Abstract
It has been shown that both numerical and structural chromosome aberrations are significant etiologic factors in fetal wastage. The estimated frequency of finding a balanced structural aberration in couples with fetal wastage is 1 in 26. Since 1968, we have studied a total of 123 parents including 56 couples and 11 single parents with history of two or more spontaneous abortions, still birth(s) and/or live born(s) with multiple anomalies. 53 parents (24 couples and 5 single parents) studied with the conventional method, yielded two mothers with 45,X/46,XX/47,XXX mosaicism and one couple with abnormal chromosomes in both (mother-46,XX,inv 3(p-q+); father-46,XY/47,XY,+D). Since the introduction of the current banding techniques, 70 parents (32 couples and 6 single parents) were studied. In this group, two mothers were found to have a reciprocal translocation which was not detectable by conventional karyotyping (1 mother-46,XX,t(17;19)(q23;p!3); 1 mother-46,XX,t(4;ll)(q25;q13)); 1 mother was mosaic for 45,X/46,XX/47,XXX; 3 fathers had an increased frequency of chromosome breaks and 1 father showed mitotic instability. Recently, we studied a couple with infertility and found a balanced translocation, 45,XX,t(14q;22q) in the wife. Couples with fetal wastage, subfertility or infertility must be studied with the new banding techniques. This will provide more accurate genetic counselling and guide prenatal monitoring by prenatal diagnosis.
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Kim, H., Hsu, L. & Hirschhorn, K. CYTOGENETIC STUDIES OF COUPLES WITH FETAL WASTAGE: CONVENTIONAL VERSUS BANDING TECHNIQUES. Pediatr Res 8, 390 (1974). https://doi.org/10.1203/00006450-197404000-00301
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DOI: https://doi.org/10.1203/00006450-197404000-00301