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GENATLAS PHENOTYPE
last update : 24-09-2010
Symbol DEL3PD
Location 3p25.3-p26
Name chromosome 3p25 deletion syndrome
Other name(s)
  • monosomy 3p, 3p- syndrome, distal 3p deletion syndrome
    • Corresponding gene CNTN4 , CHL1 , CRELD1 , SRGAP3
    Other symbol(s) PMRS, DEL3P25
    Main clinical features
  • ptosis, microbrachycephaly, hypertelorism, flat and broad nasal root, short nose with bulbous nasal tip, thin upper lip, long philtrum, micrognathia, low set ears
  • growth retardation, mental and psychomotor retardation, hypotonia
  • congenital heart defects (atrio-ventricular septal defect), in one third of patients
  • less consistent : post axial polydactyly, cleft palate, renal anomalies, gastrointestinal anomalies, preauricular pits, sacral dimples
    • Genetic determination chromosomal
    Prevalence less than 30 patients described
    Related entries AVSD2
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome encompassing at least 50 known genes
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   cytogenetically visible deletion or subtelomeric screening, variable breakpoints, usually terminal
      translocation   unbalanced with variable associated trisomy
      deletion   interstitial deletion in some cases, minimal CR : 4.5 Mb between D3S3630 et D3S1304
    Remark(s) monosomy for one or more of four genes at 3pter, CHL1, CNTN4, CRBN, and MEGAP/srGAP3, may play a causative role
    Genotype/Phenotype correlations distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay suggesting a lack of penetrance in some individuals; CRELD1 was proposed as a candidate gene for AVSD but not confirmed, some patients may be deleted for VHL and at risk for neoplasia; SRGAP3 may be a major determinant of MR (Shuib,2009)