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

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

doi:10.1002/pd.1250

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

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

Istituto Clinico Humanitas

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	945-948
Number of pages	4
Journal	Prenatal Diagnosis
Volume	25
Issue number	10
DOIs	https://doi.org/10.1002/pd.1250
Publication status	Published - Oct 2005

Keywords

9p deletion
Fluorescence in situ hybridization
Sex reverse

ASJC Scopus subject areas

Genetics(clinical)
Obstetrics and Gynaecology

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10.1002/pd.1250

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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. 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.",

keywords = "9p deletion, Fluorescence in situ hybridization, Sex reverse",

author = "Orsola Privitera and Graziella Vessecchia and Barbara Bernasconi and Daniela Bettio and Sabine Stioui and Giovanna Giordano",

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T1 - Prenatal diagnosis of del(9)(p24)

T2 - A sex reverse case

AU - Privitera, Orsola

AU - Vessecchia, Graziella

AU - Bernasconi, Barbara

AU - Bettio, Daniela

AU - Stioui, Sabine

AU - Giordano, Giovanna

PY - 2005/10

Y1 - 2005/10

N2 - 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.

AB - 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.

KW - 9p deletion

KW - Fluorescence in situ hybridization

KW - Sex reverse

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

Abstract

Keywords

ASJC Scopus subject areas

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