Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG
Hum Mutat. 2012 33 (1): 165-79

PMID: 21948486 · PMCID: PMC3655525 · DOI:10.1002/humu.21614

MeSH Terms (22)

Abnormalities, Multiple Child Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 10 Developmental Disabilities DNA Copy Number Variations Female Genetic Variation Homologous Recombination Humans Infant In Situ Hybridization, Fluorescence Intellectual Disability Male Nerve Growth Factors Oligonucleotide Array Sequence Analysis Penetrance Segmental Duplications, Genomic Sequence Deletion Vesicular Acetylcholine Transport Proteins

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