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1p21.3 microdeletion syndrome

MedGen UID:
930247
Concept ID:
C4304578
Disease or Syndrome
Synonyms: Del(1)(p21.3); Del(1)p(21.3); Monosomy 1p21.3; monosomy 1p21.3
SNOMED CT: 1p21.3 microdeletion syndrome (719600006); Monosomy 1p21.3 (719600006)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0017405
Orphanet: ORPHA293948

Definition

An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV1p21.3 microdeletion syndrome

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