title: Subfertile couple with inv(2),inv(9) and 16qh+.
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.
authors.affiliation: Department of Perinatology and Gynaecology, Silesian Medical Academy, Plac Traugutta 6, 41-800 Zabrze, Poland. srebna@poczta.onet.pl
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Srebniak
authors.forename: Angelika
authors.initials: A
authors.lastname: Wawrzkiewicz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Wiczkowski
authors.forename: Wojciech
authors.initials: W
authors.lastname: Kaźmierczak
authors.forename: Anita
authors.initials: A
authors.lastname: Olejek
mesh_terms: D000022:Abortion, Spontaneous; D000328:Adult; D002503:Centromere / Q000235:genetics; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D015994:Incidence; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011247:Pregnancy
chemical_list: D006570:Heterochromatin