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GENATLAS PHENOTYPE
last update : 26-04-2012
Symbol DUP8Q12
Location 8q12.2
Name chromosome 8q12 duplication, including CHD7
Corresponding gene CHD7
Main clinical features
  • early hypotonia, cognitive impairment, Duane anomaly, sensorineural deafness and a congenital heart defect
  • Duane retraction syndrome (DRS) , developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, thin upper lip, full lower lip and full cheeks) PMID: 22258531
    • Genetic determination chromosomal
    Prevalence 3 cases
    Function/system disorder
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      duplication   a de novo tandem 6.9 Mb duplication of at least 15 genes in chromosome 8q12, inclusive of CHD7, with breakpoints at 58,388,614 bp and 65,306,097 bp (NCBI build 36.1)
      duplication   with a minimal critical region is 1.2 Mb and encompasses four genes: CA8, RAB2, RLBP1L1 and CHD7
    Remark(s)