Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations.
In a severe mentally retarded boy with multiple physical malformations cytogenetic analysis by the method of heat Giemsa staining confirmed the long arm deletion of chromosome No. 6--46, XY, del(6) (q2). Cytogenetic finding in parents were normal.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010290:Parents; D014564:Urogenital Abnormalities