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Updated: Aug 16, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Prenatal diagnosis of del(9)(p24): a sex reverse case
Orsola Privitera1, Graziella Vessecchia, Barbara Bernasconi
1AO Ospedale Civile di Legnano, Stabilimento di Legnano, UO Laboratorio Analisi-Sezione di Citogenetica.
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.
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