A case of 22-trisomy mosaic.
An extra small acrocentric chromosome was found in 50% of the cultured blood cells of a somato-mentally retarded girl with congenital heart failure and different dysmorphic symptoms. The supernumerary chromosome proved to be chromosome No. 22.
D000015:Abnormalities, Multiple; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D014314:Trisomy