正常新生儿及其父母以及智障儿童中的3号染色体变异（inv3）

Variant chromosome 3 (inv3) in normal newborns and their parents, and in children with mental retardation.

作者信息

Mikelsaar A V, Ilus T, Kivi S

出版信息

Hum Genet. 1978 Feb 23;41(1):109-13. doi: 10.1007/BF00278877.

Abstract

The chromosomes of 102 normal newborn babies (51 boys and 51 girls) born at term, their parents, and 45 nonrelated children with mental retardation at the level of imbecility were investigated by fluorescence microscopy using propyl quinacrine mustard. In each of the 11 families, one of the parents had a variant chromosome 3 that was interpreted as resulting from a pericentric inversion of the brilliant band (or C band) only (inv3). In four cases inv3 was transmitted to the child. The frequency of inv3 in newborn boys and girls was 2 and 6% respectively, and in adult men and women 5 and 6% respectively. In children with mental retardation of unknown etiology the inv3 was detected in five cases (11.1%). This difference from normal persons was not significant.

摘要

使用丙基喹吖因氮芥通过荧光显微镜对102名足月出生的正常新生儿（51名男婴和51名女婴）、他们的父母以及45名智力发育迟缓程度为低能的非亲属儿童的染色体进行了研究。在11个家庭中，每个家庭都有一位家长拥有一条变异的3号染色体，该染色体被解释为仅由亮带（或C带）的臂间倒位（inv3）导致。在4个案例中，inv3被遗传给了孩子。inv3在新生儿男孩和女孩中的频率分别为2%和6%，在成年男性和女性中分别为5%和6%。在病因不明的智力发育迟缓儿童中，有5例（11.1%）检测到inv3。与正常人的这种差异不显著。