Rao Lakshmi, Murthy Kanakavalli, Babu Arvind, Venkata Padmalatha, Deenadayal Mamata, Singh Lalji
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, 500 007, India.
Arch Gynecol Obstet. 2005 Oct;272(4):273-7. doi: 10.1007/s00404-005-0027-9. Epub 2005 Oct 13.
The aim of the present study was to investigate the contribution of chromosomal abnormalities and the frequency of a particular type of aberration in couples of South Indian origin with recurrent miscarriages. A total of 160 couples with recurrent miscarriages were analyzed using Giemsa-Trypsin-Giemsa (GTG) banding and Fluorescence in situ hybridization (FISH) wherever necessary. Chromosomal abnormalities were detected in 18 individuals representing 11.25% of the samples analyzed. Present study describes majority of the cases with chromosome inversions found to be common among the referred couples. Among the abnormal karyotypes, we report for the first time an unique case of chromosome insertion in a woman with the karyotype 46,XX,ins(12;6)(q24.2;q23q25) associated with recurrent miscarriages. The overall incidence of abnormalities and the predominance of chromosome inversions indicates to physicians that routine chromosome analysis of infertile couples of South Indian origin should be essentially considered before the planning of Intra Cytoplasmic Sperm Injection (ICSI), and also the priorities for cytogenetic screening in individual cases should be established.
本研究的目的是调查染色体异常的影响以及在南印度裔反复流产夫妇中某一特定类型畸变的发生频率。对总共160对反复流产的夫妇进行了吉姆萨 - 胰蛋白酶 - 吉姆萨（GTG）显带分析，并在必要时使用荧光原位杂交（FISH）技术。在所分析的样本中，18名个体检测到染色体异常，占比11.25%。本研究描述了在转诊夫妇中发现的大多数染色体倒位病例。在异常核型中，我们首次报告了一例核型为46,XX,ins(12;6)(q24.2;q23q25)的女性染色体插入的独特病例，该女性伴有反复流产。异常的总体发生率和染色体倒位的优势向医生表明，在计划进行胞浆内单精子注射（ICSI）之前，应切实考虑对南印度裔不育夫妇进行常规染色体分析，并且还应确定个别病例细胞遗传学筛查的优先级。
