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Journal of Applied Genetics 46(3), 2005, pp. 333-336

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

Malgorzata Srebniak, Lucyna Popowska, Angelika Wawrzkiewicz-Witkowska, Agnieszka Tomaszewska, Wojciech Kazmierczak

Abstract: 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.

Key words: t(4;22), infertility, miscarriage, translocation.

Correspondence: M. Srebniak, Department of Medical Genetics, The Medical University of Silesia, ul. Jednosci 2, 41-208 Sosnowiec, Poland, e-mail:

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