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GENATLAS PHENOTYPE
last update : 18-05-2010
Symbol DEL1P36
Location 1p36.33
Name chromosome 1p subtelomeric deletion syndrome
Other name(s) monosomy 1pter, microdeletion 1p36
Corresponding gene SKI , KCNAB2 , MMP23A , MMP23B , GABRD
Main clinical features
  • characteristic facial features, including prominent forehead, straight eyebrows, deep-set eyes, short palpebral fissures, flat nasal bridge, and pointed chin
  • other features : moderate to profound mental retardation, hypotonia, oropharyngeal dysphagia, seizures, hearing impairment, growth failure, brain and cardiac defects
  • left-ventricular non-compaction, a form of cardiomyopathy, was reported in at least 12 patients
  • early epilepsy is a frequent finding with infantile spasms as of the most common features that can contribute to a poor clinical outcome (PMID: 18031548))
    • Genetic determination chromosomal
    Prevalence . estimated as 1-5000, making it the most common subtelomeric microdeletion syndrome
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome encompassing many genes
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency size varies widely from 1.5Mb to >10Mb, 70p100 are true terminal deletions, 7p100 interstitial retaining the 1p subtelomeric region
      translocation   derivative chr1 arising either de novo or as a consequence of a balanced parental translocation
    Remark(s) candidate genes: the SKI gene for facial clefting, the KCNAB2 gene for seizures, the MMP23 for cranial sutures, the GABRD gene for neuropsychiatric and neurodevelopmental abnormalities
    Genotype/Phenotype correlations cognitive deficits are usually more severe in individuals with larger deletions,