Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia



Sotoudeh A^{1, 2} ; Rostami P^{1, 2} ; Nakhaeimoghadam M^{1, 2} ; Mohsenipour R^{1, 2} ; Rezaei N^{3, 4, 5}
Source: Acta Medica Iranica Published:2017

Abstract

Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia. © 2017 Tehran University of Medical Sciences. All rights reserved.