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Partial trisomy of the long arm of chromosome 5

MedGen UID:
315659
Concept ID:
C1802398
Disease or Syndrome
Synonyms: Chromosome 5, trisomy 5q; Duplication 5q; Trisomy 5q
 
Monarch Initiative: MONDO:0016956
Orphanet: ORPHA262869

Definition

Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial trisomy of the long arm of chromosome 5

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