Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits

J Pediatr Genet. 2015 Dec;4(4):187-93. doi: 10.1055/s-0035-1565269. Epub 2015 Oct 14.

Abstract

We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means of oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or behavioral problems. Only one patient presented with intellectual disability and carrying deletion of TNKS gene. We presumed the inclusion of TNKS gene in the mental impairment.

Keywords: 8p deletion; CGH array; TNKS gene; intellectual disability.