Tuerlings J H, Kremer J A, Meuleman E J
Afd. Antropogenetica, Academisch Ziekenhuis, Nijmegen.
Ned Tijdschr Geneeskd. 1997 Jun 7;141(23):1129-33.
Four men aged 38, 31, 27 and 35 years were examined because of infertility. The first three had idiopathic oligozoospermia, the other bilateral ductus deferens agenesis. They were referred for intracytoplasmic sperm injection (ICSI). Clinical genetic investigation including thorough family history, chromosome investigation and molecular DNA investigation revealed that one patient had mosaicism for Klinefelter syndrome (46,XY/47,XXY), the second a familial balanced translocation (46,XY,t(4;16)) and the third a microdeletion in the AZFc region of the Y chromosome, while the fourth was homozygous for a cystic fibrosis mutation. In view of new fertilisation techniques such as ICSI, clinical genetic investigation is of great importance. It is not known whether these new techniques facilitate transmission of genetic disorders. Long-term follow-up of children conceived by ICSI is required.
四名年龄分别为38岁、31岁、27岁和35岁的男性因不育接受检查。前三人患有特发性少精子症，另一人双侧输精管缺如。他们被转诊接受卵胞浆内单精子注射（ICSI）。临床遗传学调查包括详尽的家族史、染色体检查和分子DNA检查，结果显示一名患者为克氏综合征嵌合体（46,XY/47,XXY），第二名患者为家族性平衡易位（46,XY,t(4;16)），第三名患者Y染色体AZFc区域存在微缺失，而第四名患者为囊性纤维化突变纯合子。鉴于诸如ICSI等新的受精技术，临床遗传学调查非常重要。尚不清楚这些新技术是否会促进遗传疾病的传播。需要对通过ICSI受孕的儿童进行长期随访。
