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© Research
Publication : Gynécologie, obstétrique & fertilité

[Molecular anomalies of the Y chromosome: Consequences on male fertility]

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Gynécologie, obstétrique & fertilité - 18 Sep 2006

Ravel C, Chantot-Bastaraud S, McElreavey K, Siffroi JP

Link to Pubmed [PMID] – 16979369

Gynecol Obstet Fertil 2006 Oct;34(10):885-93

Molecular anomalies of the Y chromosome leading to male infertility are mainly microdeletions of the long arm of the Y chromosome. Three recurrently deleted portions of the long arm are the AZFa, AZFb and AZFc (AZF: Azoospermia Factor) regions. Complete deletions of the AZFc region are found in 10% of cases of severe male infertility. In addition to the AZF deletions, certain classes of Y chromosome (haplogroups) may also predispose to male infertility and could be transmitted to future male descents by various Assisted Reproductive Techniques (ART). Since the first discovery of microdeletions, the sequence of the Y chromosome has become available, revealing the mechanisms underlying deletion formation and also resulting in a coherent screening strategy. Recently, partial deletions of the AZF regions have been described. The significance of these deletions in the clinical context remains to be defined.

http://www.ncbi.nlm.nih.gov/pubmed/16979369