Schempp W, Weber B, Serra A, Neri G, Gal A, Wolf U
Hum Genet. 1985;71(2):150-4. doi: 10.1007/BF00283372.
A 19-year-old male with azoospermia was found to have a 45,X karyotype with additional euchromatic material on 15p. The parents' karyotypes are normal. The cytogenetic data, the positive H-Y-typing, and the presence of Yp-specific restriction fragments detected in the proband's genome by molecular DNA probes suggest that the short arm of the Y chromosome, including part of the centromere, is translocated onto the nucleolus organizer region (NOR) of chromosome 15.
一名19岁无精子症男性被发现核型为45,X,15号染色体短臂上有额外的常染色质物质。其父母核型正常。细胞遗传学数据、H-Y分型阳性以及分子DNA探针在该先证者基因组中检测到Yp特异性限制性片段,提示Y染色体短臂,包括部分着丝粒,易位到了15号染色体的核仁组织区(NOR)。