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Neural tube defects and atypical deletion on 22q11.2

2014-08-13 00:01:34

American Journal of Medical Genetics, Part A; 13 AUG 2014; DOI: 10.1002/ajmg.a.36701



Chiara Leoni, David A. Stevenson, Katherine B. Geiersbach, Christian N. Paxton, Bryan L. Krock, Rong Mao, Alan F. Rope



Abstract



The 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion disorder. Most of the patients show the common 3Mb deletion but proximal 1.5Mb 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 0.8Mb 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.



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