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Triploid mosaicism in a 45,X/69,XXY infant

โœ Scribed by Denise I. Quigley; Marie T. McDonald; Vidya Krishnamuthy; Priya S. Kishnani; Mary M. Lee; Andrea M. Haqq; Barbara K. Goodman

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
97 KB
Volume
138A
Category
Article
ISSN
1552-4825

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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)