Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization

• Published in: Clinical genetics 2007-11, Vol.72 (5), p.411-419
• Main Authors: Brunetti-Pierri, N, Grange, DK, Ou, Z, Peiffer, DA, Peacock, SKG, Cooper, ML, Eng, PA, Lalani, SR, Chinault, AC, Gunderson, KL, Craigen, WJ, Cheung, S-W
• Format: Article
• Language: English
• Subjects: 17q11.2q12; array CGH; Biological and medical sciences; Case studies; CDK5R1; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 17; Cytogenetic Analysis - methods; Developmental Disabilities - genetics; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Humans; Male; Medical genetics; Medical sciences; Mental retardation; Molecular and cellular biology; Neurology; NF1; Nucleic Acid Hybridization; Research methodology; Tumors of the nervous system. Phacomatoses
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2007.00896.x

High‐resolution array‐comparative genome hybridization (CGH) is a powerful tool for detection of submicroscopic chromosome deletions and duplications. We describe two patients with mild mental retardation (MR) and de novo microdeletions of 17q11.2q12. Although the deletions did not involve the neurofibromatosis type 1 (NF1) gene, they overlap with long‐range deletions of the NF1 region which have been encountered in a small group of NF1 patients with more severe MR. Given the overlap of the deletions in our two patients with the large‐sized NF1 microdeletions but not with the more frequent and smaller NF1 deletions, we hypothesize that more than one gene in the 17q11.2q12 region may be involved in MR. We discuss candidate genes for MR within this interval that was precisely defined through array‐CGH analysis.