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2004 | 45 | 4 | 473-476
Article title

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

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Languages of publication
EN
Abstracts
EN
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.
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Publisher

Year
Volume
45
Issue
4
Pages
473-476
Physical description
Contributors
References
Document Type
SHORT REPORT
Publication order reference
M. Srebniak, Department of Perinatology and Gynaecology, Silesian Medical Academy, Plac Traugutta 6, 41-800 Zabrze, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-5fdb9736-505d-3f90-b533-675bfa525801
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