The 12q14 microdeletion syndrome: six new cases confirming the role of XXXX in growth.

@entity1 @entity19622 @entity154 @entity851 @entity245 @entity2438 @entity34265 @entity4297 @entity849 @entity10791 @entity4238 @entity118 @entity472 @entity9625
We report six @entity1 with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on @entity1 with @entity245 and @entity4238 in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included @entity9625 , and both @entity1 had significant @entity851 . Neither case had @entity19622 despite both being deleted for @entity34265 . Four cases had deletions that ended proximal to @entity9625 and all of these had much better growth. Five cases had @entity4297 , including two with @entity118 , one each with @entity849 , @entity472 and a patent ductus. Four cases had moderate delay, two had severe @entity245 and a further two had a diagnosis of @entity2438 . All six cases had significant @entity10791 with @entity154 .
