A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features

Béna, Frédérique; Bottani, Armand; Marcelli, Fabienne; Sizonenko, Loredana D'Amato; Conrad, Bernard; Dahoun, Sophie (2007). A de novo 1.1-1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features. American journal of medical genetics. Part A, 143A(16), pp. 1894-9. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31789

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We report on a de novo submicroscopic deletion of 20q13.33 identified by subtelomeric fluorescence in situ hybridization (FISH) in a 4-year-old girl with learning difficulties, hyperlaxity and strabismus, but without obvious dysmorphic features. Further investigations by array-based comparative genomic hybridization (array-CGH) and FISH analysis allowed us to delineate the smallest reported subterminal deletion of chromosome 20q, spanning a 1.1-1.6 Mb with a breakpoint localized between BAC RP5-887L7 and RP11-261N11. The genes CHRNA4 and KCNQ2 implicated in autosomal dominant epilepsy are included in the deletion interval. Subterminal 20q deletions as found in the present patient have, to our knowledge, only been reported in three patients. We review the clinical and behavioral phenotype of such "pure" subterminal 20q deletions.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Conrad, Bernard
ISSN:	1552-4825
ISBN:	17632785
Publisher:	Wiley-Liss
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:55
Last Modified:	05 Dec 2022 14:17
Publisher DOI:	10.1002/ajmg.a.31789
PubMed ID:	17632785
Web of Science ID:	000248518400012
URI:	https://boris.unibe.ch/id/eprint/23404 (FactScience: 41727)