Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes.

[22q11.2 deletion syndrome]

Microdeletions of the 5 q 11 .2 region are rare ; in literature only two patients with a deletion in this region have been reported so far . In this study , we describe four additional patients and further define this new 5 q 11 .2 microdeletion syndrome . A comparison of the features observed in all six patients with overlapping 5 q 11 .2 deletions showed a phenotypic spectrum that overlaps with CHARGE syndrome and 22 q 11 .2 deletion syndrome including choanal atresia , developmental delay , heart defects , external ear abnormalities , and short stature . No colobomas or abnormalities of semicircular canals and olfactory nerves were reported . Two male patients had genital abnormalities . We estimated a 2 .0 â€‰Mb (53 .0 -55 .0 â€‰Mb ) Shortest Region of Overlap (SRO ) for the main clinical characteristics of the syndrome . This region contains nine genes and two non-coding microRNAs . In this region DHX 29 serves as the candidate gene as it encodes an ATP-dependent RNA-helicase that is involved in the initiation of RNA translation . Screening a small cohort of 14 patients who presented the main features , however , did not reveal any pathogenic abnormalities of DHX 29 . Â© 2014 Wiley Periodicals , Inc .

Diseases
Validation

Diseases presenting "genital abnormalities" symptom

22q11.2 deletion syndrome

congenital adrenal hyperplasia

cystinuria

This symptom has already been validated