对三名等臂Y染色体患者的分子研究。

Molecular studies in three patients with isodicentric Y chromosome.

作者信息

Stuppia L, Calabrese G, Franchi P G, Mingarelli R, Morizio E, Sabatino G, Palka G

机构信息

Istituto di Citomorfologia Normale e Patologica del CNR, Chieti, Italy.

出版信息

Hum Genet. 1996 Dec;98(6):691-5. doi: 10.1007/s004390050286.

DOI:10.1007/s004390050286

Abstract

Three patients carrying an isodicentric (idic) Y chromosome associated with a mosaic 45,X cell line were studied using molecular techniques. Genotype-phenotype correlations suggested an effect of the 45,X cell line on sexual differentiation. A relationship was established between instability of the idic(Y) chromosome and localization of the breakpoint on Yq, and between azoospermia and deletion of interval 6 on Yq.

摘要

对三名携带与45,X嵌合细胞系相关的等臂（idic）Y染色体的患者采用分子技术进行了研究。基因型-表型相关性提示45,X细胞系对性分化有影响。在idic（Y）染色体的不稳定性与Yq上断点的定位之间，以及无精子症与Yq上6号区间的缺失之间建立了联系。

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