title: A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
abstract: We evaluated a patient with mild intellectual disability, obesity, overgrowth, and dysmorphic features. Array comparative genomic hybridization (aCGH) analysis showed a single copy number increase of a BAC clone in the 11p15.4 region. Oligonucleotide aCGH refined the duplication to approximately 2.29  megabases (Mb) in size. Testing the parents revealed that the father, who had learning disabilities and overgrowth, also had the 11p15.4 duplication, and the mother had a normal microarray. In addition, the patient's brother and grandmother all share clinical features with the proband and tested positive for the duplication. The duplicated region (Chr11:6,934,067-9,220,605) encompasses 29 genes, including the ZNF214 gene, which has been postulated to play a role in Beckwith-Wiedemann syndrome [Alders et al., 2000]. This three-generation pedigree outlines features of a novel microduplication syndrome.
authors: Alpert Medical School of Brown University, Providence, Rhode Island, USA.
authors: Elvera
authors: E
authors: Sofos
authors: Matthew F
authors: MF
authors: Pescosolido
authors: Jose B
authors: JB
authors: Quintos
authors: Dianne
authors: D
authors: Abuelo
authors: Shelly
authors: S
authors: Gunn
authors: Karine
authors: K
authors: Hovanes
authors: Eric M
authors: EM
authors: Morrow
authors: Natasha
authors: N
authors: Shur
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D058674:Chromosome Duplication; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003001:Cloning, Molecular; D055028:Comparative Genomic Hybridization; D004268:DNA-Binding Proteins / Q000235:genetics*; D023281:Genomics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009765:Obesity / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype
chemical_list: D004268:DNA-Binding Proteins; C409745:ZNF214 protein, human