ESPE2016 Poster Presentations Gonads & DSD P2 (59 abstracts)
Trisomy 9 Syndrome in an Infant with Ambiguous Genitalia
Parastoo Rostami a,
aMaryam Nakhaeimoghadam, Tehran, Iran; bArya Sotoudeh, Tehran, Iran; cReihaneh Mohsenipour, Tehran, Iran; dNima Rezaei, Tehran, Iran; eParastoo Rostami, Tehran, Iran
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.
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