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.

PRENATAL DIAGNOSIS OF del(9)(p24): A SEX REVERSE CASE / Privitera, O; Vessecchia, G; Bernasconi, B; Bettio, D; Stioui, S; Giordano, Giovanna. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - 25:10(2005), pp. 945-948. [10.1002/pd.1250]

PRENATAL DIAGNOSIS OF del(9)(p24): A SEX REVERSE CASE

GIORDANO, Giovanna
2005-01-01

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.
PRENATAL DIAGNOSIS OF del(9)(p24): A SEX REVERSE CASE / Privitera, O; Vessecchia, G; Bernasconi, B; Bettio, D; Stioui, S; Giordano, Giovanna. - In: PRENATAL DIAGNOSIS. - ISSN 0197-3851. - 25:10(2005), pp. 945-948. [10.1002/pd.1250]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/1445274
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