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Prenatal diagnosis of del(9)(p24): a sex reverse case
Author(s) -
Privitera Orsola,
Vessecchia Graziella,
Bernasconi Barbara,
Bettio Daniela,
Stioui Sabine,
Giordano Giovanna
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1250
Subject(s) - testis determining factor , fetus , chromosomal translocation , prenatal diagnosis , karyotype , fish <actinopterygii> , sex reversal , biology , y chromosome , disorders of sex development , fluorescence in situ hybridization , genetics , gene , chromosome , pregnancy , fishery
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. Copyright © 2005 John Wiley & Sons, Ltd.