Chromosomes in familial primary sterility and in couples with recurrent abortions and stillbirths

This investigation included 12 families with two or more members (males and/or females) with primary sterility of undetermined etiology ('familial sterility' group) and 21 couples with a history of at least two spontaneous abortions and/or stillbirths ('poor obstetric history' group). The 'familial sterility' group consisted of 22 men with oligospermia or azoospermia and four infertile women. In the 'familial sterility' group, no gross structural or numerical abnormalities were observed; however, chromosomal variants were seen in 10 individuals (38.4%). These changes consisted of single cases of enlarged secondary constriction in chromosomes no. 1 and 9 and enlarged satellites on chromosome no.15. Yq+ was observed in five men and Yq- in two. The 'poor obstetric history' group included two men with numerical chromosomal aberrations (4.5%). One possessed a 13/14 Robertsonian translocation while the other manifested a 50% mosaicism of 46,XY/47,XY,+ fragment. This very small, centric fragment, unidentifiable by banding, was often found in association with the acrocentric chromosomes, which indicates its possible origin in the D or G groups. Twelve patients (28.5%) in this second group had minor variants. Two women had more than one variant; one with both 1qh+ and 21s+ and another with 16qh+, 14s+ and 15s+.