Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. [electronic resource]
- Gene Mar 2013
- 158-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1879-0038
10.1016/j.gene.2012.12.027 doi
Abnormalities, Multiple--genetics Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 2--genetics Gene Deletion Gene Dosage Humans In Situ Hybridization, Fluorescence Intellectual Disability--diagnosis Karyotype Male Microcephaly--genetics Phenotype Polymorphism, Single Nucleotide Syndrome