Richards B W, Stewart A
Hum Genet. 1978 Dec 29;45(3):331-8. doi: 10.1007/BF00278731.
An adult male of short stature and with underdeveloped external genitalia is described, who carried out a number of sexual assaults on young women. He proved to have XO/XY mosaicism and a non-fluorescing Y chromosome. It was considered to be a terminal deletion on morphological grounds. It is suggested, on the evidence of the small number of XO/XY mosaics examined by appropriate staining methods, that an abnormal Y chromosome, whether terminally deleted or non-fluorescing owing to an altered chemical state, predisposes to anaphase lagging and non-disjunction. Of eleven reported cases of XO/XY mosaicism with a non-fluorescing Y chromosome, this is the fifth of male phenotype. The severe behaviour disturbance of early onset is considered to be probably causally associated with the chromosome anomaly.
本文描述了一名身材矮小、外生殖器发育不全的成年男性,他对年轻女性实施了多次性侵犯。经证实,他具有XO/XY嵌合体以及一条无荧光的Y染色体。基于形态学原因,该Y染色体被认为存在末端缺失。根据通过适当染色方法检测的少量XO/XY嵌合体的证据表明,异常的Y染色体,无论是末端缺失还是由于化学状态改变而无荧光,都易导致后期落后和不分离。在已报道的11例具有无荧光Y染色体的XO/XY嵌合体病例中,这是第五例男性表型。早期出现的严重行为障碍被认为可能与染色体异常存在因果关系。