Parmar R C, Sira P
Consulting Paediatricians, Mumbai, India.
J Postgrad Med. 2003 Apr-Jun;49(2):154-6.
This communication reports prenatal diagnosis of partial trisomy 21 resulting from balanced translocation (21q;22q) in a 36-year-old gravida 7, para 1 woman. The lady had only one living child and there was history of recurrent spontaneous first trimester abortions. Triple test was abnormal in the present conception. In addition, the woman had pericentric inversion of chromosome 9, a finding scarcely reported previously with carrier status in Indian literature. A few cytogeneticists consider this as a normal variant. However, many reports in the recent literature link pericentric inversion of chromosome 9 with infertility, recurrent abortions and a number of other abnormal conditions. A review of the relevant literature pertinent to the case is provided.
本通讯报道了一名36岁、孕7产1的妇女因平衡易位（21q；22q）导致的部分21三体综合征的产前诊断。该女士仅有一个存活子女，并有孕早期反复自然流产史。此次妊娠三联试验结果异常。此外，该妇女存在9号染色体臂间倒位，这一发现此前在印度文献中鲜有携带者状态的报道。一些细胞遗传学家认为这是一种正常变异。然而，近期文献中的许多报道将9号染色体臂间倒位与不孕、反复流产及许多其他异常情况联系起来。本文提供了与该病例相关的文献综述。
