Article
MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.
American journal of medical genetics. Part A - 1 Nov 2011
Stevens Servi J C, van Ravenswaaij-Arts Conny M A, Janssen Jannie W H, Klein Wassink-Ruiter Jolien S, van Essen Anthonie J, Dijkhuizen Trijnie, van Rheenen Jeroen, Heuts-Vijgen Regina, Stegmann Alexander P A, Smeets Eric E J G L, Engelen John J M
Abstract excerpt
A partial deletion of chromosome band 2p25.3 (2pter) is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Using microarrays we identified deletions of 2p25.3, sized 0.37-3.13 Mb, in three adult siblings and three unrelated patients. All patients had ID, obesity or overweight and/or a square-shaped stature without overt facial dysmorphic features. Combining our data with...
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