Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts
✍ Scribed by Marion S. Verp; Barbara Rosinsky; Michelle M. Le Beau; Alice O. Martin; Randi Kaplan; Carl-Bertil Wallemark; Lucas Otano; Joe Leigh Simpson
- Book ID
- 115089795
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 566 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0009-9163
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We describe an infant with dysgenetic male pseudohermaphroditism and the karyotype 45,X/46,X,del(Y)(q11.1). Histologic examination of the resected gonads showed cortical dysplasia indicative of incipient gonadoblastoma.
Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)