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

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 - TNKS gene - CGH array - intellectual disability

• References

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