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Partial trisomy of the long arm of chromosome 18

MedGen UID:
167200
•Concept ID:
C0809935
•
Disease or Syndrome
Synonyms: Chromosome 18, trisomy 18q; Duplication 18q; Trisomy 18q
 
Monarch Initiative: MONDO:0016968
Orphanet: ORPHA262977

Definition

Duplication of the long arm of chromosome 18 with variable abnormalities, including intra-uterine growth retardation; characteristic facies with malformed ears, micrognathia, and prominent occiput; heart malformations; and psychomotor retardation. [from MCA/MR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial trisomy of the long arm of chromosome 18

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    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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    • PubMed
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