title: Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.
abstract: A familial t(X;2) (p223;q323) is responsible for partial trisomy 2q in the proposita, a 3-year-old girl with severe mental retardation and hypotrophia. It is present in the balanced state in the mother, two daughters, and one son. X-replication was studied after BUDR incroporation and acridine orange staining. The reproductive impairment of balanced X/autosome translocations is discussed.
mesh_terms: D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014314:Trisomy