Subfertile couple with t(4;22)(q23;q11.2).
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.
Srebniak
Małgorzata
M
Department of Medical Genetics, The Medical University of Silesia, Jednosci 2, 41-208 Sosnowiec, Poland. srebna@poczta.onet.pl
Popowska
Lucyna
L
Wawrzkiewicz-Witkowska
Angelika
A
Tomaszewska
Agnieszka
A
Kazmierczak
Wojciech
W
D000022:Abortion, Spontaneous; D000328:Adult; D002503:Centromere / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic
D006570:Heterochromatin