Schmidtke J, Arnemann J, Schmid M, Baum F, Mayerova A, Langenbeck U, Hansmann I
Hum Genet. 1985;69(2):135-7. doi: 10.1007/BF00293283.
We describe clinical features and laboratory findings in a physically and mentally retarded male with underdeveloped testes, a seemingly monocentric isochromosome of Yq but the presence of a Yp-specific DNA sequence at a single dose of unknown genomic localisation, and the presence of H-Y antigen at normal male titer. Our data contribute to the fine mapping of the human Y chromosome by correlating phenotypic features with results from karyotypic, immunologic, and molecular hybridisation analyses.
我们描述了一名身体和智力发育迟缓男性的临床特征及实验室检查结果，该男性睾丸发育不全，存在一条看似单中心的Yq等臂染色体，但Yp特异性DNA序列以单剂量存在，其基因组定位未知，且H-Y抗原水平处于正常男性滴度。我们的数据通过将表型特征与核型、免疫学及分子杂交分析结果相关联，有助于人类Y染色体的精细定位。
