J Pediatr Genet 2017; 06(02): 084-091
DOI: 10.1055/s-0036-1588027
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation

Hela Ben Khelifa
1   Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
,
Najla Soyah
2   Department of Pediatric, Farhat Hached University Teaching Hospital, Sousse, Tunisia
,
Audrey Labalme
3   Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France
,
Helene Guilbert
3   Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France
,
Damien Sanlaville
3   Hospices Civils de Lyon, Service de Cytogénétique Constitutionnelle, Lyon, France
,
Ali Saad
1   Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
,
Soumaya Mougou-Zerelli
1   Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
› Institutsangaben
Weitere Informationen

Publikationsverlauf

22. März 2016

19. Juli 2016

Publikationsdatum:
08. September 2016 (online)

Abstract

Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. In this article, we succeeded to detect seven new variations of unknown significance (dup12p13.33, dup2p16.3, dupXq13.2, del12q24.33, dup16p13.11, trip4q22.1, and dup9p21.3), one CNV classified as known pathogenic syndrome (del22q13.31-q33), and one CNV classified as potentially pathogenic (del11q24.3). We emphasize the role of comparative genomic hybridization arrays in the investigation of intellectual disability and evaluate the usefulness of existing systems in the interpretation of CNVs.

 
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