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Neural tube defects and atypical deletion on 22q11.2
Author(s) -
Leoni Chiara,
Stevenson David A.,
Geiersbach Katherine B.,
Paxton Christian N.,
Krock Bryan L.,
Mao Rong,
Rope Alan F.
Publication year - 2014
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.36701
Subject(s) - breakpoint , neural tube , genetics , microdeletion syndrome , comparative genomic hybridization , deletion syndrome , biology , chromosome , microarray , intellectual disability , phenotype , gene , embryo , gene expression
The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3 Mb deletion but proximal 1.5 Mb deletion and unusual deletions located outside the common deleted region, have been detected particularly with the advance of comparative cytogenomic microarray technologies. The individuals reported in the literature with unusual deletions involving the 22q11 region, showed milder facial phenotypes, decreased incidence of cardiac anomalies, and intellectual disability. We describe two sibs with an atypical 0.8 Mb microdeletion of chromosome 22q11 who both showed myelomeningocele and mild facial dysmorphisms. The association between neural tube defect and the clinical diagnosis of Di George anomaly/velocardiofacial syndrome is well documented in the literature, but not all cases had molecular studies to determine breakpoint regions. This report helps to narrow a potential critical region for neural tube defects associated with 22q11 deletions. © 2014 Wiley Periodicals, Inc.