In 1976, Tiepolo and Zuffardi first recognized the deletions of the long arm of the Y chromosome, large enough to be recognized by light microscopy, in six azoospermic men. Large structural rearrangements of the Y chromosome are known to be commonly associated with a 45,X/46,XY chromosomal mosaicism (Siffroi et al. 2000). Majority of Yq deletions are microdeletions and, therefore, require analysis by molecular means (Martin 2008).
Synonyms and Related Disorders
Chromosome Yq deletion syndrome
Role of Yq deletions in male infertility (Ma et al. 2000)
Factors controlling human spermatogenesis: postulated to be located on the distal portion of the euchromatin segment of the long arm of the Y chromosome, Yq11 (Tiepolo and Zuffardi 1976)
This spermatogenesis locus at Yq11.23, as demonstrated with high-resolution banding techniques, has since come to be known as the “azoospermia factor” or “AZF” (Bühler 1985).
Further molecular investigations into...
KeywordsGenetic Counseling Turner Syndrome Male Infertility Myotonic Dystrophy Testicular Sperm
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