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J Pediatr Genet 2015; 04(04): 187-193
DOI: 10.1055/s-0035-1565269
Original Article
Georg Thieme Verlag KG Stuttgart · New York

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

Hela Ben Khelifa
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
,
Molka Kammoun
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
,
Hanene Hannachi
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
,
Najla Soyah
3   Pediatric Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
,
Saber Hammami
4   Pediatric Department, Fattouma Bourguiba University Teaching Hospital, Monastir, Tunisia
,
Hatem Elghezal
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
,
Damien Sanlaville
5   Cytogenetic Department, Biological and Pathological Center EST, Bron, Lyon- France
,
Ali Saad
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
,
Soumaya Mougou-Zerelli
1   Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
2   Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
› Author Affiliations
Further Information

Publication History

01 April 2015

08 September 2015

Publication Date:
14 October 2015 (online)

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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
 

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