Trisomy 13 with bilateral hand oligodactyly
β Scribed by Kuschel, Bettina; Gillessen-Kaesbach, Gabriele
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 13 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000103)90:1<87::aid-ajmg18>3.0.co;2-i
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β¦ Synopsis
Trisomy 13 is a common cause of preterm birth and stillbirth in the second and third trimester of pregnancy. Microcephaly, scalp defects, wide anterior fontanelles and sutures, micro-to anophthalmia, cleft pal-
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Twenty-four cases of trisomy 13 and one case with disomy 13, but a de novo dic ( 13,131 ( ~1 2 ~1 2 ) chromosome, were examined with molecular markers to determine the origin of the extra (or rearranged) chromosome. Twenty-one of 23 informative patients were consistent with a maternal origin of the
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