40:
493:. However, recent research shows some important differences in males with 48,XXYY compared to 47, XXY. The most important differences result from the effects of the extra X and Y chromosome on neurodevelopment, leading to higher rates of developmental delays in early childhood, learning disability or intellectual disability, adaptive functioning (life skills) difficulties,
481:; however, chromosome testing revealed 48,XXYY instead of the 47, XXY arrangement known to cause Klinefelter syndrome. Because of this, 48,XXYY syndrome was originally considered a variation of Klinefelter syndrome. Shared physical and medical features resulting from the presence of an extra X chromosome include tall stature, the development of
320:. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the
357:. Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes (one X and two Y chromosomes). If that sperm cell fertilizes a normal egg cell with one X chromosome, the resulting child will have two X chromosomes and two Y chromosomes in each of his body's cells.
453:, and language pragmatics may be needed into adulthood. Adaptive skills (life skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood. Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required.
404:
Most children with XXYY have some developmental delays and learning disabilities. Therefore, these aspects should be checked and monitored: psychology (cognitive and social–emotional development), speech/language therapy, occupational therapy, and physical therapy. Consultation with a developmental
529:
of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should be any differences in the evaluation and treatment of testosterone deficiency in 48,XXYY compared to 47, XXY. However, for the psychological and behavioral
368:
has occurred. This means that a normal sperm cell with one Y chromosome fertilized a normal egg cell with one X chromosome, but right after fertilization, nondisjunction of the sex chromosomes caused the embryo to gain two extra sex chromosomes, resulting in a 48,XXYY embryo.
445:
should be introduced at an early age to facilitate schoolwork and self-help skills. Educational difficulties should be evaluated with a full psychological evaluation to identify discrepancies between verbal and performance skills and to identify individual academic needs.
534:
involvement. Significant variability is seen between individuals in the number and severity of the medical and neurodevelopmental problems associated with XXYY, and some individuals have mild symptoms, while others are more significantly affected.
420:
Common diagnoses such as learning disability/ID, ADHD, autism spectrum disorders, mood disorders, tic disorders, and other mental health problems should be considered, screened for, and treated. Good responses to standard medication treatments for
76:
usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y chromosome with a properly functioning
901:
332:
are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not yet been identified.
1007:
965:
764:
Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM, Jr (2007). "Behavioral phenotype of sex chromosome aneuploidies: 48, XXYY, 48, XXXY, and 49,XXXXY".
433:, and mood instability are seen in this group, and such treatment can positively impact academic progress, emotional wellbeing, and long-term outcome. Poor
1534:
401:
abilities due to positive effects on bone health, muscle strength, fatigue, and endurance, with possible mental health/behavioral benefits, as well.
165:
316:. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female
958:
353:
results in a reproductive cell with an abnormal number of chromosomes. In 48,XXYY syndrome, the extra sex chromosomes almost always comes from a
525:), and tremor compared to males with XXY. XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the
530:
symptoms of XXYY syndrome, more extensive evaluations, interventions, and supports are usually needed compared to 47, XXY due to more complex
866:
1783:
1647:
951:
738:
449:
Expressive language skills are often affected throughout life, and speech therapy interventions targeting expressive language skills,
312:
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each
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1220:
88:
male. Males with XXYY syndrome have 48 chromosomes instead of the typical 46. This is why XXYY syndrome is sometimes written as
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486:
381:
is done to diagnose XXYY syndrome. Treatment consists of medications, behavioral therapies, and intensive community support.
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Muldal S, Ockey CH (August 27, 1960). "The "double male": a new chromosome constitution in
Klinefelter's syndrome".
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In a small percentage of cases, 48,XXYY syndrome results from nondisjunction of the sex chromosomes in a 46,XY
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The first published report of a boy with a 48,XXYY karyotype was by
Sylfest Muldal and Charles H. Ockey in
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Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005).
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to develop a treatment plan including therapies, behavioral interventions, educational supports, and
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Patients have an essentially normal life expectancy, but require regular medical follow-ups.
33:
48,XXY Y Klinefelter syndrome (archaic); 48,XXYY variant of
Klinefelter's syndrome (archaic)
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1708:
1605:
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1081:
839:
773:
637:
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177:
808:
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580:"48,XXYY syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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is present, testosterone treatment should be considered in all individuals regardless of
587:
517:. Also, a larger percentage of males with XXYY have additional medical problems such as
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1362:
1357:
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642:
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843:
328:. Many genes are found only on the X or Y chromosome, but genes in areas known as the
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in 1960. It was described in a 15-year-old mentally disabled boy who showed signs of
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Very frequent signs and symptoms of this condition include the following:
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739:"Researchers define characteristics, treatment options for XXYY Syndrome"
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can make handwriting slow and laborious, and occupational therapy and
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96:. It affects an estimated one in every 18,000–40,000 male births.
618:"A New Look at XXYY Syndrome: Medical and Psychological Features"
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345:; it usually occurs as a random event during the formation of
141:
Other frequent signs of this condition include the following:
78:
417:
for behavioral and psychiatric symptoms should be arranged.
505:
disorders, and psychological/behavioral problems including
616:
Tartaglia N, Davis S, Hench A, et al. (June 2008).
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from functioning normally and reducing the levels of
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349:(eggs and sperm). An error in cell division called
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24:
861:. St. Louis, Mo: Elsevier Saunders. p. 179.
859:Robbins and Cotran pathologic basis of disease
693:
691:
689:
611:
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605:
84:makes a male. Therefore, humans with XXYY are
1713:46,XX testicular disorders of sex development
959:
703:Genetics and Rare Diseases Information Center
673:Genetics and Rare Diseases Information Center
389:Patients generally need to be followed by an
8:
1535:Acute myeloblastic leukemia with maturation
766:American Journal of Medical Genetics Part A
622:American Journal of Medical Genetics Part A
280:Other symptoms may include the following:
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1427:
1299:
987:
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952:
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884:
741:. University of California. Archived from
38:
21:
641:
166:Attention-deficit hyperactivity disorder
571:
663:
661:
60:anomaly in which males have two extra
7:
732:
730:
1648:Desmoplastic small-round-cell tumor
521:, congenital elbow malformations (
14:
485:in adolescence and/or adulthood (
16:Extra X and Y chromosome in males
1221:22q11.2 distal deletion syndrome
807:Corsini, Carole; Sarda, Pierre.
1620:Dermatofibrosarcoma protuberans
1563:Acute megakaryoblastic leukemia
1491:Anaplastic large-cell lymphoma
1153:Chromosome 5q deletion syndrome
487:hypergonadotropic hypogonadism
121:Hypergonadotropic hypogonadism
1:
1343:Klinefelter syndrome (47,XXY)
1108:1q21.1 copy number variations
844:10.1016/S0140-6736(60)91624-X
341:The condition 48,XXYY is not
1549:Acute promyelocytic leukemia
1505:Acute lymphoblastic leukemia
1197:17q12 microdeletion syndrome
1072:22q11.2 duplication syndrome
1050:16p11.2 duplication syndrome
495:neurodevelopmental disorders
152:Abnormal shoulder morphology
1784:Sex chromosome aneuploidies
1116:1q21.1 duplication syndrome
1003:1q21.1 duplication syndrome
1820:
1662:Alveolar rhabdomyosarcoma
1397:XYYYY syndrome (49,XYYYY)
1363:XXXXY syndrome (49,XXXXY)
1358:XXXYY syndrome (49,XXXYY)
584:rarediseases.info.nih.gov
114:Decreased testicular size
46:
37:
1137:Wolf–Hirschhorn syndrome
1112:1q21.1 deletion syndrome
975:Chromosome abnormalities
545:Sex chromosome anomalies
415:psychotropic medications
1521:Philadelphia chromosome
1392:XYYY syndrome (48,XYYY)
1353:XXXY syndrome (48,XXXY)
1348:XXYY syndrome (48,XXYY)
1233:22q13 deletion syndrome
1008:2q31.1 microduplication
737:Brown, Phyllis (2007).
721:Genetics Home Reference
483:testosterone deficiency
437:and the development of
435:fine-motor coordination
330:pseudoautosomal regions
131:Intellectual impairment
1380:Pentasomy X (49,XXXXX)
1312:Turner syndrome (45,X)
1193:Smith–Magenis syndrome
1189:Miller–Dieker syndrome
1124:1p36 deletion syndrome
240:Joint hyperflexibility
1387:XYY syndrome (47,XYY)
1375:Tetrasomy X (48,XXXX)
1258:Prader–Willi syndrome
523:radioulnar synostosis
285:Learning disabilities
255:Radioulnar synostosis
1479:Mantle cell lymphoma
1149:Cri du chat syndrome
778:10.1002/ajmg.a.31746
634:10.1002/ajmg.a.32366
479:Klinefelter syndrome
117:Developmental delays
1799:Intersex variations
1465:Follicular lymphoma
318:sex characteristics
1704:Uniparental disomy
1699:Fragile X syndrome
1634:Myxoid liposarcoma
1486:t(11 CCND1:14 IGH)
1370:Trisomy X (47,XXX)
1248:genomic imprinting
1028:Distal trisomy 10q
918:External resources
809:"48,XXYY syndrome"
717:"48,XXYY syndrome"
699:"48,XXYY syndrome"
669:"48,XXYY syndrome"
590:on 13 January 2020
532:neurodevelopmental
515:mood dysregulation
347:reproductive cells
295:Undescended testes
100:Signs and symptoms
1766:
1765:
1718:Marker chromosome
1687:
1686:
1580:
1579:
1417:
1416:
1284:
1283:
1254:Angelman syndrome
1209:DiGeorge syndrome
1177:Jacobsen syndrome
1165:Williams syndrome
941:
940:
868:978-0-7216-0187-8
772:(11): 1198–1203.
210:Elbow dislocation
136:Speech impairment
90:48, XXYY syndrome
51:
50:
19:Medical condition
1811:
1709:XX male syndrome
1606:Synovial sarcoma
1483:Multiple myeloma
1451:Burkitt lymphoma
1441:
1428:
1331:other karyotypes
1300:
1082:Cat-eye syndrome
988:
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745:on April 1, 2010
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586:. Archived from
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439:intention tremor
364:very soon after
178:Blepharophimosis
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1723:Ring chromosome
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838:(7147): 492–3.
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628:(12): 1509–22.
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527:pathophysiology
503:autism spectrum
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391:endocrinologist
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172:Autism spectrum
168:(ADHD) symptoms
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20:
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12:
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5:
1817:
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1804:Rare syndromes
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1779:Genodermatoses
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1423:Translocations
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1079:
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1033:Patau syndrome
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351:nondisjunction
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58:sex chromosome
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1592:Ewing sarcoma
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1276:Proximal 18q-
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1060:Down syndrome
1058:
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991:Duplications,
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55:
54:XXYY syndrome
47:XXYY syndrome
45:
41:
36:
32:
28:
25:XXYY syndrome
23:
1789:Y chromosome
1347:
1246:
1120:TAR syndrome
1023:Tetrasomy 9p
925:
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835:
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769:
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747:. Retrieved
743:the original
720:
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676:. Retrieved
672:
625:
621:
592:. Retrieved
588:the original
583:
574:
560:Taurodontism
468:
460:
448:
419:
407:psychiatrist
403:
395:hypogonadism
388:
376:
359:
340:
326:testosterone
311:
301:testosterone
279:
270:Taurodontism
265:Tall stature
225:Gynecomastia
206:otitis media
192:Constipation
188:Clinodactyly
140:
103:
93:
89:
70:Y chromosome
53:
52:
1409:46,XX/46,XY
1326:tetrasomies
1272:Distal 18q-
749:November 6,
678:20 February
555:Tetrasomy X
491:infertility
443:keyboarding
427:impulsivity
423:inattention
411:neurologist
236:muscle tone
110:Azoospermia
74:Human cells
62:chromosomes
30:Other names
1773:Categories
1404:45,X/46,XY
1304:Monosomies
1077:Trisomy 22
1055:Trisomy 18
1045:Trisomy 16
993:including
566:References
550:Aneuploidy
511:depression
471:Manchester
385:Management
355:sperm cell
260:Strabismus
214:Epicanthus
201:Depression
149:morphology
1794:Syndromes
1322:Trisomies
1099:Deletions
1018:Trisomy 9
1013:Trisomy 8
995:trisomies
983:Autosomal
457:Prognosis
451:dyspraxia
399:cognitive
379:karyotype
373:Diagnosis
343:inherited
290:Scoliosis
250:Flat feet
246:Open bite
174:disorders
145:Abnormal
126:Sterility
1444:Lymphoid
1436:lymphoma
1432:Leukemia
927:Orphanet
814:Orphanet
794:25732790
786:17497714
652:18481271
539:See also
519:seizures
497:such as
337:Genetics
204:Chronic
195:Delayed
94:48, XXYY
68:and one
1672:) t (1
1539:RUNX1T1
1514:Myeloid
1335:mosaics
909:: Q98.8
643:3056496
507:anxiety
489:), and
475:England
465:History
431:anxiety
243:Obesity
220:occiput
156:Anxiety
1624:COL1A1
1296:linked
865:
831:Lancet
792:
784:
723:. NIH.
705:. NIH.
650:
640:
594:19 May
513:, and
362:embryo
322:testes
276:Tremor
183:Caries
161:Asthma
64:, one
1692:Other
1678:FOXO1
1676:; 13
1670:FOXO1
1668:; 13
1654:; 22
1650:t(11
1640:; 16
1638:DDIT3
1636:t(12
1628:PDGFB
1622:t(17
1598:; 22
1594:t(11
1585:Other
1567:RBM15
1551:t(15
1543:RUNX1
1527:; 22
1467:t(14
790:S2CID
409:, or
393:. If
308:Cause
218:Flat
56:is a
1674:PAX7
1666:PAX3
1664:t(2
1626:;22
1612:;18
1608:t(x
1596:FLI1
1571:MKL1
1569:;22
1565:t(1
1557:RARA
1555:,17
1541:;21
1537:t(8
1523:t(9
1499:NPM1
1493:t(2
1473:BCL2
1471:;18
1457:;14
1453:t(8
863:ISBN
782:PMID
770:143A
751:2009
680:2023
648:PMID
626:146A
596:2019
499:ADHD
314:cell
299:Low
234:Low
82:gene
1656:EWS
1652:WT1
1642:FUS
1614:SSX
1610:SYT
1600:EWS
1553:PML
1529:BCR
1525:ABL
1497:;5
1495:ALK
1469:IGH
1459:IGH
1455:MYC
902:ICD
840:doi
836:276
774:doi
638:PMC
630:doi
501:or
92:or
79:SRY
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