Srebniak Malgorzata, Wawrzkiewicz Angelika, Wiczkowski Andrzej, Kaźmierczak Wojciech, Olejek Anita
Department of Perinatology and Gynaecology, Silesian Medical Academy, Plac Traugutta 6, 41-800 Zabrze, Poland.
J Appl Genet. 2004;45(4):477-9.
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.
本病例报告呈现了一对生育力低下夫妇中一方的两个染色体倒位情况。该名女性因妊娠第5周自然流产前来就诊。细胞遗传学检查显示，先证者的核型正常：46,XX,16qh+，因为着丝粒异染色质被认为在临床上无显著意义。然而，先证者的伴侣是两个臂间倒位的携带者。他的核型为46,XY,inv(2)(p11q13),inv(9)(p11q13)。这种异常核型被认为是所研究夫妇生育问题的一个可能原因。进一步流产的风险被认为很高，但核型异常后代的风险相当低，因为小的倒位可能会导致致死性重组。
