Lin Ying Hui, Chuang Louise, Lin Yung Ming, Lin Ying Hung, Teng Yeng Ni, Kuo Pao Lin
Department of Obstetrics and Gynecology, National Cheng-Kung University Medical College, Tainan, Taiwan.
Fertil Steril. 2005 Mar;83(3):764-6. doi: 10.1016/j.fertnstert.2004.08.026.
To address phenotype/genotype correlation in a man with i(Y)(p10).
Case report.
University-based reproductive genetics laboratory.
PATIENT(S): A 27-year-old azoospermic man with i(Y)(p10), relatively normal stature, and testicular Sertoli-cell-only syndrome.
INTERVENTION(S): Testicular biopsy, cytogenetic study, Y-chromosome deletion mapping analysis, fluorescence in situ hybridization (FISH).
MAIN OUTCOME MEASURE(S): Expression of Y-chromosome genes.
RESULT(S): We have identified one azoospermic man with i(Y)(p10) of 312 Taiwanese men presenting with a severe spermatogenic defect. Y-chromosome deletion mapping analysis confirmed deletions of all Yq sequences, including a putative growth controlling gene. Fluorescence in situ hybridization (FISH) analysis showed duplication of Yp material. The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq.
CONCLUSION(S): Among structural rearrangements of the Y-chromosome, the isochromosome of Yp occurs very rarely. This case is the first reported case of an isochromosome Yp with a detailed description of testicular histology and body height.
探讨一名患有i(Y)(p10)的男性的表型/基因型相关性。
病例报告。
大学附属生殖遗传学实验室。
一名27岁的无精子症男性，患有i(Y)(p10)，身材相对正常，睾丸支持细胞综合征。
睾丸活检、细胞遗传学研究、Y染色体缺失定位分析、荧光原位杂交（FISH）。
Y染色体基因的表达。
在312名表现出严重生精缺陷的台湾男性中，我们鉴定出一名患有i(Y)(p10)的无精子症男性。Y染色体缺失定位分析证实所有Yq序列均缺失，包括一个假定的生长控制基因。荧光原位杂交（FISH）分析显示Yp物质重复。考虑到父母身高的中位数，该患者身材正常。由于Yq中无精子症因子的缺失，他的睾丸组织中也没有生殖细胞（支持细胞综合征）。
在Y染色体的结构重排中，Yp等臂染色体非常罕见。该病例是首例报道的Yp等臂染色体病例，并对睾丸组织学和身高进行了详细描述。
