Brisset S, Izard V, Misrahi M, Aboura A, Madoux S, Ferlicot S, Schoevaert D, Soufir J C, Frydman R, Tachdjian G
Service de Génétique et Reproduction and Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, 92140 Clamart, France.
Hum Reprod. 2005 Aug;20(8):2168-72. doi: 10.1093/humrep/dei034. Epub 2005 Apr 21.
(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.
(Y;常染色体)易位已被报道与男性不育有关。人们提出了不同的机制来解释男性不育，比如Y染色体长臂上无精子因子(AZF)的缺失，或减数分裂受损。我们描述了一例新发的不平衡易位t(Y;22)的病例，并讨论基因型与表型的相关性。一名36岁无精子症男性被发现具有45,X/46,X, +mar嵌合核型。荧光原位杂交(FISH)显示存在一条衍生Y染色体，其包含Y染色体的短臂、着丝粒以及长臂常染色质的一小部分近端区域和22号染色体的长臂。这条不稳定的小标记染色体包含22号染色体的短臂和着丝粒。这种不平衡易位t(Y;22)(q11.2;q11.1)导致Y染色体长臂缺失，累及大部分AZFb、AZFc和Yq异染色质区域。睾丸组织分析显示湿片中有精子。我们的病例表明通过分子和睾丸组织分析记录(Y;常染色体)易位的重要性。
