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Partial duplication of the long arm of chromosome 1

MedGen UID:
1642329
•Concept ID:
C4708598
•
Cell or Molecular Dysfunction
Synonyms: 1q duplications; Partial duplication of chromosome 1q; partial duplication of chromosome 1q; Partial duplication of long arm of chromosome 1; partial duplication of the long arm of chromosome 1; partial duplication of the long arm of chromosome type 1; partial trisomy 1q; Partial trisomy of chromosome 1q; partial trisomy of chromosome 1q; Partial trisomy of long arm of chromosome 1; Partial trisomy of the long arm of chromosome 1; partial trisomy of the long arm of chromosome 1
SNOMED CT: Partial duplication of long arm of chromosome 1 (768931007); Partial trisomy of long arm of chromosome 1 (768931007)
 
Monarch Initiative: MONDO:0016952
Orphanet: ORPHA262833

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial duplication of the long arm of chromosome 1

Professional guidelines

PubMed

The role of comparative genomic hybridisation in prenatal diagnosis.
Thein A, Charles A, Davies T, Newbury-Ecob R, Soothill P
BJOG 2001 Jun;108(6):642-8. doi: 10.1111/j.1471-0528.2001.00139.x. PMID: 11426901

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