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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
Author(s) -
Béna Frédérique,
Bottani Armand,
Marcelli Fabienne,
Sizonenko Loredana D'Amato,
Conrad Bernard,
Dahoun Sophie
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31789
Subject(s) - comparative genomic hybridization , genetics , subtelomere , fluorescence in situ hybridization , biology , chromosome , breakpoint , phenotype , fish <actinopterygii> , gene , fishery
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. © 2007 Wiley‐Liss, Inc.