A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

We report on a 21 -year old woman with intellectual disability , autistic features , severe obesity , and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS ). Array-CGH analysis showed a 2 .89 Mb deletion on chromosome 14 q 11 .2 containing 47 known genes . The most interesting genes included in this deletion are CHD 8 , a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders , and MMP 14 , a matrix metalloproteinase that has been linked to obesity and type 2 diabetes . This report shows that 14 q 11 .2 microdeletions can mimic WHS and suggests that gene (s ) in the deleted interval that may be responsible for a phenocopy of WHS .