Neural tube defects and atypical deletion on 22q11.2.

[22q11.2 deletion syndrome]

The 22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) is a common microdeletion disorder . Most of the patients show the common 3 â€‰Mb deletion but proximal 1 .5 â€‰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 22 q 11 region , showed milder facial phenotypes , decreased incidence of cardiac anomalies , and intellectual disability . We describe two sibs with an atypical 0 .8 â€‰Mb microdeletion of chromosome 22 q 11 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 22 q 11 deletions . Â© 2014 Wiley Periodicals , Inc .