Prenatal diagnosis of del(9)(p24): A sex reverse case

Orsola Privitera, Graziella Vessecchia, Barbara Bernasconi, Daniela Bettio, Sabine Stioui, Giovanna Giordano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: We report on a fetus with sex reversal and del(9)(p24) consequent to a malsegregation of a maternal balanced complex translocation involving chromosomes 7, 9 and 11. Methods: Fluorescence in situ hybridization (FISH) was performed in order to verify the presence of the SRY gene and the absence of DMRT1 and DMRT2 genes located in 9p24.3 region and frequently associated with sex reversal. Results and Conclusions: The prenatal karyotype revealed an unbalanced male fetus. The postmortem examination showed a malformed fetus with female external genitalia. Lack of DMRT1-2 genes established by FISH.

Original languageEnglish
Pages (from-to)945-948
Number of pages4
JournalPrenatal Diagnosis
Volume25
Issue number10
DOIs
Publication statusPublished - Oct 2005

Keywords

  • 9p deletion
  • Fluorescence in situ hybridization
  • Sex reverse

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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