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J Pediatr Genet 2015; 04(04): 187-193
DOI: 10.1055/s-0035-1565269
DOI: 10.1055/s-0035-1565269
Original Article
Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits
Further Information
Publication History
01 April 2015
08 September 2015
Publication Date:
14 October 2015 (online)
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.
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