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

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

J Pediatr Genet

Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia; Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia.

Published: December 2015

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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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906530PMC
http://dx.doi.org/10.1055/s-0035-1565269DOI Listing

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