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Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region
Author(s) -
Michelson Marina,
BenSasson Anat,
Vinkler Chana,
LeshinskySilver Esther,
Netzer Ifat,
Frumkin Ayala,
Kivity Sara,
LermanSagie Tally,
Lev Dorit
Publication year - 2012
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.35361
Subject(s) - microcephaly , subtelomere , intellectual disability , genetics , microdeletion syndrome , biology , corpus callosum , dysgenesis , comparative genomic hybridization , gonadal dysgenesis , phenotype , chromosome , gene , anatomy
Abstract Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, this is a recognizable microdeletion syndrome associated with intellectual disability (ID), acquired microcephaly, typical dysmorphic features, structural anomalies of the brain, and nonspecific multiple organ anomalies. Most of the reported cases have cytogenetically visible interstitial deletions or subtelomeric microdeletions. We report on a boy with global developmental delay, distinct dysmorphic features, dysgenesis of the corpus callosum, limb anomalies, and genital hypoplasia who has a small interstitial deletion of the long arm of chromosome 6 detected by comparative genomic hybridization (CGH). The deleted region spans around 1 Mb of DNA and contains only two coding genes, ARID1B and ZDHHC14 . To the best of our knowledge, this case represents the typical phenotype with the smallest deletion reported so far. We discuss the possible role of these genes in the phenotypic manifestations. © 2012 Wiley Periodicals, Inc.