[Translocation t (13:21) (q22:q22) in mother and monosomia 21 and partial trisomy 13 on her son (author's transl)].
Clinical and cytogenetical findings in a case of 21pter leads to 21q22.1 monosomy associated to a partial trisomy 13 are presented. The patient's mother carries a translocation t(13;21) (q22;q22). R-banding has shown that q22 band of an apparently absent chromosome 21 is distally translocated in an extra-chromosome 13 (13q-)+. Therefore the proband's monosomy 21 is not complete, but partial.
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D014314:Trisomy
Translocación t(13q-; 21q+) en la madre. Trisomía 13 y monosomía 21 parciales en el hijo.