Article
Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
American journal of medical genetics. Part A - 1 Jan 2016
Basit Sulman, Malibari Omhani I, Al-Balawi Alia M, Afzal Sibtain, Eldardear Amr Elsayed Mohamed, Ramzan Khushnooda
Abstract excerpt
X-linked intellectual disability is the most common form of neurological disorder in male and accounts for 5-10% of incidence in the population. Copy number variants (CNVs) have been studied extensively to identify genomic regions responsible for neurological disorders. Array CGH and SNP genotyping have identified several CNVs on X-chromosome in patients with X-linked intellectual disability. We genotyped 2.5...
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