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3p deletion syndrome

Epidemiology: rare Genetics: 1) loss of telomeric portion of short arm of chromosome 3 2) associated with defects in CNTN4 3) associated with defects in CHL1 Clinical manifestations: 1) developmental delay 2) growth retardation 3) dysmorphic features 4) mental retardation may be due to loss of CHL1

Related

CHL1 contactin-4; brain-derived immunoglobulin superfamily protein 2; BIG-2 (CNTN4) protein hairless; lysine-specific demethylase hairless (HR)

General

congenital anomaly (birth defect) chromosome deletion syndrome

References

  1. OMIM :accession 209500
  2. UniProt :accession O43593, O00533