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

Hela Ben Khelifa; Molka Kammoun; Hanene Hannachi; Najla Soyah; Saber Hammami; Hatem Elghezal; Damien Sanlaville; Ali Saad; Soumaya Mougou-Zerelli

doi:10.1055/s-0035-1565269

Journal of Pediatric Genetics, Table of Contents

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

Authors

Hela Ben Khelifa

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
Molka Kammoun

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
Hanene Hannachi

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
Najla Soyah

³Pediatric Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Saber Hammami

⁴Pediatric Department, Fattouma Bourguiba University Teaching Hospital, Monastir, Tunisia
Hatem Elghezal

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
Damien Sanlaville

⁵Cytogenetic Department, Biological and Pathological Center EST, Bron, Lyon- France
Ali Saad

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia
Soumaya Mougou-Zerelli

¹Cytogenetic and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Sousse, Tunisia

²Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Tunisia

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

Full Text

References

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