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GENATLAS PHENOTYPE
last update : 26/10/2005
Symbol DEL7Q36
Location 7q36.3
Name chromosome 7q36 terminal deletion
Other name(s) monosomy 7q36
Corresponding gene SHH , MNX1
Main clinical features
  • phenotypic variability
  • brain findings of holoprosencephaly (HPE), often mild such as hypoplasia or agenesis of corpus callosum or pituitary abnormalities
  • craniofacial findings of HPE, often mild such as microcephaly, midface hypoplasia, single central or absent incisors
  • signs of Currarino syndrome particularly sacral agenesis
    • Genetic determination chromosomal
    Function/system disorder mental retardation
    multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   subtle or submicroscopic 7q36 deletion including SHH and HLXB9 genes
      translocation   unbalanced translocation with associated trisomy for another chromosome
      ring   with terminal 7q36 deletion
    Remark(s) more frequently reported terminal 7q deletions involved region 7q32-qter
    Genotype/Phenotype correlations an interstitial juxtasubtelomeric q36.1q36.2 deletion with long QT syndrome, renal hypoplasia, common facial gestalt and mental retardation has also been described