title: Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
abstract: We used whole-genome exon-targeted oligonucleotide array comparative genomic hybridization (array CGH) in a cohort of 256 patients with developmental delay (DD)/intellectual disability (ID) with or without dysmorphic features, additional neurodevelopmental abnormalities, and/or congenital malformations. In 69 patients, we identified 84 non-polymorphic copy-number variants, among which 41 are known to be clinically relevant, including two recently described deletions, 4q21.21q21.22 and 17q24.2. Chromosomal microarray analysis revealed also 15 potentially pathogenic changes, including three rare deletions, 5q35.3, 10q21.3, and 13q12.11. Additionally, we found 28 copy-number variants of unknown clinical significance. Our results further support the notion that copy-number variants significantly contribute to the genetic etiology of DD/ID and emphasize the efficacy of the detection of novel candidate genes for neurodevelopmental disorders by whole-genome array CGH.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Bartnik
authors.forename: Beata
authors.initials: B
authors.lastname: Nowakowska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Derwińska
authors.forename: Barbara
authors.initials: B
authors.lastname: Wiśniowiecka-Kowalnik
authors.forename: Marta
authors.initials: M
authors.lastname: Kędzior
authors.forename: Joanna
authors.initials: J
authors.lastname: Bernaciak
authors.forename: Kamila
authors.initials: K
authors.lastname: Ziemkiewicz
authors.forename: Tomasz
authors.initials: T
authors.lastname: Gambin
authors.forename: Maciej
authors.initials: M
authors.lastname: Sykulski
authors.forename: Natalia
authors.initials: N
authors.lastname: Bezniakow
authors.forename: Lech
authors.initials: L
authors.lastname: Korniszewski
authors.forename: Anna
authors.initials: A
authors.lastname: Kutkowska-Kaźmierczak
authors.forename: Jakub
authors.initials: J
authors.lastname: Klapecki
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.forename: Chad A
authors.initials: CA
authors.lastname: Shaw
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Mazurczak
authors.forename: Anna
authors.initials: A
authors.lastname: Gambin
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
authors.forename: Paweł
authors.initials: P
authors.lastname: Stankiewicz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics*; D005091:Exons; D005260:Female; D018628:Gene Dosage; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011044:Poland; D017384:Sequence Deletion