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)
✦ LIBER ✦
del(X)(p22.1)/r(X)(p22.1q28) dynamic mosaicism in a Turner syndrome patient
✍ Scribed by Melva Gutiérrez-Angulo; Brissia Lazalde; Ana I Vasquez; Caridad Leal; Elisa Corral; Horacio Rivera
- Book ID
- 113987283
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 74 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0003-3995
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