Journal of Applied Genetics 45(4), 2004, pp. 477-479

Subfertile couple with inv(2),inv(9) and 16qh+

Malgorzata Srebniak, Angelika Wawrzkiewicz, Andrzej Wiczkowski, Wojciech Kazmierczak, Anita Olejek

Abstract: This case report presents two chromosomal inversions in one of partners from a subfertile couple. The woman was referred due to a spontaneous abortion in the 5th week of pregnancy. Cytogenetic examination showed that the proband's karyotype was normal: 46,XX,16qh+, as centromeric heterochromatin is thought to be clinically insignificant. However, the proband's partner occurred to be a carrier of two pericentric inversions. His karyotype was 46,XY,inv(2)(p11q13),inv(9)(p11q13). The abnormal karyotype is recognised as a possible reason of fertility problems in the investigated couple. The risk of further miscarriages is considered high, but the risk of progeny with abnormal karyotypes is rather low, as small inversions may lead to lethal recombinants.

Key words: inv(2), inv(9), miscarriage, pericentric inversion.

Correspondence: M. Srebniak, Department of Perinatology and Gynaecology, Silesian Medical Academy, Plac Traugutta 6, 41-800 Zabrze, Poland; e-mail: srebna@poczta.onet.pl