[Translocation (13; 18) (q22; p 11) and prenatal diagnosis (author's transl)].
P Wagenbichler, E Golob, W. Schnedl
Abstract
P Wagenbichler, E Golob, W. Schnedl
Abstract
A balanced translocation (13; 18) (q 22; p 11) was diagnosed in two generations. Out of 10 pregnancies in these two translocation carriers, mother and daughter, only two phenotypically normal childern were born. One of these, namely the daughter, showed balanced translocation, whilst a normal karyotype was diagnosed prenatally in the second case. The other eight pregnancies ended either in spontaneous abortions, in intrauterine death or in lethal malformations. In the present translocation the formation of unbalanced gametes seems to be enhanced.
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A balanced translocation (13; 18) (q 22; p 11) was diagnosed in two generations. Out of 10 pregnancies in these two translocation carriers, mother and daughter, only two phenotypically normal childern were born. One of these, namely the daughter, showed balanced translocation, whilst a normal karyotype was diagnosed prenatally in the second case. The other eight pregnancies ended either in spontaneous abortions, in intrauterine death or in lethal malformations. In the present translocation the formation of unbalanced gametes seems to be enhanced.
Key concepts: Chromosomal translocation, Medicine, Daughter, Karyotype, Prenatal diagnosis, Genetics, Obstetrics, Gynecology