受精ジャーナル:体外受精 - 体外受精 - 世界中、生殖医学、遺伝学、幹細胞生物学
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概要

A Rare Inherited Reciprocal Translocation Found in Two Male Infertile Siblings

Marwan Alhalabi, Basem Jaber, Bilal Al-Baroudi and Ghalia Abou Alchamat

During our genetic research to find an association between genetic defects and idiopathic male infertility, we found amongst 200 patients studied, a rare balanced reciprocal translocation between the short arm of chromosome X (p22.2) and the long arm of chromosome 9 (q31) in two infertile brothers. Our finding was confirmed by Fluorescence in Situ Hybridization (FISH). Microdeletion of the long arm of the Y chromosome was done for both brothers, and no microdeletion was found. A conventional cytogenetic study was done to their mother, revealed the existence of the same translocation, indicating that the translocation found in both brothers is inherited totally from the mother. These findings show clearly the important role of X-autosome translocation in causing Azoospermia and male infertility in male carriers.