A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect.
We report a rare chromosomal finding in a boy with a pronounced scalp defect, dysmorphic features and mental retardation. Initially, what seemed to be a normal karyotype by conventional karyotyping was determined to be a de novo deletion involving 15(q15.2q21.2) by high resolution banding. Consequently, prometaphase analysis is warranted in some cases when conventional karyotype analysis appears normal.
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D019066:Facies; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012535:Scalp / Q000002:abnormalities*