Gonzales J, Lesourd S, Dutrillaux B
Hum Genet. 1981;57(1):111-4. doi: 10.1007/BF00271182.
A balanced reciprocal translocation t(Y;3)(q11.2q12) is detected in an azoospermic male, with a normal phenotype. Replication study shows no modification of the replication pattern of the bands of the rearranged chromosomes. Meiotic studies show a chain element at diakinesis. At the pachytene stage, the Y-body is in external contact with the sex vesicle. It is concluded that the integrity of the Y-chromosome is probably necessary for a normal meiotic process, and is more important than dosage effect due to complete or partial disomy of this chromosome.
在一名表型正常的无精子症男性中检测到一种平衡相互易位t(Y;3)(q11.2q12)。复制研究显示重排染色体带的复制模式没有改变。减数分裂研究显示终变期有一个链状元件。在粗线期,Y小体与性泡外部接触。得出的结论是,Y染色体的完整性可能是正常减数分裂过程所必需的,并且比由于该染色体完全或部分双体性导致的剂量效应更重要。