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

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Srebniak M., Wawrzkiewicz A., Wiczkowski A., Kazmierczak W., Olejek A.

Journal of Applied Genetics

2004

vol. 45

issue 4

473-476

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.

Subfertile couple with t(4;22)(q23;q11.2)

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Srebniak M., Popowska L., Wawrzkiewicz-Witkowska A., Tomaszewska A., Kazmierczak W.

Journal of Applied Genetics

2005

vol. 46

issue 3

333-336

A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal translocation and her partner's karyotype was found to be normal. The karyotype of the proband is 46,XX,t(4;22)(q23;q11.2) and can be regarded as a reason of fertility problems in the investigated couple. The risk of further miscarriages is high, but the risk of a progeny with abnormal karyotype is rather low, as the progeny would probably have lethal imbalances.

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2 Journal of Applied Genetics

1 2005

1 2004

2 Kazmierczak W.

2 Srebniak M.

1 Olejek A.

1 Popowska L.

1 Tomaszewska A.

1 Wawrzkiewicz A.

1 Wawrzkiewicz-Witkowska A.

1 Wiczkowski A.

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

Subfertile couple with t(4;22)(q23;q11.2)