650:
diagnosis of sex chromosome aneuploidy in selected samples, such as institution residents and prisoners, led to a biased perspective on the conditions that painted an unduly negative portrait of their phenotypes and prognoses. Further research on sex chromosome aneuploidy via unselected samples such as newborn screening allowed for major conditions such as XYY syndrome, Klinefelter syndrome, and trisomy X to be re-defined by more representative phenotypes; however, rarer conditions such as tetrasomy X were not ascertained in any such studies, and therefore the medical literature continues to describe cases that were diagnosed due to developmental or behavioural issues. Aspects of the early studies remain accepted; a 1969 proposal that each supernumerary X chromosome reduces IQ by an average of 15 points is still used as a rule of thumb.
53:
583:. Some cases of tetrasomy X have been described as having "a false air of trisomy 21" (the underlying chromosomal aneuploidy in Down's), and karyotyping resulting in a diagnosis of tetrasomy X has been performed due to suspicion of Down syndrome. However, this is only a differential diagnosis for a subset of cases, while others have more normal phenotypes or abnormalities inconsistent with the Down's profile. The matter is complicated by the observation that a number of women with X chromosome polysomy, including tetrasomy X, have had children with Down syndrome.
464:(eggs or sperm), and result in gametes with too many or too few chromosomes. In the specific case of sex chromosome tetrasomy and pentasomy, nondisjunction occurs multiple times with the same parent; for tetrasomy X specifically, all known cases have inherited either three maternal X chromosomes and one paternal, or four maternal X chromosomes with no paternal contribution. The cause of this specific pattern of inheritance is unclear. An early research group proposed that due to the gap in prevalence between the related conditions
77:
600:. Girls and women with tetrasomy X and good outcomes are typified by supportive family environments and strong personal advocacy for their success; "he children have been exposed to many varied activities and experiences and are praised for their strengths, while their limitations and delays are minimised". Adolescents should undergo screening for ovarian insufficiency, as hormone replacement therapy may be required to mitigate the risk of osteoporosis.
200:(presentations) ranging from slight to severe. It is suspected to be underdiagnosed, as are other sex chromosome disorders. Life outcomes vary; some women have had education, employment, and children, while others have remained dependent into adulthood. Life expectancy does not appear to be substantially reduced. Tetrasomy X has phenotypic overlap with a number of more common disorders, such as
433:
3332:
564:, a karyotype of five X chromosomes, is another major differential diagnosis. The phenotype of pentasomy X is similar but on average more severe. Intellectual disability is more severe, with an average IQ of 50, and pubertal delay or incomplete puberty appears more common. Unlike other X-chromosome polysomies, pentasomy X is associated with
554:, and some reduction in intelligence. However, the phenotype of tetrasomy X is generally more severe than that of trisomy X. In addition, while both are associated to some degree with tall stature, the association is much stronger for trisomy X. The clinical portrait is made more complex by the possibility of
591:
The long-term prognosis for tetrasomy X appears generally good. While life expectancy is unclear, patients have been diagnosed in their 50s and 60s, and long-term follow-up of individual cases shows healthy aging with good physical health. Some women live fully independent lives, while others require
495:, the most common and most studied sex chromosome aneuploidy, incidence increases substantially as maternal age rises. Less is understood about the role of maternal age in sex chromosome tetrasomy and pentasomy conditions, primarily due to their rarity, and no clear relationship has been established.
653:
Sex chromosome tetrasomy and pentasomy conditions have consistently received little attention compared to the more common trisomy conditions. Research into conditions such as tetrasomy X has been stymied by biased samples, outdated information, and a lack of publications above the case report level.
608:
Tetrasomy X is estimated to occur in approximately 1 in 50,000 females, with a prevalence of less than 1 in one million people. Considering the variable phenotype, tetrasomy X support organizations and researchers think it likely there are many cases that have not come to medical attention. This is
343:
Heart defects of various types have been associated with the syndrome, albeit at unclear prevalence. A patient organization reports approximately one-third of cases in its membership had congenital heart defects, a larger proportion than reported in the medical literature. Frequently reported heart
645:
the same year. One of the two women first diagnosed with tetrasomy X was followed up twenty-six years later in her late fifties, by which time she had left the institution and was living semi-independently with her sister; she was in good physical health, had experienced menarche and menopause at
661:
Diagnosis of sex chromosome aneuploidies is increasing, as is the number of supports available for families. The rarity of and variation in tetrasomy X limits the amount of specific support available, but major chromosome disorder organizations serve the condition and have members who are or are
649:
Much of the medical literature for tetrasomy X dates to the 1960s and 1970s, an era of particular interest in and research on sex chromosome aneuploidy. Early reports were frequently discovered during chromosome screenings in institutions for the intellectually disabled. The early preference for
279:
may be associated with tetrasomy X, although the matter is unclear; some reports describe speech and language abilities in line with overall intelligence, while others describe problems independent of intelligence, in particular with subjects who have normal intelligence but significant language
624:
Tetrasomy X was first recorded in 1961 in two intellectually disabled women residing in an institution. The late 1950s and early 1960s were a period of frequent ascertainment of previously unknown sex chromosome aneuploidies, with the discovery of the 48,XXXX karyotype being alongside that of
339:
of the teeth is enlarged and extends into the roots. These findings are not unique to tetrasomy X; epicanthic folds and hypertelorism are seen in trisomy X, while clinodactyly and radioulnar synostosis are findings common to all sex chromosome aneuploidies and taurodontism is prevalent in
609:
common to all sex chromosome aneuploidies, which have very low diagnosis rates compared to their overall population prevalence. Overall, sex chromosome tetrasomy and pentasomy disorders occur in 1 in 18,000 to 1 in 100,000 male live births, and are somewhat rarer in females.
412:, has been recorded. In trisomy X, premature menopause has occurred between the ages of 19 and 40, while in tetrasomy X, it has been recorded as young as 15. In tetrasomy X as for other causes of premature menopause or incomplete puberty, some writers have recommended
262:
ranging from 30 to 101 with a mean of 62. Although some degree of intellectual disability is traditionally characteristic, two medically reported cases were of normal intelligence, and patient organizations report members who are only afflicted by specific
558:, where both 47,XXX and 48,XXXX cell lines are present; such cases frequently, but not certainly, present closer to the tetrasomy than trisomy profile. As well as simple 47,XXX/48,XXXX mosaicism, complex 46,XX/47,XXX/48,XXXX mosaicism has been reported.
3390:
3375:
3360:
371:
and inappropriate behaviour. Family background and environment has a significant impact on behaviour, and cases with severe behavioural dysfunction frequently have similarly dysfunctional unaffected relatives. Expressive language delays and
235:
Tetrasomy X has a variable presentation with a spectrum of severity, and lacks obvious defining clinical abnormalities that can lead to a diagnosis in the absence of testing. Recognizable characteristics include increased height and mild
690:'Karyotype' as a term has multiple meanings, all of which are used here. It may refer to a person's chromosome complement, to the test used to discern said chromosome complement, or to an image of chromosomes ascertained via such a test.
416:. Fertility in tetrasomy X is possible. In the first discussion of the phenomenon, three cases have been reported of women bearing children. One woman had two children, one with a normal chromosome complement and the other with
576:. Cases of 48,XXXX/49,XXXXX mosaicism have been reported, and are often categorized as cases of pentasomy X. More complex mosaics have been reported, such as 47,XXX/48,XXXX/49,XXXXX and 45,X0/46,XX/47,XXX/48,XXXX/49,XXXXX.
385:. Parent reports describe children and young adults who are generally pleasant and affectionate yet shy, and have issues relating to temper tantrums, mood swings, and frustration at an inability to communicate.
592:
more persistent support from parents and caregivers, consistent with other intellectual disability syndromes of comparable severity. Many are able to work part-time, and some full-time; some young women attend
376:
are common heralds of behavioural issues, due to the difficulties they cause for educational, vocational, and social functioning. In both men and women X-chromosome polysomy is known to be associated with
3541:
356:. Epilepsy in sex chromosome aneuploidies generally is mild, amenable to treatment, and often attenuates or disappears with time. There is also a potential association between tetrasomy X and
476:, with the suggestion that a similarly high number of paternal X-chromosomes would be incompatible with life. Nondisjunction can also occur after conception, which frequently results in a
367:
The psychological and behavioural phenotype of tetrasomy X is understudied. Some reports describe girls and women with tetrasomy X as generally placid and pleasant, while others report
307:
are relatively mild and do not necessarily "stand out from the crowd"; in general, X chromosome polysomy is not associated with severe physical dysmorphism, although tetrasomy and
2258:
Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, SĂžrensen K, JĂžrgensen N, Rajpert-De Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A (May 2010).
3305:
193:(fusion of the long bones in the forearm). Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females.
3499:
951:
Samango-Sprouse C, Keen C, Mitchell F, Sadeghin T, Gropman A (18 June 2015). "Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48,XXXX".
1248:Ălvarez-VĂĄzquez P, Rivera A, Figueroa I, PĂĄramo C, GarcĂa-Mayor RV (10 July 2006). "Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy".
227:
observed in tetrasomy X is 48,XXXX, as the condition is typified by a 48-chromosome complement rather than the 46 chromosomes observed in normal human development.
2172:
1667:
Rooman RPA, Van
Driessche K, Du Caju MVL (2002). "Growth and ovarian function in girls with 48,XXXX karyotype â patient report and review of the literature".
538:, in which a female has three copies of the X chromosome. The two conditions have overlapping phenotypes with a broad range of severity. Both are associated with
2042:
Dey SK, Ghosh S (29 August 2011). "Etiology of Down
Syndrome: Risk of Advanced Maternal Age and Altered Meiotic Recombination for Chromosome 21 Nondisjunction".
2580:
Living with
Klinefelter Syndrome (47,XXY) Trisomy X (47, XXX) and 47, XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosome Variations
1035:
2708:
534:
Tetrasomy X has many possibilities for differential diagnosis, with multiple other conditions overlapping with the phenotype. One differential diagnosis is
4068:
3127:
Ricci N, Dallapiccola B, Ventimiglia B, Tiepolo L, Fraccaro M (1968). "48, XXXX/49, XXXXX mosaic: asynchronies among the late-replicating X chromosomes".
654:
Dedicated patient and family support groups, such as Unique and the
Tetrasomy and Pentasomy X Support Group, began to appear online in the early 2000s. A
876:
3264:
1931:
Arbelaez HEM, Aldana CTS, Bravo NCC, Ospina SY, Mendoza DJF (May 2010). "AnĂĄlisis clĂnico y molecular de una pacientecon pentasomia del cromosoma X".
3269:
4317:
3492:
2885:
Ford CE, Jones KW, Polani PE, de
Almeida JCC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)".
1229:
Xiong WY, Jiang ZY, Zou CC (January 2014). "Tetrasomy X in a child with multiple abnormalities: case report and literature review from China".
472:, which is far rarer, the paternal X chromosomes may frequently be lost in high-level aneuploidy. More recently, speculation has been based in
2975:
Jacobs PA, Baikie AG, Court Brown WM, MacGregor TN, Harnden DG (26 September 1959). "Evidence for the existence of the human 'super female'".
2731:
Turan MT, EĆel E, DĂŒndar M, Candemir Z, BaĆtĂŒrk M, SofuoÄlu S, Ăzkul Y (1 December 2000). "Female-to-male transsexual with 47,XXX karyotype".
658:
in the United
Kingdom was established in 2004, amidst concerns that little serious research had been conducted on tetrasomy X for many years.
2587:
2051:
4312:
1553:
Slae M, Heshin-Bekenstein M, Simckes A, Heimer G, Engelhard D, Eisenstein EM (2014). "Female polysomy-X and systemic lupus erythematosus".
1294:
Schoubben E, Decaestecker K, Quaegebeur K, Danneels L, Mortier G, Cornette L (18 May 2011). "Tetrasomy and pentasomy of the X chromosome".
708:
Male phenotypes, innate or induced, with forms of X chromosome polysomy that are usually phenotypically female do occur. For trisomy X, a
4181:
498:
Tetrasomy X is generally a random occurrence and does not recur in the same family. In rare cases, it may be related to a mother having
1525:
303:(wide-spaced eyes) are frequent facial features. Multiple reports have described the characteristic facial features as "coarse". These
3485:
2638:
1710:
Kara C, Ăstyol A, Yılmaz A, AltundaÄ E, OÄur G (December 2014). "Premature ovarian failure due to tetrasomy X in an adolescent girl".
1424:
Tartaglia N, Howell S, Wilson R, Janusz J, Boada R, Martin S, Frazier JB, Pfeiffer M, Regan K, McSwegin S, Zeitler P (17 July 2015).
847:
4171:
3297:
2809:
MĂŒller U, Latt SA, Donlon T, Opitz JM (October 1987). "Y-specific DNA sequences in male patients with 46,XX and 47,XXX karyotypes".
2260:"Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy"
364:, which has been recorded in two women with tetrasomy X and appears to become more common as the number of X chromosomes increase.
1478:
Wood A, Kleis L, Toriello H, Cemeroglu AP (17 May 2011). "Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure".
331:, the fusion of the long bones in the forearm, are frequent. Dental abnormalities are associated with the syndrome, in particular
3754:
2787:
1794:
Hassold T, Pettay D, May K, Robinson A (October 1990). "Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy".
4153:
4096:
3686:
1426:"The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy"
573:
4147:
4086:
4024:
2342:
Olanders S, WĂ„linder J (1970). "Cutis verticis gyrata in a woman with supernumerary X chromosomes (46,XX/47,XXX/48,XXXX)".
3641:
2922:
Jacobs PA, Strong JA (31 January 1959). "A case of human intersexuality having a possible XXY sex-determining mechanism".
3670:
4090:
4082:
4038:
3730:
3605:
3583:
2160:
401:
1505:
Bilge S, Mert GG, Ăzcan N, ĂzcanyĂŒz D (September 2020). "Tetrasomy X, a rare cause of epilepsy and behavior disorder".
4281:
4269:
3649:
3536:
413:
52:
3726:
3722:
420:. Two women had one child each; one had a daughter with normal chromosomes, while the other had a stillbirth with an
2774:
Ogata T, Matsuo M, Muroya K, Koyama Y, Fukutani K (1 February 2001). "47,XXX male: A clinical and molecular study".
4028:
3012:
Muldal S, Ockey CH (27 August 1960). "The 'double male': a new chromosome constitution in
Klinefelter's syndrome".
1024:
3791:
4195:
4157:
3956:
551:
405:
349:
2108:
Pirollo LMA, Salehi LB, Sarta S, Cassone M, Capogna MV, Piccione E, Novelli G, Pietropolli P (29 January 2015).
3645:
3405:
671:
345:
2604:
2540:
Berg JM, Karlinsky H, Korossy M, Pakula Z (1988). "Twenty-six years later: a woman with tetra-X chromosomes".
872:
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4189:
4175:
4133:
4054:
3766:
382:
237:
174:
3336:
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3508:
523:
392:
development. Of the adult women recorded with tetrasomy X, half have had normal pubertal development with
137:
2461:
Plaiasu V, Ochiana D, Motei G, Anca IA (October 2012). "A new case of tetrasomy X in a 8 year old girl".
568:. Similarly, pentasomy X is commonly associated with findings that are infrequent in tetrasomy X such as
4285:
3215:"Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review"
484:
449:
373:
328:
259:
254: in) compared with a reference height of around 162 cm (5 ft 4 in) for women in the
190:
4265:
4261:
3456:
3369:
4012:
3937:
3876:
3682:
3171:
2933:
2307:
Rerrick EG (1970). "Mosaic XXX/XXXX sex chromosome complement case report and review of literature".
1116:
630:
597:
492:
319:(low muscle tone), often severe and early-onset, is a commonly observed musculoskeletal abnormality.
166:
1105:"Aneuploidy: a common and early evidence-based biomarker for carcinogens and reproductive toxicants"
76:
4185:
3998:
3632:
3394:
357:
264:
4289:
4277:
4273:
4237:
4232:
4167:
3781:
3561:
3195:
2957:
2756:
2402:
2367:
1913:
1888:
Archidiacono N, Rocchi M, Valente M, Filipi G (November 1979). "X pentasomy: a case and review".
1819:
1735:
1692:
1319:
1273:
976:
593:
473:
397:
368:
304:
85:
2420:
Nakano S, Sasame A, Azukizawa S, Kigoshi T, Uchida K, Takahashi H, Morimoto S (September 1992).
2629:
Wilson R, Bennett E, Howell SE, Tartaglia N (20 December 2012). "Sex
Chromosome Aneuploidies".
396:
at an appropriate age, while the other half have had some form of pubertal dysfunction such as
4251:
3868:
3787:
3742:
3710:
3698:
3445:
3246:
3187:
3144:
3109:
3060:
2994:
2949:
2904:
2867:
2826:
2791:
2748:
2703:
2685:
2634:
2583:
2557:
2519:
2443:
2359:
2324:
2289:
2240:
2141:
2090:
2047:
2024:
1973:
1905:
1870:
1811:
1776:
1727:
1684:
1646:
1611:
1570:
1487:
1457:
1403:
1311:
1265:
1208:
1144:
1085:
968:
928:
813:
555:
477:
125:
65:
4246:
4242:
4139:
4016:
3984:
3615:
3236:
3226:
3179:
3136:
3099:
3091:
3052:
3023:
2986:
2941:
2924:
2896:
2857:
2818:
2783:
2740:
2675:
2667:
2549:
2509:
2501:
2470:
2433:
2394:
2351:
2316:
2279:
2271:
2230:
2131:
2121:
2080:
2014:
2004:
1963:
1897:
1860:
1850:
1803:
1766:
1719:
1676:
1638:
1601:
1562:
1447:
1437:
1393:
1383:
1350:
1303:
1257:
1198:
1188:
1134:
1124:
1075:
1065:
960:
918:
805:
655:
547:
453:
296:
70:
796:
Linden MG, Bender BG, Robinson A (October 1995). "Sex chromosome tetrasomy and pentasomy".
4256:
3845:
3213:
Ricciardi G, Cammisa L, Bove R, Picchiotti G, Spaziani M, Isidori AM, et al. (2022).
1588:
DeLisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ (1994).
832:
626:
424:. An additional woman was reported as having three children, all with normal chromosomes.
3175:
2937:
1120:
3930:
3896:
3891:
3566:
3399:
3241:
3214:
3104:
3079:
2862:
2845:
2680:
2655:
2553:
2514:
2489:
2398:
2355:
2320:
2284:
2259:
2235:
2218:
2136:
2109:
2019:
1992:
1865:
1838:
1452:
1425:
1398:
1371:
1203:
1176:
1139:
1104:
1080:
1053:
923:
906:
519:
445:
288:
276:
212:
118:
3056:
3041:
Sandberg AA, Koepf GF, Ishihara T, Hauschka TS (26 August 1961). "An XYY human male".
3027:
2990:
2900:
2744:
2385:
Cirillo
Silengo A, Davi GF, Franceschini P (September 1979). "The 49,XXXXX syndrome".
2069:"Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study"
311:
tend to be somewhat more noticeable in this respect than the milder and more frequent
4306:
4125:
3925:
3886:
3881:
3809:
3795:
3771:
3759:
3747:
3735:
3715:
3620:
3598:
3593:
3571:
2671:
2438:
2421:
2406:
1642:
1566:
738:
580:
565:
543:
488:
417:
300:
205:
178:
150:
2961:
2760:
2656:"48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome"
2371:
1952:"Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis"
1917:
1823:
1696:
1323:
980:
211:
Tetrasomy X is generally not inherited, but rather occurs via a random event called
3920:
3827:
3823:
3703:
3691:
3675:
3663:
3653:
3556:
3199:
1739:
1277:
713:
613:
569:
352:. Kidney and bladder issues have been loosely associated with the syndrome, as has
336:
332:
324:
320:
272:
186:
182:
170:
2187:
2009:
3410:
833:"Anthropometric reference data for children and adults: United States, 2011â2014"
3942:
3913:
3805:
1771:
1754:
1680:
561:
469:
421:
308:
255:
146:
4062:
4058:
3864:
3610:
3588:
3578:
3384:
3043:
3014:
2977:
2887:
1723:
1606:
1589:
1355:
1338:
1307:
1261:
1129:
511:
441:
284:
258:, while a review of the first 27 women to be diagnosed with tetrasomy X found
91:
3162:
Polani PE (16 August 1969). "Abnormal sex chromosomes and mental disorders".
17:
3903:
3859:
3551:
3546:
3416:
3231:
2822:
1968:
1951:
709:
634:
539:
535:
515:
499:
409:
378:
316:
312:
224:
201:
197:
142:
130:
3477:
3250:
3064:
2998:
2953:
2908:
2871:
2795:
2752:
2689:
2631:
Psychopathology of
Childhood and Adolescence: A Neuropsychological Approach
2293:
2145:
2094:
2085:
2068:
2028:
1977:
1780:
1731:
1688:
1574:
1491:
1461:
1407:
1388:
1315:
1269:
1212:
1148:
972:
432:
3331:
3191:
3148:
3113:
2830:
2561:
2523:
2447:
2363:
2328:
2244:
2126:
2110:"A new case of prenatally diagnosed pentasomy X: review of the literature"
1874:
1815:
1650:
1615:
1193:
1089:
817:
809:
4019:
3969:
3965:
3837:
3516:
3451:
2474:
2275:
1909:
1855:
964:
932:
465:
393:
353:
292:
268:
3352:
2788:
10.1002/1096-8628(20010201)98:4<353::AID-AJMG1110>3.0.CO;2-D
2505:
1837:
Robinson WP, Binkert F, Schnizel AA, Basaran S, Mikelsaar R (May 1994).
1629:
O'Connor MJ, Sherman J (July 1988). "Schizophrenia in a 48,XXXX child".
1442:
1175:
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L (11 May 2010).
1070:
699:
Aneuploidy is the presence of too many or too few chromosomes in a cell.
4072:
3855:
3528:
3095:
1901:
1807:
1755:"Mechanisms of oocyte aneuploidy associated with advanced maternal age"
638:
518:, the process in which chromosomes are tested from blood, bone marrow,
457:
389:
3140:
3379:
3364:
3183:
2945:
2654:
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P (June 2011).
642:
526:
potential, diagnosis cannot be made on the basis of phenotype alone.
461:
220:
216:
3465:
1631:
Journal of the American Academy of Child & Adolescent Psychiatry
1526:"Seizures and tremor in people with X & Y chromosome variations"
1103:
Mandrioli D, Belpoggi F, Silbergeld EK, Perry MJ (12 October 2016).
646:
typical ages (14 and 50), and showed no signs of cognitive decline.
240:; the average adult height in tetrasomy X is 169 cm (5 ft
283:
A number of facial and musculoskeletal anomalies are common to all
4161:
4100:
4076:
4006:
2846:"An XXXX sex chromosome complex in two mentally defective females"
831:
US Dept. of Health and Human Services, et al. (August 2016).
502:, mosaic or otherwise. It is not caused by environmental factors.
431:
361:
3421:
2578:
Isaacs Cover V (2012). "Trisomy X, Tetrasomy X and Pentasomy X".
208:, and diagnosis is usually unclear prior to chromosomal testing.
4207:
4199:
4143:
4129:
4104:
4032:
4002:
3992:
3440:
2422:"Pentasomy X mosaic in two adult sisters with diabetes mellitus"
491:, the relationship with maternal age is extensively studied. In
3481:
3988:
177:
of varying severity, characteristic "coarse" facial features,
1372:"Klinefelter syndrome and other sex chromosomal aneuploidies"
400:, irregular menstrual cycles, or incomplete development of
169:
in which a female has four, rather than two, copies of the
2217:
Telfer MA, Richardson CE, Helmken J, Smith GF (May 1970).
905:
Nielsen J, Homma A, Christiansen F, Rasmussen K (1977).
616:
is in most cases necessary for male sexual development.
2219:"Divergent phenotypes among 48,XXXX and 47,XXX females"
299:(additional skin folds in the corners of the eyes) and
579:
An additional differential diagnosis in some cases is
2488:
Singer J, Sachdeva S, Smith GF, Hsia JY (June 1972).
468:, which has a similar prevalence to tetrasomy X, and
381:, and a case is known of a girl with tetrasomy X and
3342:
1993:"Meiotic origins of maternal age-related aneuploidy"
1753:
Mikwar M, MacFarlane AJ, Marchetti F (4 July 2020).
875:. Australian Bureau of Statistics. 29 October 2012.
4225:
4118:
4047:
3977:
3964:
3955:
3854:
3836:
3822:
3631:
3524:
3515:
3431:
3346:
2633:. New York: Springer Publishing. pp. 596â597.
2186:Edens Hurst AC, Zieve D, Conaway B (2 April 2021).
1991:Chiang T, Schultz RM, Lampson MA (1 January 2012).
1669:
Journal of Pediatric Endocrinology & Metabolism
1533:
AXYS: Association for X and Y Chromosome Variations
1054:"A case of 48,XXXX female with normal intelligence"
181:, and skeletal anomalies such as increased height,
136:
124:
114:
106:
98:
84:
64:
42:
37:
2073:Journal of Clinical Endocrinology & Metabolism
2067:Bojesen A, Juul S, Gravholt GH (1 February 2003).
2844:Carr DH, Barr ML, Plunkett ER (21 January 1961).
2490:"Triple X female and a Down's syndrome offspring"
94:, heart defects, skeletal anomalies, tall stature
2582:. Altona, Manitoba: Friesens. pp. 114â116.
196:The disorder has a wide range of symptoms, with
1759:Mutation Research/Reviews in Mutation Research
4247:46,XX testicular disorders of sex development
3493:
2573:
2571:
791:
789:
787:
785:
783:
781:
779:
8:
2709:Genetic and Rare Diseases Information Center
1839:"Multiple origins of X chromosome tetrasomy"
1590:"Schizophrenia and sex chromosome anomalies"
777:
775:
773:
771:
769:
767:
765:
763:
761:
759:
4069:Acute myeloblastic leukemia with maturation
2264:American Journal of Medical Genetics Part A
1419:
1417:
953:American Journal of Medical Genetics Part A
900:
898:
896:
894:
612:Tetrasomy X only occurs in females, as the
3974:
3961:
3833:
3521:
3500:
3486:
3478:
3343:
1370:Visootsak J, Graham JM (24 October 2006).
1224:
1222:
1170:
1168:
1166:
1164:
1162:
1160:
1158:
75:
51:
34:
3240:
3230:
3103:
2861:
2679:
2603:Ayara N, Berge A, Howell S, Tartaglia N.
2513:
2437:
2283:
2234:
2161:"Chromosomal abnormalities: aneuploidies"
2135:
2125:
2114:Case Reports in Obstetrics and Gynecology
2084:
2018:
2008:
1967:
1864:
1854:
1770:
1605:
1451:
1441:
1397:
1387:
1354:
1202:
1192:
1138:
1128:
1079:
1069:
1018:
1016:
1014:
1012:
1010:
922:
873:"Australian health survey: first results"
522:, or placental cells. Due to significant
444:disorders, is caused by a process called
27:Chromosomal disorder with 4 X chromosomes
3270:National Organization for Rare Disorders
1950:Kuliev A, Verlinsky Y (1 October 2004).
1008:
1006:
1004:
1002:
1000:
998:
996:
994:
992:
990:
743:National Human Genome Research Institute
2535:
2533:
2212:
2210:
2208:
1662:
1660:
1430:Journal of Multidisciplinary Healthcare
729:
683:
2046:. London: IntechOpen. pp. 23â31.
2044:Genetics and Etiology of Down Syndrome
1524:AXYS, Berry Kravis E (December 2020).
1289:
1287:
946:
944:
942:
514:such as tetrasomy X are diagnosed via
3265:"Tetrasomy/Pentasomy X Support Group"
3080:"A female with the 48,XXXX karyotype"
2542:Journal of Mental Deficiency Research
2309:Journal of Mental Deficiency Research
2175:from the original on 3 November 2020.
1473:
1471:
223:development. The formal term for the
7:
2850:Canadian Medical Association Journal
2811:American Journal of Medical Genetics
2776:American Journal of Medical Genetics
1555:Seminars in Arthritis and Rheumatism
879:from the original on 20 January 2017
853:from the original on 2 February 2017
340:X-chromosome polysomy specifically.
4182:Desmoplastic small-round-cell tumor
3078:Berkeley MI, Faed MJ (March 1970).
1052:Blackston RD, Chen AT (June 1972).
1041:from the original on 18 March 2021.
3308:from the original on 6 August 2020
2554:10.1111/j.1365-2788.1988.tb01389.x
2399:10.1111/j.1651-2227.1979.tb18456.x
2356:10.1111/j.1600-0447.1970.tb02107.x
2321:10.1111/j.1365-2788.1970.tb01108.x
2223:American Journal of Human Genetics
1343:Balkan Journal of Medical Genetics
1337:Kaur A, Pandi M, Singh JR (2009).
924:10.1111/j.1601-5223.1977.tb00962.x
840:National Health Statistics Reports
25:
1376:Orphanet Journal of Rare Diseases
1181:Orphanet Journal of Rare Diseases
487:. In common aneuploidies such as
456:fail to separate properly during
3755:22q11.2 distal deletion syndrome
3330:
2672:10.1111/j.1651-2227.2011.02235.x
2439:10.2169/internalmedicine.31.1102
1643:10.1097/00004583-198807000-00016
1567:10.1016/j.semarthrit.2013.07.014
1231:Hong Kong Journal of Paediatrics
1177:"A review of trisomy X (47,XXX)"
542:, mild facial anomalies such as
90:Intellectual disability, facial
4154:Dermatofibrosarcoma protuberans
4097:Acute megakaryoblastic leukemia
4025:Anaplastic large-cell lymphoma
3687:Chromosome 5q deletion syndrome
574:intrauterine growth restriction
388:Tetrasomy X can interfere with
4318:Genetic diseases and disorders
2344:Acta Psychiatrica Scandinavica
1712:European Journal of Pediatrics
1296:European Journal of Pediatrics
907:"Women with tetra-X (48,XXXX)"
739:"Genetics Glossary: Karyotype"
662:associates of people with it.
1:
3877:Klinefelter syndrome (47,XXY)
3642:1q21.1 copy number variations
3057:10.1016/S0140-6736(61)92459-X
3028:10.1016/S0140-6736(60)91624-X
2991:10.1016/S0140-6736(59)90415-5
2901:10.1016/S0140-6736(59)91893-8
2745:10.1016/S0006-3223(00)00954-9
2010:10.1095/biolreprod.111.094367
483:Nondisjunction is related to
448:. Nondisjunction occurs when
436:Nondisjunction in tetrasomy X
402:secondary sex characteristics
383:childhood-onset schizophrenia
323:, the bending inwards of the
4083:Acute promyelocytic leukemia
4039:Acute lymphoblastic leukemia
3731:17q12 microdeletion syndrome
3606:22q11.2 duplication syndrome
3584:16p11.2 duplication syndrome
1339:"48,XXXX, a rare aneuploidy"
460:, the process that produces
4313:Sex chromosome aneuploidies
3650:1q21.1 duplication syndrome
3537:1q21.1 duplication syndrome
3084:Journal of Medical Genetics
2494:Journal of Medical Genetics
1843:Journal of Medical Genetics
1772:10.1016/j.mrrev.2020.108320
1681:10.1515/JPEM.2002.15.7.1051
1058:Journal of Medical Genetics
1023:Rooman R, Hultén M (2005).
414:hormone replacement therapy
4339:
350:ventricular septal defects
4196:Alveolar rhabdomyosarcoma
3931:XYYYY syndrome (49,XYYYY)
3897:XXXXY syndrome (49,XXXXY)
3892:XXXYY syndrome (49,XXXYY)
1956:Human Reproduction Update
1933:Acta BiolĂłgica Colombiana
1724:10.1007/s00431-013-2209-y
1507:Acta Scientific Neurology
1356:10.2478/v10034-009-0006-8
1308:10.1007/s00431-011-1491-9
1262:10.1007/s11102-006-9330-0
1130:10.1186/s12940-016-0180-6
552:premature ovarian failure
406:Premature ovarian failure
291:, including X chromosome
59:
50:
3671:WolfâHirschhorn syndrome
3646:1q21.1 deletion syndrome
3509:Chromosome abnormalities
2605:"Orphanet: TetrasomĂa X"
672:Sex chromosome anomalies
440:Tetrasomy X, like other
346:patent ductus arteriosus
173:. It is associated with
60:Karyotype of tetrasomy X
4055:Philadelphia chromosome
3926:XYYY syndrome (48,XYYY)
3887:XXXY syndrome (48,XXXY)
3882:XXYY syndrome (48,XXYY)
3767:22q13 deletion syndrome
3542:2q31.1 microduplication
3232:10.3390/children9111719
2823:10.1002/ajmg.1320280218
1997:Biology of Reproduction
1607:10.1093/schbul/20.3.495
238:intellectual disability
175:intellectual disability
3914:Pentasomy X (49,XXXXX)
3846:Turner syndrome (45,X)
3727:SmithâMagenis syndrome
3723:MillerâDieker syndrome
3658:1p36 deletion syndrome
2086:10.1210/jc.2002-021491
1594:Schizophrenia Bulletin
1389:10.1186/1750-1172-1-42
530:Differential diagnosis
524:differential diagnosis
450:homologous chromosomes
437:
138:Differential diagnosis
3921:XYY syndrome (47,XYY)
3909:Tetrasomy X (48,XXXX)
3792:PraderâWilli syndrome
2733:Biological Psychiatry
1969:10.1093/humupd/dmh036
1194:10.1186/1750-1172-5-8
810:10.1542/peds.96.4.672
712:and several men with
485:advanced maternal age
435:
374:executive dysfunction
329:radioulnar synostosis
295:such as tetrasomy X.
265:learning disabilities
191:radioulnar synostosis
4013:Mantle cell lymphoma
3683:Cri du chat syndrome
3339:at Wikimedia Commons
3298:"Extraordinary care"
3296:Auchmutey P (2018).
2475:10.4183/aeb.2012.627
2463:Acta Endocrinologica
2276:10.1002/ajmg.a.33334
1856:10.1136/jmg.31.5.424
1109:Environmental Health
965:10.1002/ajmg.a.37198
550:, increased height,
493:Klinefelter syndrome
358:autoimmune disorders
167:chromosomal disorder
3999:Follicular lymphoma
3302:Emory Health Digest
3176:1969Natur.223..680P
2938:1959Natur.183..302J
2506:10.1136/jmg.9.2.238
2159:O'Connor C (2008).
2127:10.1155/2015/935202
1443:10.2147/JMDH.S80242
1121:2016EnvHe..15...97M
1071:10.1136/jmg.9.2.230
716:have been recorded.
305:dysmorphic features
4238:Uniparental disomy
4233:Fragile X syndrome
4168:Myxoid liposarcoma
4020:t(11 CCND1:14 IGH)
3904:Trisomy X (47,XXX)
3782:genomic imprinting
3562:Distal trisomy 10q
3432:External resources
3096:10.1136/jmg.7.1.83
2712:. 19 February 2014
1902:10.1007/bf00284599
1808:10.1007/bf00193591
594:tertiary education
474:genomic imprinting
438:
398:primary amenorrhea
369:emotional lability
4300:
4299:
4252:Marker chromosome
4221:
4220:
4114:
4113:
3951:
3950:
3818:
3817:
3788:Angelman syndrome
3743:DiGeorge syndrome
3711:Jacobsen syndrome
3699:Williams syndrome
3475:
3474:
3335:Media related to
3170:(5207): 680â686.
3141:10.1159/000129989
3051:(7200): 488â489.
3022:(7147): 492â493.
2985:(7100): 423â425.
2932:(4657): 302â303.
2895:(7075): 711â713.
2589:978-0-615-57400-4
2426:Internal Medicine
2053:978-953-307-631-7
1718:(12): 1627â1630.
1480:Indian Pediatrics
1302:(10): 1325â1327.
959:(10): 2251â2259.
454:sister chromatids
156:
155:
126:Diagnostic method
32:Medical condition
16:(Redirected from
4330:
4243:XX male syndrome
4140:Synovial sarcoma
4017:Multiple myeloma
3985:Burkitt lymphoma
3975:
3962:
3865:other karyotypes
3834:
3616:Cat-eye syndrome
3522:
3502:
3495:
3488:
3479:
3344:
3334:
3318:
3317:
3315:
3313:
3293:
3287:
3286:
3284:
3282:
3277:on 24 April 2016
3273:. Archived from
3261:
3255:
3254:
3244:
3234:
3210:
3204:
3203:
3184:10.1038/223680a0
3159:
3153:
3152:
3124:
3118:
3117:
3107:
3075:
3069:
3068:
3038:
3032:
3031:
3009:
3003:
3002:
2972:
2966:
2965:
2946:10.1038/183302a0
2919:
2913:
2912:
2882:
2876:
2875:
2865:
2841:
2835:
2834:
2806:
2800:
2799:
2771:
2765:
2764:
2739:(1): 1116â1117.
2728:
2722:
2721:
2719:
2717:
2700:
2694:
2693:
2683:
2660:Acta Paediatrica
2651:
2645:
2644:
2626:
2620:
2619:
2617:
2615:
2600:
2594:
2593:
2575:
2566:
2565:
2537:
2528:
2527:
2517:
2485:
2479:
2478:
2458:
2452:
2451:
2441:
2432:(9): 1102â1106.
2417:
2411:
2410:
2387:Acta Paediatrica
2382:
2376:
2375:
2339:
2333:
2332:
2304:
2298:
2297:
2287:
2270:(5): 1206â1212.
2255:
2249:
2248:
2238:
2214:
2203:
2202:
2200:
2198:
2183:
2177:
2176:
2165:Nature Education
2156:
2150:
2149:
2139:
2129:
2105:
2099:
2098:
2088:
2064:
2058:
2057:
2039:
2033:
2032:
2022:
2012:
1988:
1982:
1981:
1971:
1947:
1941:
1940:
1928:
1922:
1921:
1885:
1879:
1878:
1868:
1858:
1834:
1828:
1827:
1791:
1785:
1784:
1774:
1750:
1744:
1743:
1707:
1701:
1700:
1675:(7): 1051â1055.
1664:
1655:
1654:
1626:
1620:
1619:
1609:
1585:
1579:
1578:
1550:
1544:
1543:
1541:
1539:
1530:
1521:
1515:
1514:
1502:
1496:
1495:
1475:
1466:
1465:
1455:
1445:
1421:
1412:
1411:
1401:
1391:
1367:
1361:
1360:
1358:
1334:
1328:
1327:
1291:
1282:
1281:
1245:
1239:
1238:
1226:
1217:
1216:
1206:
1196:
1172:
1153:
1152:
1142:
1132:
1100:
1094:
1093:
1083:
1073:
1049:
1043:
1042:
1040:
1029:
1020:
985:
984:
948:
937:
936:
926:
902:
889:
888:
886:
884:
869:
863:
862:
860:
858:
852:
837:
828:
822:
821:
793:
754:
753:
751:
749:
734:
717:
706:
700:
697:
691:
688:
656:patient registry
548:epicanthic folds
344:defects include
297:Epicanthic folds
253:
252:
248:
245:
161:, also known as
80:
79:
71:Medical genetics
55:
35:
21:
4338:
4337:
4333:
4332:
4331:
4329:
4328:
4327:
4303:
4302:
4301:
4296:
4257:Ring chromosome
4217:
4110:
4043:
3947:
3863:
3850:
3814:
3627:
3526:
3511:
3506:
3476:
3471:
3470:
3427:
3426:
3355:
3327:
3322:
3321:
3311:
3309:
3295:
3294:
3290:
3280:
3278:
3263:
3262:
3258:
3225:(11): 680â686.
3212:
3211:
3207:
3161:
3160:
3156:
3126:
3125:
3121:
3077:
3076:
3072:
3040:
3039:
3035:
3011:
3010:
3006:
2974:
2973:
2969:
2921:
2920:
2916:
2884:
2883:
2879:
2843:
2842:
2838:
2808:
2807:
2803:
2773:
2772:
2768:
2730:
2729:
2725:
2715:
2713:
2702:
2701:
2697:
2653:
2652:
2648:
2641:
2628:
2627:
2623:
2613:
2611:
2602:
2601:
2597:
2590:
2577:
2576:
2569:
2539:
2538:
2531:
2487:
2486:
2482:
2460:
2459:
2455:
2419:
2418:
2414:
2384:
2383:
2379:
2341:
2340:
2336:
2306:
2305:
2301:
2257:
2256:
2252:
2216:
2215:
2206:
2196:
2194:
2185:
2184:
2180:
2158:
2157:
2153:
2107:
2106:
2102:
2066:
2065:
2061:
2054:
2041:
2040:
2036:
1990:
1989:
1985:
1949:
1948:
1944:
1930:
1929:
1925:
1887:
1886:
1882:
1836:
1835:
1831:
1793:
1792:
1788:
1752:
1751:
1747:
1709:
1708:
1704:
1666:
1665:
1658:
1628:
1627:
1623:
1587:
1586:
1582:
1552:
1551:
1547:
1537:
1535:
1528:
1523:
1522:
1518:
1504:
1503:
1499:
1477:
1476:
1469:
1423:
1422:
1415:
1369:
1368:
1364:
1336:
1335:
1331:
1293:
1292:
1285:
1247:
1246:
1242:
1228:
1227:
1220:
1174:
1173:
1156:
1102:
1101:
1097:
1051:
1050:
1046:
1038:
1027:
1022:
1021:
988:
950:
949:
940:
904:
903:
892:
882:
880:
871:
870:
866:
856:
854:
850:
835:
830:
829:
825:
795:
794:
757:
747:
745:
736:
735:
731:
726:
721:
720:
707:
703:
698:
694:
689:
685:
680:
668:
622:
606:
589:
532:
508:
430:
360:, particularly
289:sex chromosomes
277:language delays
250:
246:
243:
241:
233:
74:
33:
28:
23:
22:
15:
12:
11:
5:
4336:
4334:
4326:
4325:
4323:Rare syndromes
4320:
4315:
4305:
4304:
4298:
4297:
4295:
4294:
4293:
4292:
4254:
4249:
4240:
4235:
4229:
4227:
4223:
4222:
4219:
4218:
4216:
4215:
4193:
4179:
4165:
4151:
4137:
4122:
4120:
4116:
4115:
4112:
4111:
4109:
4108:
4094:
4080:
4066:
4051:
4049:
4045:
4044:
4042:
4041:
4036:
4022:
4010:
3996:
3981:
3979:
3972:
3959:
3957:Translocations
3953:
3952:
3949:
3948:
3946:
3945:
3940:
3934:
3933:
3928:
3923:
3917:
3916:
3911:
3906:
3900:
3899:
3894:
3889:
3884:
3879:
3873:
3871:
3852:
3851:
3849:
3848:
3842:
3840:
3831:
3820:
3819:
3816:
3815:
3813:
3812:
3802:
3801:
3800:
3799:
3777:
3776:
3775:
3774:
3764:
3763:
3762:
3752:
3751:
3750:
3740:
3739:
3738:
3720:
3719:
3718:
3708:
3707:
3706:
3696:
3695:
3694:
3680:
3679:
3678:
3668:
3667:
3666:
3637:
3635:
3629:
3628:
3626:
3625:
3624:
3623:
3613:
3608:
3603:
3602:
3601:
3591:
3586:
3581:
3576:
3575:
3574:
3567:Patau syndrome
3564:
3559:
3554:
3549:
3544:
3539:
3533:
3531:
3519:
3513:
3512:
3507:
3505:
3504:
3497:
3490:
3482:
3473:
3472:
3469:
3468:
3459:
3448:
3436:
3435:
3433:
3429:
3428:
3425:
3424:
3413:
3402:
3387:
3372:
3356:
3351:
3350:
3348:
3347:Classification
3341:
3340:
3326:
3325:External links
3323:
3320:
3319:
3288:
3256:
3205:
3154:
3135:(4): 249â259.
3119:
3070:
3033:
3004:
2967:
2914:
2877:
2856:(3): 131â137.
2836:
2817:(2): 393â401.
2801:
2782:(4): 353â356.
2766:
2723:
2695:
2666:(6): 851â860.
2646:
2640:978-0826109200
2639:
2621:
2595:
2588:
2567:
2529:
2500:(2): 238â239.
2480:
2469:(4): 627â632.
2453:
2412:
2393:(5): 769â771.
2377:
2350:(2): 120â125.
2334:
2315:(2): 141â148.
2299:
2250:
2229:(3): 326â335.
2204:
2178:
2151:
2100:
2079:(2): 622â626.
2059:
2052:
2034:
1983:
1962:(5): 401â407.
1942:
1935:(in Spanish).
1923:
1890:Human Genetics
1880:
1849:(5): 424â425.
1829:
1802:(6): 648â850.
1796:Human Genetics
1786:
1745:
1702:
1656:
1637:(4): 474â478.
1621:
1600:(3): 495â505.
1580:
1561:(4): 508â512.
1545:
1516:
1497:
1486:(5): 402â404.
1467:
1436:(1): 323â334.
1413:
1362:
1329:
1283:
1256:(2): 145â149.
1240:
1218:
1154:
1095:
1064:(2): 230â232.
1044:
986:
938:
917:(2): 151â156.
890:
864:
823:
804:(4): 672â682.
755:
737:Biesecker BB.
728:
727:
725:
722:
719:
718:
701:
692:
682:
681:
679:
676:
675:
674:
667:
664:
621:
618:
605:
602:
588:
585:
531:
528:
520:amniotic fluid
507:
504:
446:nondisjunction
429:
426:
232:
229:
213:nondisjunction
154:
153:
140:
134:
133:
128:
122:
121:
119:Nondisjunction
116:
112:
111:
108:
104:
103:
100:
96:
95:
88:
82:
81:
68:
62:
61:
57:
56:
48:
47:
44:
40:
39:
31:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
4335:
4324:
4321:
4319:
4316:
4314:
4311:
4310:
4308:
4291:
4287:
4283:
4279:
4275:
4271:
4267:
4263:
4260:
4259:
4258:
4255:
4253:
4250:
4248:
4244:
4241:
4239:
4236:
4234:
4231:
4230:
4228:
4224:
4213:
4209:
4205:
4201:
4197:
4194:
4191:
4187:
4183:
4180:
4177:
4173:
4169:
4166:
4163:
4159:
4155:
4152:
4149:
4145:
4141:
4138:
4135:
4131:
4127:
4126:Ewing sarcoma
4124:
4123:
4121:
4117:
4106:
4102:
4098:
4095:
4092:
4088:
4084:
4081:
4078:
4074:
4070:
4067:
4064:
4060:
4056:
4053:
4052:
4050:
4046:
4040:
4037:
4034:
4030:
4026:
4023:
4021:
4018:
4014:
4011:
4008:
4004:
4000:
3997:
3994:
3990:
3986:
3983:
3982:
3980:
3976:
3973:
3971:
3967:
3963:
3960:
3958:
3954:
3944:
3941:
3939:
3936:
3935:
3932:
3929:
3927:
3924:
3922:
3919:
3918:
3915:
3912:
3910:
3907:
3905:
3902:
3901:
3898:
3895:
3893:
3890:
3888:
3885:
3883:
3880:
3878:
3875:
3874:
3872:
3870:
3866:
3861:
3857:
3853:
3847:
3844:
3843:
3841:
3839:
3835:
3832:
3829:
3825:
3821:
3811:
3810:Proximal 18q-
3807:
3804:
3803:
3797:
3793:
3789:
3786:
3785:
3784:
3783:
3779:
3778:
3773:
3770:
3769:
3768:
3765:
3761:
3758:
3757:
3756:
3753:
3749:
3746:
3745:
3744:
3741:
3737:
3734:
3733:
3732:
3728:
3724:
3721:
3717:
3714:
3713:
3712:
3709:
3705:
3702:
3701:
3700:
3697:
3693:
3690:
3689:
3688:
3684:
3681:
3677:
3674:
3673:
3672:
3669:
3665:
3662:
3661:
3659:
3655:
3651:
3647:
3643:
3639:
3638:
3636:
3634:
3630:
3622:
3619:
3618:
3617:
3614:
3612:
3609:
3607:
3604:
3600:
3597:
3596:
3595:
3594:Down syndrome
3592:
3590:
3587:
3585:
3582:
3580:
3577:
3573:
3570:
3569:
3568:
3565:
3563:
3560:
3558:
3555:
3553:
3550:
3548:
3545:
3543:
3540:
3538:
3535:
3534:
3532:
3530:
3525:Duplications,
3523:
3520:
3518:
3514:
3510:
3503:
3498:
3496:
3491:
3489:
3484:
3483:
3480:
3467:
3463:
3460:
3458:
3454:
3453:
3449:
3447:
3443:
3442:
3438:
3437:
3434:
3430:
3423:
3419:
3418:
3414:
3412:
3408:
3407:
3403:
3401:
3397:
3396:
3392:
3388:
3386:
3382:
3381:
3377:
3373:
3371:
3367:
3366:
3362:
3358:
3357:
3354:
3349:
3345:
3338:
3333:
3329:
3328:
3324:
3307:
3303:
3299:
3292:
3289:
3276:
3272:
3271:
3266:
3260:
3257:
3252:
3248:
3243:
3238:
3233:
3228:
3224:
3220:
3216:
3209:
3206:
3201:
3197:
3193:
3189:
3185:
3181:
3177:
3173:
3169:
3165:
3158:
3155:
3150:
3146:
3142:
3138:
3134:
3130:
3123:
3120:
3115:
3111:
3106:
3101:
3097:
3093:
3089:
3085:
3081:
3074:
3071:
3066:
3062:
3058:
3054:
3050:
3046:
3045:
3037:
3034:
3029:
3025:
3021:
3017:
3016:
3008:
3005:
3000:
2996:
2992:
2988:
2984:
2980:
2979:
2971:
2968:
2963:
2959:
2955:
2951:
2947:
2943:
2939:
2935:
2931:
2927:
2926:
2918:
2915:
2910:
2906:
2902:
2898:
2894:
2890:
2889:
2881:
2878:
2873:
2869:
2864:
2859:
2855:
2851:
2847:
2840:
2837:
2832:
2828:
2824:
2820:
2816:
2812:
2805:
2802:
2797:
2793:
2789:
2785:
2781:
2777:
2770:
2767:
2762:
2758:
2754:
2750:
2746:
2742:
2738:
2734:
2727:
2724:
2711:
2710:
2705:
2704:"Tetrasomy X"
2699:
2696:
2691:
2687:
2682:
2677:
2673:
2669:
2665:
2661:
2657:
2650:
2647:
2642:
2636:
2632:
2625:
2622:
2610:
2606:
2599:
2596:
2591:
2585:
2581:
2574:
2572:
2568:
2563:
2559:
2555:
2551:
2547:
2543:
2536:
2534:
2530:
2525:
2521:
2516:
2511:
2507:
2503:
2499:
2495:
2491:
2484:
2481:
2476:
2472:
2468:
2464:
2457:
2454:
2449:
2445:
2440:
2435:
2431:
2427:
2423:
2416:
2413:
2408:
2404:
2400:
2396:
2392:
2388:
2381:
2378:
2373:
2369:
2365:
2361:
2357:
2353:
2349:
2345:
2338:
2335:
2330:
2326:
2322:
2318:
2314:
2310:
2303:
2300:
2295:
2291:
2286:
2281:
2277:
2273:
2269:
2265:
2261:
2254:
2251:
2246:
2242:
2237:
2232:
2228:
2224:
2220:
2213:
2211:
2209:
2205:
2193:
2189:
2188:"Karyotyping"
2182:
2179:
2174:
2170:
2166:
2162:
2155:
2152:
2147:
2143:
2138:
2133:
2128:
2123:
2119:
2115:
2111:
2104:
2101:
2096:
2092:
2087:
2082:
2078:
2074:
2070:
2063:
2060:
2055:
2049:
2045:
2038:
2035:
2030:
2026:
2021:
2016:
2011:
2006:
2002:
1998:
1994:
1987:
1984:
1979:
1975:
1970:
1965:
1961:
1957:
1953:
1946:
1943:
1938:
1934:
1927:
1924:
1919:
1915:
1911:
1907:
1903:
1899:
1895:
1891:
1884:
1881:
1876:
1872:
1867:
1862:
1857:
1852:
1848:
1844:
1840:
1833:
1830:
1825:
1821:
1817:
1813:
1809:
1805:
1801:
1797:
1790:
1787:
1782:
1778:
1773:
1768:
1764:
1760:
1756:
1749:
1746:
1741:
1737:
1733:
1729:
1725:
1721:
1717:
1713:
1706:
1703:
1698:
1694:
1690:
1686:
1682:
1678:
1674:
1670:
1663:
1661:
1657:
1652:
1648:
1644:
1640:
1636:
1632:
1625:
1622:
1617:
1613:
1608:
1603:
1599:
1595:
1591:
1584:
1581:
1576:
1572:
1568:
1564:
1560:
1556:
1549:
1546:
1534:
1527:
1520:
1517:
1512:
1508:
1501:
1498:
1493:
1489:
1485:
1481:
1474:
1472:
1468:
1463:
1459:
1454:
1449:
1444:
1439:
1435:
1431:
1427:
1420:
1418:
1414:
1409:
1405:
1400:
1395:
1390:
1385:
1381:
1377:
1373:
1366:
1363:
1357:
1352:
1348:
1344:
1340:
1333:
1330:
1325:
1321:
1317:
1313:
1309:
1305:
1301:
1297:
1290:
1288:
1284:
1279:
1275:
1271:
1267:
1263:
1259:
1255:
1251:
1244:
1241:
1236:
1232:
1225:
1223:
1219:
1214:
1210:
1205:
1200:
1195:
1190:
1186:
1182:
1178:
1171:
1169:
1167:
1165:
1163:
1161:
1159:
1155:
1150:
1146:
1141:
1136:
1131:
1126:
1122:
1118:
1114:
1110:
1106:
1099:
1096:
1091:
1087:
1082:
1077:
1072:
1067:
1063:
1059:
1055:
1048:
1045:
1037:
1033:
1026:
1025:"Tetrasomy X"
1019:
1017:
1015:
1013:
1011:
1009:
1007:
1005:
1003:
1001:
999:
997:
995:
993:
991:
987:
982:
978:
974:
970:
966:
962:
958:
954:
947:
945:
943:
939:
934:
930:
925:
920:
916:
912:
908:
901:
899:
897:
895:
891:
878:
874:
868:
865:
849:
845:
841:
834:
827:
824:
819:
815:
811:
807:
803:
799:
792:
790:
788:
786:
784:
782:
780:
778:
776:
774:
772:
770:
768:
766:
764:
762:
760:
756:
744:
740:
733:
730:
723:
715:
711:
705:
702:
696:
693:
687:
684:
677:
673:
670:
669:
665:
663:
659:
657:
651:
647:
644:
641:in 1960, and
640:
636:
632:
628:
619:
617:
615:
610:
603:
601:
599:
595:
586:
584:
582:
581:Down syndrome
577:
575:
571:
567:
566:short stature
563:
559:
557:
553:
549:
545:
544:hypertelorism
541:
537:
529:
527:
525:
521:
517:
513:
505:
503:
501:
496:
494:
490:
489:Down syndrome
486:
481:
479:
475:
471:
467:
463:
459:
455:
451:
447:
443:
434:
427:
425:
423:
419:
418:Down syndrome
415:
411:
407:
403:
399:
395:
391:
386:
384:
380:
375:
370:
365:
363:
359:
355:
351:
347:
341:
338:
334:
330:
326:
322:
318:
314:
310:
306:
302:
301:hypertelorism
298:
294:
290:
286:
281:
278:
274:
270:
266:
261:
257:
239:
230:
228:
226:
222:
218:
214:
209:
207:
206:Down syndrome
203:
199:
194:
192:
188:
187:pinky fingers
184:
180:
179:heart defects
176:
172:
168:
164:
160:
152:
151:Down syndrome
148:
144:
141:
139:
135:
132:
129:
127:
123:
120:
117:
113:
109:
105:
101:
97:
93:
92:dysmorphology
89:
87:
83:
78:
72:
69:
67:
63:
58:
54:
49:
45:
41:
36:
30:
19:
18:XXXX syndrome
3908:
3780:
3654:TAR syndrome
3557:Tetrasomy 9p
3461:
3450:
3439:
3415:
3404:
3389:
3374:
3359:
3310:. Retrieved
3301:
3291:
3279:. Retrieved
3275:the original
3268:
3259:
3222:
3218:
3208:
3167:
3163:
3157:
3132:
3129:Cytogenetics
3128:
3122:
3090:(1): 83â85.
3087:
3083:
3073:
3048:
3042:
3036:
3019:
3013:
3007:
2982:
2976:
2970:
2929:
2923:
2917:
2892:
2886:
2880:
2853:
2849:
2839:
2814:
2810:
2804:
2779:
2775:
2769:
2736:
2732:
2726:
2714:. Retrieved
2707:
2698:
2663:
2659:
2649:
2630:
2624:
2612:. Retrieved
2608:
2598:
2579:
2548:(1): 67â74.
2545:
2541:
2497:
2493:
2483:
2466:
2462:
2456:
2429:
2425:
2415:
2390:
2386:
2380:
2347:
2343:
2337:
2312:
2308:
2302:
2267:
2263:
2253:
2226:
2222:
2195:. Retrieved
2191:
2181:
2168:
2164:
2154:
2117:
2113:
2103:
2076:
2072:
2062:
2043:
2037:
2000:
1996:
1986:
1959:
1955:
1945:
1936:
1932:
1926:
1896:(1): 66â77.
1893:
1889:
1883:
1846:
1842:
1832:
1799:
1795:
1789:
1762:
1758:
1748:
1715:
1711:
1705:
1672:
1668:
1634:
1630:
1624:
1597:
1593:
1583:
1558:
1554:
1548:
1536:. Retrieved
1532:
1519:
1510:
1506:
1500:
1483:
1479:
1433:
1429:
1379:
1375:
1365:
1349:(1): 65â68.
1346:
1342:
1332:
1299:
1295:
1253:
1249:
1243:
1234:
1230:
1184:
1180:
1112:
1108:
1098:
1061:
1057:
1047:
1031:
956:
952:
914:
910:
881:. Retrieved
867:
855:. Retrieved
843:
839:
826:
801:
797:
746:. Retrieved
742:
732:
714:sex reversal
704:
695:
686:
660:
652:
648:
623:
614:Y chromosome
611:
607:
604:Epidemiology
590:
578:
570:microcephaly
560:
533:
512:aneuploidies
509:
497:
482:
439:
387:
366:
342:
335:, where the
333:taurodontism
325:pinky finger
321:Clinodactyly
285:aneuploidies
282:
234:
231:Presentation
210:
195:
183:clinodactyly
171:X chromosome
162:
158:
157:
29:
3943:46,XX/46,XY
3860:tetrasomies
3806:Distal 18q-
3446:Tetrasomy X
3337:Tetrasomy X
2192:MedlinePlus
1939:(2): 61â72.
1513:(9): 56â58.
1237:(1): 37â40.
562:Pentasomy X
510:Chromosome
480:karyotype.
470:pentasomy X
422:omphalocele
408:, or early
309:pentasomy X
256:Anglosphere
159:Tetrasomy X
147:pentasomy X
99:Usual onset
43:Other names
38:Tetrasomy X
4307:Categories
3938:45,X/46,XY
3838:Monosomies
3611:Trisomy 22
3589:Trisomy 18
3579:Trisomy 16
3527:including
2171:(1): 172.
2120:: 935202.
2003:(1): 1â7.
1765:: 108320.
1115:(97): 97.
798:Pediatrics
724:References
598:vocational
442:aneuploidy
198:phenotypes
185:(incurved
102:Conception
3856:Trisomies
3633:Deletions
3552:Trisomy 9
3547:Trisomy 8
3529:trisomies
3517:Autosomal
3417:SNOMED CT
2407:221391356
1382:(1): 42.
1250:Pituitary
911:Hereditas
710:trans man
637:in 1959,
596:, mostly
587:Prognosis
556:mosaicism
540:hypotonia
536:trisomy X
516:karyotype
506:Diagnosis
500:trisomy X
410:menopause
379:psychosis
317:Hypotonia
313:trisomy X
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