Juberg R C
Hum Genet. 1983;64(2):122-7. doi: 10.1007/BF00327106.
This study ascertained 35 aneuploid patients, of which 34 had trisomy 21 and one had trisomy 18. Their parents were matched by age at the conception with parents of 35 euploid patients with congenital defects. Interviews with the couples focused on exposures and activities at the time of the conception. No parents had infectious hepatitis preceding the conception, and one study mother and four comparison parents reported drug ingestion. Eight parents in the study group and two in the comparison reported radiation exposure. One family in each group had a history of thyroid disorder. The groups differed mainly in their sexual histories; circumstances favoring the possibility of delayed fertilization (contraceptive failure, infrequency of intercourse, or premarital conception) existed in 22 of the study group but in only seven of the comparison group.
本研究确定了35例非整倍体患者,其中34例为21三体,1例为18三体。他们的父母在受孕时的年龄与35例患有先天性缺陷的整倍体患者的父母相匹配。对这些夫妇的访谈集中在受孕时的接触情况和活动。没有父母在受孕前患有传染性肝炎,1名研究对象的母亲和4名对照对象的父母报告有药物摄入情况。研究组中有8名父母和对照组中有2名父母报告有辐射暴露。每组各有1个家庭有甲状腺疾病史。两组的主要差异在于性史;有利于延迟受精可能性的情况(避孕失败、性交频率低或婚前受孕)在研究组中有22例,但对照组中只有7例。