The 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 9 inv (p12q13). Trisomy 9 syndrome 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: trisomy 9, chromosomal structural abnormalities, ambiguous genitalia.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology