Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

• Published in: American journal of medical genetics. Part A Vol. 139A; no. 3; pp. 173 - 185
• Main Authors: Tyson, C., Harvard, C., Locker, R., Friedman, J.M., Langlois, S., Lewis, M.E.S., Van Allen, M., Somerville, M., Arbour, L., Clarke, L., McGilivray, B., Yong, S.L., Siegel-Bartel, J., Rajcan-Separovic, E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.12.2005
• Subjects: 11q12.3-13.1; 7q36.3; array CGH; Chromosome Aberrations; Chromosome Disorders - genetics; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 7 - genetics; Chromosomes, Human, X - genetics; de novo microdeletion and microduplication; DNA Primers; Female; Humans; In Situ Hybridization, Fluorescence; intellectual disability; Intellectual Disability - genetics; Male; Microsatellite Repeats - genetics; Nucleic Acid Hybridization - genetics; Oligonucleotide Array Sequence Analysis - methods; Pedigree; Polymerase Chain Reaction; Xp22.3

Intellectual disability (ID) affects about 3% of the population (IQ < 70), and in about 40% of moderate (IQ 35–49) to severe ID (IQ < 34), and 70% of cases of mild ID (IQ 50–70), the etiology of the disease remains unknown. It has long been suspected that chromosomal gains and losses undetecta...