Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. [electronic resource]
- Human mutation Jan 2012
- 165-79 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21614 doi
Abnormalities, Multiple--genetics Child Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 10 DNA Copy Number Variations Developmental Disabilities--complications Female Genetic Variation Homologous Recombination Humans In Situ Hybridization, Fluorescence Infant Intellectual Disability--complications Male Nerve Growth Factors--genetics Oligonucleotide Array Sequence Analysis Penetrance Segmental Duplications, Genomic--genetics Sequence Deletion Vesicular Acetylcholine Transport Proteins--genetics