Mental retardation and congenital malformations associated with a ring chromosome 6.
A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D005149:Facial Expression; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male