Partial 2p trisomy (p21 leads to pter) in two siblings of a family with a 2p-:15q+ translocation.
Partial 2p trisomy was diagnosed (by the G-banding method) in two sibs with multiple congenital defects. Their father showed a balanced translocation 46,XY,rcp(2;15)(p21;q26) (so the patients were the result of a paternal adjacent-1 meiotic segregation). The clinical features of the two affected cases are compared with other cases previously reported of partial 2p trisomy in order to individualize the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D008297:Male; D008540:Meiosis; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy