title: Prenatal diagnosis of del(9)(p24): a sex reverse case.
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.
  
  
  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.
authors.affiliation: AO Ospedale Civile di Legnano, Stabilimento di Legnano, UO Laboratorio Analisi-Sezione di Citogenetica.
authors.forename: Orsola
authors.initials: O
authors.lastname: Privitera
authors.forename: Graziella
authors.initials: G
authors.lastname: Vessecchia
authors.forename: Barbara
authors.initials: B
authors.lastname: Bernasconi
authors.forename: Daniela
authors.initials: D
authors.lastname: Bettio
authors.forename: Sabine
authors.initials: S
authors.lastname: Stioui
authors.forename: Giovanna
authors.initials: G
authors.lastname: Giordano
mesh_terms: 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
chemical_list: C110547:DMRT1 protein; C119852:DMRT2 protein, human; D004268:DNA-Binding Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors