Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification

• Published in: Journal of genetics Vol. 95; no. 2; pp. 469 - 474
• Main Authors: MOHAN, SHRUTHI, VENKATESAN, VETTRISELVI, PAUL, SOLOMON FD, KOSHY, TEENA, PERUMAL, VENKATACHALAM
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.06.2016; Springer; Springer Nature B.V
• Subjects: Adolescent; Animal Genetics and Genomics; Biomedical and Life Sciences; Child; Child, Preschool; Chromosome Aberrations; Chromosomes; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 7; DNA Probes - chemistry; DNA Probes - genetics; Evolutionary Biology; Female; Genomes; Humans; Infant; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Karyotyping; Life Sciences; Male; Microbial Genetics and Genomics; Multiplex Polymerase Chain Reaction - methods; Plant Genetics and Genomics; Research Note; Telomere; chromosome rearrangement; idiopathic intellectual disability; multiplex ligation-dependent probe amplification
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-016-0644-z

Intellectual disability (ID) is a complex disorder with heterogeneous aetiology. The prevalence rate is about 23% worldwide. The cause of ID in at least half of the affected population is unclear and is reported as idiopathic ID. In addition to chromosomal abnormalities (Rio et al. 2002) and single gene mutations (Curry et al. 1997), segmental aneusomy caused by genomic rearrangements that may occur throughout the genome is implicated as a signicant aetiological factor.