Chandley A C, Hargreave T B, Fletcher J M
J Med Genet. 1982 Oct;19(5):366-9. doi: 10.1136/jmg.19.5.366.
Details are given of a balanced 21q22q Robertsonian translocation ascertained through infertility in a phenotypically normal male. Chromosome analyses on the proband and his parents showed that the translocation arose as a new mutation. The patient was oligospermic and had a high frequency of morphological abnormalities in his spermatozoa. Meiotic investigations showed a chain trivalent in all primary spermatocytes examined at diakinesis/metaphase I. The testicular histology was normal.
本文详细介绍了通过一名表型正常男性的不育症确诊的一种平衡的21q22q罗伯逊易位。对先证者及其父母的染色体分析表明，该易位是作为一种新的突变出现的。患者为少精子症，其精子形态异常的频率较高。减数分裂研究显示，在终变期/中期I检查的所有初级精母细胞中均存在一个链式三价体。睾丸组织学正常。
