[Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)].
A translocation affecting chromosomes 8 and 12 was detected in 11 persons of 3 generations of a family. The propositus, a child with multiple malformations, had a mosaicism consisting of (a) cells with 46 chromosomes which included the balanced translocation and (b) cells with 47 chromosomes and partially trisomic for chromosomes 8 and 12.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009030:Mosaicism; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle 12 et 8 en mosaïque, avec translocation t(8;12) (p21;q13).