Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia

  • Arya Sotoudeh Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Pediatric Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Parastoo Rostami Mail Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Pediatric Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Maryam Nakhaeimoghadam Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Pediatric Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Reihaneh Mohsenipour Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Pediatric Endocrinology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Nima Rezaei Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
Keywords:
Pericentric inversion of chromosome 9, Chromosomal structural abnormalities, 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.

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Published
2017-12-02
How to Cite
1.
Sotoudeh A, Rostami P, Nakhaeimoghadam M, Mohsenipour R, Rezaei N. Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia. Acta Med Iran. 55(10):655-657.
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Case Report(s)