title: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
abstract: We have identified a recurrent de novo pericentromeric deletion in 16p11.2-p12.2 in four individuals with developmental disabilities by microarray-based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2-p12.2 constitute a previously undescribed syndrome.
authors: Signature Genomic Laboratories, Spokane, Washington 99202, USA.
authors: Blake C
authors: BC
authors: Ballif
authors: Sara A
authors: SA
authors: Hornor
authors: Elizabeth
authors: E
authors: Jenkins
authors: Suneeta
authors: S
authors: Madan-Khetarpal
authors: Urvashi
authors: U
authors: Surti
authors: Kelly E
authors: KE
authors: Jackson
authors: Alexander
authors: A
authors: Asamoah
authors: Pamela L
authors: PL
authors: Brock
authors: Gordon C
authors: GC
authors: Gowans
authors: Robert L
authors: RL
authors: Conway
authors: John M
authors: JM
authors: Graham
authors: Livija
authors: L
authors: Medne
authors: Elaine H
authors: EH
authors: Zackai
authors: Tamim H
authors: TH
authors: Shaikh
authors: Joel
authors: J
authors: Geoghegan
authors: Rebecca R
authors: RR
authors: Selzer
authors: Peggy S
authors: PS
authors: Eis
authors: Bassem A
authors: BA
authors: Bejjani
authors: Lisa G
authors: LG
authors: Shaffer
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization / Q000379:methods; D013577:Syndrome