We investigated the presence of Y-material in the genome of an azoospermic male with 46,XX karyotype through polymerase chain reaction (PCR) and fluorescent ″in situ″ hybridization (FISH) of the SRY gene, which was shown to be in fact present. FISH demonstrated that SRY was transposed onto the short arms of one of the X chromosomes. The presence of both X and Y boundary regions, as detected by PCR, confirmed the origin of this XX male from an abnormal X/Y interchange during paternal meiosis.

Origin of XX males: molecular and cytogenetic investigations

AMBROSINI, GUIDO;
1999

Abstract

We investigated the presence of Y-material in the genome of an azoospermic male with 46,XX karyotype through polymerase chain reaction (PCR) and fluorescent ″in situ″ hybridization (FISH) of the SRY gene, which was shown to be in fact present. FISH demonstrated that SRY was transposed onto the short arms of one of the X chromosomes. The presence of both X and Y boundary regions, as detected by PCR, confirmed the origin of this XX male from an abnormal X/Y interchange during paternal meiosis.
1999
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11577/2519121
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