Article
De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Chen C-P, Lin S-P, Huang Y-L, Chern S-R, Su J-W, Lee C-C, Chen W-L, Wang W
Abstract excerpt
We report the cytogenetic and molecular characterization of a 9.46-Mb terminal deletion of 2q in a 3-year-old girl with a de novo satellited 2q (2qs), corpus callosum dysgenesis, short stature, mental retardation and developmental delay. We speculate that haploinsufficiency of HDAC4 is responsible for short stature, mental retardation and developmental delay, and haploinsufficiency of EFHD1 is most likely...
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