[Translocation (13; 18) (q22; p 11) and prenatal diagnosis (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic
Translokation (13; 18) (q 22; p 11) und pränatale Diagnose