Child with multiple congenital anomalies and mosaicism 46, XX/46,XX, del (14)(q32.3)
✍ Scribed by Miller, Bruce Alan ;Jayakar, Parul ;Capó, Hilda
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 214 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0148-7299
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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)
## Abstract Mosaicism for two chromosomally abnormal cell lines in the absence of a normal cell line is exceedingly rare. We report a patient with developmental and growth delay, mild dysmorphic features, a history of hypertension and hepatoblastoma who was found to be mosaic for two chromosomally