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Trisomy 9 mosaicism and XX sex reversal
Author(s) -
Solomon Benjamin D.,
Turner Clesson E.,
Klugman Darren,
Sparks Susan E.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31996
Subject(s) - trisomy , hypoplasia , karyotype , trisomy 8 , anatomy , choanal atresia , biology , medicine , chromosome , atresia , genetics , gene
Abstract We report on a case of a phenotypic male infant who was referred to the genetics service due to dysmorphic features and congenital cardiac anomalies. Dysmorphic features included low‐set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia, short neck, overlapping fingers, rocker‐bottom feet, prominent heels, and hypoplastic toenails. The phallus was normal and no testes were palpable in the scrotal sac. Cardiac anomalies included tricuspid atresia and a ventricular septal defect. The karyotype was 46,XX. Diagnostic microarray demonstrated evidence for trisomy 9 mosaicism, metaphase FISH revealed trisomy 9 on 7% of cultured cells, and interphase FISH analysis of a peripheral blood smear showed trisomy 9 in 78% of the cells examined. This is the first reported case of XX sex reversal in a patient with trisomy 9 mosaicism. © 2007 Wiley‐Liss, Inc.