Karyotyping and Counseling in Bad Obstetric History and Infertility

Background: division of human genetics (dho) is a referral center for karyotyping andcounseling to the couples as well as to the individuals referred with bad obstetric history andinfertility.materials and methods: from 1972 to 2003, overall 1666 couples and 131 female partnerswith bad obstetric history (boh) such as; spontaneous abortions, live births with congenitalmalformations and still born and 73 infertile male partners have been referred forchromosomal analysis.results: the chromosomal abnormality was found in 4.40/0 (83) of the sample studied.chromosomal abnormality was seen in 56 couples (3.4%), 15 female (11.5%) and 12 male(16.4%) partners. the numerical chronl0somal abnormality were seen in 34 (41%) and thestructural abnormalities in 49 (59%) cases. the numerical chromosomal abnormalities wereassociated with sex chromosomes as follows (the number of cases are shown in parenthesis):47, xxv (9); 46, xy/ 47, xxv (2); 46, xy/ 48, xxxv (1); 46, xy/ 47, xyy (2) and xmosaicism; 45, xi 46, xx (14); 46, xxi 47, xxx (6). the structural anomalies were 40translocations and 9 duplication/ deletionl marker/ iso chromosome for the x chromosome;male: 46,xy/ 47,xy+ mar (1); fenlale: 45,x/ 47,xx+mar (1); 46,xx/ 47,xx+mar (1);47,xx+frag (1); 46,x,xq- (2); 46,x,xp- (1); 46,x,xp+ (1); 45,x/46,x,i(xq)(i). thefrequently involved chromosomes in the translocations were 4, 11, 15 and x. there werethree x; autosomal translocations and a unique combination of translocation 1; 15 in theparents of a female carrier and 13; 14 in a non- consanguineous couple. on the whole, 57.5%of the females (231 40) were translocation carriers. non-significant chromosomepolymorphisms were observed in 79 cases (4.2%).conclusion: the current study has demonstrated the presence of the chromosomalabnormality and its influence in reproductive failure. on an average, in this study one in 56couple and one in 12 males with infertility or one in 15 females with boh has had achromosomal abnormality as the genetic cause. the identification of chromosomalabnormality as the etiology has facilitated the counseling and appropriate management.