Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia

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.

Keywords

• Pericentric inversion of chromosome 9
• Chromosomal structural abnormalities
• Ambiguous genitalia