title: Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
abstract: Several recent reports of interstitial deletions at the terminal end of the short arm of chromosome 3 have helped to define the critical region whose deletion causes 3p deletion syndrome. We report on an 11-year-old girl with intellectual disability, obsessive-compulsive tendencies, hypotonia, and dysmorphic facial features in whom a 684 kb interstitial 3p25.3 deletion was characterized using array-CGH. This deletion overlaps with interstitial 3p25 deletions reported in three recent case reports. These deletions share a 124 kb overlap region including only three RefSeq annotated genes, THUMPD3, SETD5, and LOC440944. The current patient had phenotypic similarities, including intellectual disability, hypotonia, depressed nasal bridge, and long philtrum, with previously reported patients, while she did not have the cardiac defects, seizures ormicrocephaly reported in patients with larger deletions. Therefore, this patient furthers our knowledge of the consequences of 3p deletions, while suggesting genotype-phenotype correlations.
authors.affiliation: South Bay Regional Genetics Center, Santa Clara Valley Medical Center, San Jose, California 95128, USA.
authors.forename: Gregory
authors.initials: G
authors.lastname: Kellogg
authors.forename: John
authors.initials: J
authors.lastname: Sum
authors.forename: Robert
authors.initials: R
authors.lastname: Wallerstein
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D009123:Muscle Hypotonia; D009771:Obsessive-Compulsive Disorder; D010641:Phenotype