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 .

Diseases
Validation

Diseases presenting "intellectual disability" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aniridia

child syndrome

cohen syndrome

cowden syndrome

hirschsprung disease

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

monosomy 21

oculocutaneous albinism

oligodontia

phenylketonuria

proteus syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated