A new cause of ambiguous genitalia: Multiple malformation syndrome related to an unbalanced translocation [46,XY t(7;16)]

L. Pavone, A. le Pira, M. Caruso, P. Pavone, O. Palumbo, M. Carella, T. Mattina

Research output: Contribution to journalArticle

Abstract

We report the case of a three years old male child who showed ambiguous genitalia in a setting of multiple malformations. Disorders of sex development (DSD) are due to many different causes, such as chromosome abnormalities, or alterations in transcription factors, receptors, and hormones implicated in sexual differentiation during fetal life. Here we describe a case of partial deletion 7q ter associated with partial trisomy 16p as a new chromosome anomaly associated with ambiguous genitalia. We have attempted to analyse the individual contributions of chromosomes 7 and 16 in the pathogenesis of the sex malformation in our patient.

Original languageEnglish
JournalInternet Journal of Pediatrics and Neonatology
Volume12
Issue number2
Publication statusPublished - 2010

Keywords

  • Ambiguous genitalia
  • Chromosome 16
  • Chromosome 7
  • Unbalanced translocation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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