title: De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
abstract: 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 responsible for the phenotype of corpus callosum dysgenesis in this patient.
authors: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
authors: C-P
authors: CP
authors: Chen
authors: S-P
authors: SP
authors: Lin
authors: Y-L
authors: YL
authors: Huang
authors: S-R
authors: SR
authors: Chern
authors: J-W
authors: JW
authors: Su
authors: C-C
authors: CC
authors: Lee
authors: W-L
authors: WL
authors: Chen
authors: W
authors: W
authors: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D019066:Facies; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006655:Histone Deacetylases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D012097:Repressor Proteins; C400300:HDAC4 protein, human; D006655:Histone Deacetylases