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Article

Atypical XX male with the <i>SRY</i> gene located at the long arm of chromosome 1 and a 1qter microdeletion

15 Apr 2008

Abstract excerpt

Male individuals with a 46,XX karyotype have been designated as XX males. In 80% of the cases, the presence of Yp sequences, including the male sex-determining gene, SRY, has been demonstrated by molecular and/or fluorescence in situ hybridization (FISH) analyses. In most cases, Yp sequences are located on the short arm of the X chromosome, resulting from unequal recombination between Yp and Xp during paternal...

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Share to Chromosomal and Genetic Variations
Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 18412126
DOI: 10.1002/ajmg.a.32284

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