title: A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
abstract: We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Ingrid
authors.initials: I
authors.lastname: Burgelin
authors.forename: Marianne
authors.initials: M
authors.lastname: Stef
authors.forename: Laurence
authors.initials: L
authors.lastname: Taine
authors.forename: Jean-Benoît
authors.initials: JB
authors.lastname: Thambo
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion