title: Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.
abstract: Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Copy number studies led to an explosion of the discoveries of new segmental duplication-mediated deletions and duplications. These rearrangements are mostly the result of non-allelic homologous recombination (NAHR) between low-copy repeats or segmental duplications. We have identified an individual with a small, rare deletion on chromosome 2q21.1 with psychomotor delay, hyperactivity, and aggressive behavior. The rearranged region is flanked by large complex low-copy repeats and includes only five genes: GPR148, FAM123C (AMER3), ARHGEF4, FAM168B, and PLEKHB2. The comparison between our patient and the cases previously reported in the literature contributes to a better definition of genotype-phenotype correlation of 2q21.1 microdeletions.
authors.affiliation: Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
authors.forename: Stefania
authors.initials: S
authors.lastname: Gimelli
authors.forename: Elisavet
authors.initials: E
authors.lastname: Stathaki
authors.forename: Frédérique
authors.initials: F
authors.lastname: Béna
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Leoni
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype
keywords: 2q21.1 microdeletion; ARHGEF4; GPR148; NAHR; aggression; comparative genomic hybridization; hyperactivity; psychomotor delay