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GENATLAS PHENOTYPE
last update : 5/10/2005
Symbol DEL20Q13
Location 20q13.32
Name chromosome 20q interstitial deletion of paternal origin, including the GNAS complex locus
Other name(s) monosomy 20q13
Corresponding gene GNAS
Main clinical features
  • severe pre- and postnatal growth retardation, intractable feeding difficulties, abnormal subcutaneous adiposetissue, mild mental retardation and hypotonia
  • unusual facial features include sparce and blond hair, high forehead, medial flare of the eyebrows, large and and simple ears, short philtrum and small pointed chin
    • Genetic determination epigenetic
    chromosomal
    Prevalence very rare (>5 patients)
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   common deleted region of 4.5Mb on the paternal chr between markers D20S100 and D20S173, including the GNAS complex locus and TFAP2C gene
    Remark(s)