Kim H J, Hsu L Y, Paciuc S, Cristian S, Quintana A, Hirschhorn K
N Engl J Med. 1975 Oct 23;293(17):844-7. doi: 10.1056/NEJM197510232931703.
A consecutive series of 50 couples with a histroy of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirths(s) or both of infants with multiple congenital anomalies. Three women were found to be balanced reciprocal translocation carriers; all translocations were not detectable by the conventional method but were demonstrable by current banding technics. In addition to the translocation carriers, one woman was found to be a mosaic for 45,X/46,XX/47,XXX. Four of the parents showed increased mitotic instability or chromosome breakage and rearrangement, or both. Parental chromosome abnormalities may therefore account for fetal wastage in between 6 and 16 per cent (or about one in 10) of couples having such a history. Such couples, if identified, can potentially benefit by prenatal monitoring of future pregnancies.
采用当前的显带技术，对连续的50对有胎儿丢失史的夫妇进行了细胞遗传学研究。胎儿丢失定义为发生在有超过两次早期流产、死产或活产或两者皆有且伴有多种先天性异常婴儿的夫妇中。发现3名女性为平衡易位携带者；所有易位用传统方法均无法检测到，但用当前的显带技术可证实。除了易位携带者外，还发现1名女性为45,X/46,XX/47,XXX嵌合体。4名父母表现出有丝分裂不稳定性增加或染色体断裂和重排，或两者皆有。因此，在有此类病史的夫妇中，6%至16%（约十分之一）的胎儿丢失可能是由父母染色体异常所致。这类夫妇若能被识别出来，未来怀孕时进行产前监测可能会受益。
