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Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia



Sotoudeh A1, 2 ; Rostami P1, 2 ; Nakhaeimoghadam M1, 2 ; Mohsenipour R1, 2 ; Rezaei N3, 4, 5
Authors
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Authors Affiliations
  1. 1. Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Pediatric Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

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.