47:
746:
Climent Alcalá, F.J.; Molina RodrĂguez, M.A.; González Casado, I.; Osona Bris, L.; Salamanca Fresno, L.; Guerrero-Fernández, J.; MartĂnez-FrĂas, M.L.; Gracia
Bouthelier, R. (March 2010). "DeleciĂłn 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ÂżSĂndrome de genes
111:
that are commonly associated with it. The cause of the syndrome was first discovered in 1973, when an analysis of the chromosomes of three infants with similar clinical abnormalities revealed that they all had a partial deletion of the short arm of
Chromosome 9. Symptoms include
327:
to repair the facial malformations. This can open airways for the infant or patient, especially the nose-to-throat pathway. Similarly, to fix heart malformations, physicians can recommend surgery or medication to improve the efficiency of the pumping of the heart. Lastly
372:
Kawara, Hiroki; Yamamoto, Toshiyuki; Harada, Naoki; Yoshiura, Koh-ichiro; Niikawa, Norio; Nishimura, Akira; Mizuguchi, Takeshi; Matsumoto, Naomichi (15 February 2006). "Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23".
825:
243:
The 9p deletion causes a loss of genes that would normally be there. The signs, symptoms and severity of the condition depend on the specific genes that are lost. Most of the genes involved are associated with the development of tissues.
278:
Diagnoses can occur at any age. Most of the time chromosome 9p deletion syndrome is diagnosed after birth by the detection of symptoms via clinical evaluation. Common methods used to detect monosomy 9p after birth include the use of a
953:
198:'s upper or lower limb, including absence of the limb, a failure of portions of the limb (commonly fingers and toes) to separate, duplication of digits, overgrowth, or undergrowth.
911:
666:
747:
contiguos?" [Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?].
270:
originally had the syndrome narrowed down to the short arm region of chromosome 9. Now, the location of the deletion has recently been narrowed to 9p22.2-p23.
1724:
1480:
231:, which occurs in the form of a deletion of the short arm of chromosome 9, causes the cell to not express the gene products normally controlled by the
477:
Cakmakkaya, Ozlem Serpil; Bakan, Mefkur; Altintas, Fatis; Kaya, Guner (January 2007). "Anesthetic management in a child with deletion 9p syndrome".
904:
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897:
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Treatment of monosomy 9p focuses mainly on fixing the malformations. For example, to fix facial malformations, physicians can perform
1583:
674:
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Monosomy 9p occurs 1 in 50,000 births. Half of the cases occur sporadically, while the other half of the cases result from parent
1166:
1565:
1508:
1098:
96:
315:, a procedure used to examine a patient's chromosomes, can be used to diagnose monosomy 9p both before birth and after birth.
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inheritance pattern. This means that a single copy of the deletion is sufficient to cause the disease.
1424:
1349:
1288:
1094:
609:
Eixarch, Elisenda; Figueras, Francesc; GĂłmez, Olga; Puerto, Bienvenido (2018). "Facial
Dysmorphism".
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are delays in the emergence of the psychomotor skills that naturally develop from birth through
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88:
586:"Psychomotor Development Retardation (PDR) | Rainbowkids Adoption & Child Welfare Advocacy"
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107:, and genital defects are observed. Treatments for this syndrome usually focus on fixing the
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303:(CVS). Ultrasound can hint at the malformations of the face, limbs, and heart, while
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Cioni, Giovanni; Sgandurra, Giuseppina (2013). "Normal psychomotor development".
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521:"Monosomy 9p - About the Disease - Genetic and Rare Diseases Information Center"
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can be used to improve the developmental delay associated with the syndrome.
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and CVS both use fluid and tissue to perform chromosomal studies to identify
247:
There are many possible genes that can be deleted, but two particular genes,
1315:
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are evident, but the direct mechanisms for these problems remain undefined.
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643:"Chromosome 9, Partial Monosomy 9p - Symptoms, Causes, Treatment | NORD"
95:. This rare chromosomal abnormality is often diagnosed after birth when
1484:
1267:
940:
252:
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and DMRT2, are known to be involved. When DMRT1 and DMRT2 are deleted,
183:(an absence of the mandible and a fusion of the ears under the chin).
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are abnormalities in facial structure, including a sloping forehead,
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842:
548:. Handbook of Clinical Neurology. Vol. 111. pp. 3–15.
232:
893:
1400:
72:
696:"Chromosome 9p deletion syndrome - Conditions - GTR - NCBI"
454:"Chromosome 9p deletion syndrome - Conditions - GTR - NCBI"
741:
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179:(in which one side of the face is underdeveloped), and
667:"Congenital Limb Defects | Boston Children's Hospital"
807:
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1043:
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34:
26:
21:
291:. Monosomy 9p is also diagnosed before birth by
434:NORD (National Organization for Rare Disorders)
367:
365:
1659:46,XX testicular disorders of sex development
905:
8:
1481:Acute myeloblastic leukemia with maturation
611:Obstetric Imaging: Fetal Diagnosis and Care
375:American Journal of Medical Genetics Part A
215:pattern for monosomy 9p is inherited in an
194:are the result of altered development of a
87:(9p22.2-p23). This deletion either happens
1386:
1373:
1245:
933:
912:
898:
890:
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105:structural irregularities within the heart
45:
18:
160:. The severity of these delays can vary.
361:
352:or the parent having deletion as well.
91:or as a result of a parent having the
7:
1594:Desmoplastic small-round-cell tumor
430:"Chromosome 9, Partial Monosomy 9p"
1725:Autosomal monosomies and deletions
619:10.1016/B978-0-323-44548-1.00069-3
554:10.1016/B978-0-444-52891-9.00001-4
235:within the chromosome 9 deletion.
14:
1167:22q11.2 distal deletion syndrome
491:10.1111/j.1460-9592.2006.02016.x
142:Psychomotor developmental delays
1566:Dermatofibrosarcoma protuberans
1509:Acute megakaryoblastic leukemia
1437:Anaplastic large-cell lymphoma
1099:Chromosome 5q deletion syndrome
173:a prominent protruding forehead
137:Psychomotor development delays
1:
1289:Klinefelter syndrome (47,XXY)
1054:1q21.1 copy number variations
1495:Acute promyelocytic leukemia
1451:Acute lymphoblastic leukemia
1143:17q12 microdeletion syndrome
1018:22q11.2 duplication syndrome
996:16p11.2 duplication syndrome
761:10.1016/j.anpedi.2009.10.018
1062:1q21.1 duplication syndrome
949:1q21.1 duplication syndrome
1741:
546:Pediatric Neurology Part I
1608:Alveolar rhabdomyosarcoma
1343:XYYYY syndrome (49,XYYYY)
1309:XXXXY syndrome (49,XXXXY)
1304:XXXYY syndrome (49,XXXYY)
671:www.childrenshospital.org
525:rarediseases.info.nih.gov
309:chromosomal abnormalities
301:chorionic villus sampling
1083:Wolf–Hirschhorn syndrome
1058:1q21.1 deletion syndrome
921:Chromosome abnormalities
1467:Philadelphia chromosome
1338:XYYY syndrome (48,XYYY)
1299:XXXY syndrome (48,XXXY)
1294:XXYY syndrome (48,XXYY)
1179:22q13 deletion syndrome
954:2q31.1 microduplication
192:Congenital limb defects
118:intellectual disability
75:is missing or has been
1326:Pentasomy X (49,XXXXX)
1258:Turner syndrome (45,X)
1139:Smith–Magenis syndrome
1135:Miller–Dieker syndrome
1070:1p36 deletion syndrome
93:chromosome abnormality
1333:XYY syndrome (47,XYY)
1321:Tetrasomy X (48,XXXX)
1204:Prader–Willi syndrome
187:Malformation of limbs
177:hemifacial microsomia
81:short arm region, "p"
1425:Mantle cell lymphoma
1095:Cri du chat syndrome
700:www.ncbi.nlm.nih.gov
479:Pediatric Anesthesia
458:www.ncbi.nlm.nih.gov
387:10.1002/ajmg.a.31094
69:chromosomal disorder
30:9p deletion syndrome
1411:Follicular lymphoma
783:"What is 9p Minus?"
749:Anales de PediatrĂa
720:"What is 9p Minus?"
207:Inheritance pattern
169:Facial dysmorphisms
126:dysmorphic features
97:developmental delay
1650:Uniparental disomy
1645:Fragile X syndrome
1580:Myxoid liposarcoma
1432:t(11 CCND1:14 IGH)
1316:Trisomy X (47,XXX)
1194:genomic imprinting
974:Distal trisomy 10q
864:External resources
330:remedial education
257:mental retardation
255:malformations and
217:autosomal dominant
164:Facial dysmorphism
132:Signs and symptoms
1712:
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1664:Marker chromosome
1633:
1632:
1526:
1525:
1363:
1362:
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1229:
1200:Angelman syndrome
1155:DiGeorge syndrome
1123:Jacobsen syndrome
1111:Williams syndrome
887:
886:
628:978-0-323-44548-1
563:978-0-444-52891-9
83:, of one copy of
54:
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16:Medical condition
1732:
1655:XX male syndrome
1552:Synovial sarcoma
1429:Multiple myeloma
1397:Burkitt lymphoma
1387:
1374:
1277:other karyotypes
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1028:Cat-eye syndrome
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673:. Archived from
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338:physical therapy
156:, language, and
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41:Medical genetics
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787:www.9pminus.org
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114:micro genitalia
101:facial features
61:Alfi's Syndrome
59:(also known as
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812:Classification
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804:External links
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755:(3): 210–214.
751:(in Spanish).
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613:: 327–331.e1.
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381:(4): 373–377.
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350:translocations
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334:speech therapy
325:facial surgery
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109:malformations
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102:
98:
94:
90:
86:
82:
78:
74:
70:
66:
62:
58:
48:
42:
39:
37:
33:
29:
25:
20:
1192:
1066:TAR syndrome
969:Tetrasomy 9p
871:
847:
836:
824:
790:. Retrieved
786:
777:
752:
748:
727:. Retrieved
723:
714:
703:. Retrieved
699:
690:
679:. Retrieved
675:the original
670:
661:
650:. Retrieved
646:
637:
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604:
593:. Retrieved
589:
580:
545:
539:
528:. Retrieved
524:
515:
485:(1): 88–89.
482:
478:
472:
461:. Retrieved
457:
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437:. Retrieved
433:
378:
374:
347:
344:Epidemiology
322:
277:
266:
246:
242:
226:
210:
190:
167:
148:, including
140:
122:microcephaly
99:, irregular
85:chromosome 9
67:) is a rare
64:
60:
56:
55:
1355:46,XX/46,XY
1272:tetrasomies
1218:Distal 18q-
313:karyotyping
311:. Finally,
281:stethoscope
268:Geneticists
213:inheritance
146:adolescence
57:Monosomy 9p
27:Other names
22:Monosomy 9p
1350:45,X/46,XY
1250:Monosomies
1023:Trisomy 22
1001:Trisomy 18
991:Trisomy 16
939:including
792:2021-04-26
729:2021-05-01
705:2021-05-01
681:2021-04-26
652:2024-01-13
595:2021-04-26
530:2024-01-13
463:2021-04-26
439:2021-04-26
356:References
319:Management
293:ultrasound
181:otocephaly
63:or simply
1268:Trisomies
1045:Deletions
964:Trisomy 9
959:Trisomy 8
941:trisomies
929:Autosomal
274:Diagnosis
150:cognitive
36:Specialty
1719:Category
1390:Lymphoid
1382:lymphoma
1378:Leukemia
873:Orphanet
769:20138017
572:23622146
507:38706898
499:17184442
403:32538366
395:16419130
263:Location
229:mutation
223:Mutation
202:Genetics
1618:) t (1
1485:RUNX1T1
1460:Myeloid
1281:mosaics
854:C538024
833:: Q93.5
253:genital
89:de novo
79:on the
77:deleted
1570:COL1A1
1242:linked
878:261112
843:158170
767:
625:
570:
560:
505:
497:
401:
393:
336:, and
299:, and
287:, and
43:
1638:Other
1624:FOXO1
1622:; 13
1616:FOXO1
1614:; 13
1600:; 22
1596:t(11
1586:; 16
1584:DDIT3
1582:t(12
1574:PDGFB
1568:t(17
1544:; 22
1540:t(11
1531:Other
1513:RBM15
1497:t(15
1489:RUNX1
1473:; 22
1413:t(14
503:S2CID
399:S2CID
285:X-ray
249:DMRT1
233:genes
196:fetus
154:motor
120:with
1620:PAX7
1612:PAX3
1610:t(2
1572:;22
1558:;18
1554:t(x
1542:FLI1
1517:MKL1
1515:;22
1511:t(1
1503:RARA
1501:,17
1487:;21
1483:t(8
1469:t(9
1445:NPM1
1439:t(2
1419:BCL2
1417:;18
1403:;14
1399:t(8
849:MeSH
838:OMIM
765:PMID
623:ISBN
568:PMID
558:ISBN
495:PMID
391:PMID
379:140A
227:The
211:The
124:and
1602:EWS
1598:WT1
1588:FUS
1560:SSX
1556:SYT
1546:EWS
1499:PML
1475:BCR
1471:ABL
1443:;5
1441:ALK
1415:IGH
1405:IGH
1401:MYC
826:ICD
757:doi
615:doi
550:doi
487:doi
383:doi
289:EKG
73:DNA
65:9P-
1721::
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1700:,
1698:21
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1692:;
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1688:;
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385::
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