Partial trisomy 12q associated with a familial translocation.
A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy