19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. [electronic resource]
- Clinical genetics Jan 2012
- 56-63 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/j.1399-0004.2010.01615.x doi
Adolescent Adult Aged Alu Elements Child Child, Preschool Chromosome Duplication Chromosomes, Human, Pair 19--genetics Craniofacial Abnormalities--genetics DNA (Cytosine-5-)-Methyltransferase 1 DNA (Cytosine-5-)-Methyltransferases--genetics DNA Methylation DNA Mutational Analysis Female Gene Expression Regulation Genome, Human Humans Infant Learning Disabilities--genetics Leukocytes, Mononuclear--cytology Male Middle Aged Oligonucleotide Array Sequence Analysis Pedigree Phenotype Sotos Syndrome--genetics