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GENATLAS PHENOTYPE
last update : 24/01/07
Symbol DEL15Q14
Location 15q13q14
Name chromosome 15q14 deletion
Other name(s) 15q14 monosomy
Corresponding gene MEIS2
Main clinical features
  • developmental delay/mental retardation, speech and language disorder,
  • cleft palate/bifid uvula,
  • congenital heart defect (PFO or ASD),
  • mild dysmorphic features
  • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   cytogenetically visible,variable size
      deletion   submicroscopic, 4.2 to 9 Mb with overlapping deleted region encompassing about 20 genes
    Remark(s) MEIS2 is a candidate gene for cleft palate and cardiac septal defects