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


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.
Privitera
Orsola
O
AO Ospedale Civile di Legnano, Stabilimento di Legnano, UO Laboratorio Analisi-Sezione di Citogenetica.
Vessecchia
Graziella
G
Bernasconi
Barbara
B
Bettio
Daniela
D
Stioui
Sabine
S
Giordano
Giovanna
G
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D012734:Disorders of Sex Development; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
C110547:DMRT1 protein; C119852:DMRT2 protein, human; D004268:DNA-Binding Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors