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last update : 30-11-2011
Symbol DEL10Q11
Location 10q11.21q11.23
Name chromosome 10q11.2 microdeletion/microduplication
Corresponding gene CHAT , SLC18A3
Other symbol(s) DUP10Q11
Main clinical features
  • variable phenotypic expressivity and incomplete penetrance
  • developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals.
  • other features present in more than one patient with deletion, include hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis
  • PMID: 21948486
    Genetic determination chromosomal
    genomic disorder
    Prevalence at least 24 unrelated deletions/17 duplications
    Function/system disorder
    Type MCA/MR
    Gene product
    Name the CHAT gene encodes choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT encodes vesicular acetylcholine transporter
    Gene mutationChromosome rearrangementEffectComments
      deletion   from 0.3 to 12 Mb, presence of a small, unique sequence overlap of approximately 1.5 Mb (between 49.2 and 50.6 Mb, LCR 10q11.2 from C to D), encompassing 11 RefSeq genes
      duplication   reciprocal
    Remark(s) not including PTEN gene
    Genotype/Phenotype correlations in most cases the deletion is transmitted by apparently normal carrier parents