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Partial deletion of the long arm of chromosome 4

MedGen UID:
468967
Concept ID:
C0265404
Disease or Syndrome
Synonyms: Chromosome 4 Long Arm Deletion; Chromosome 4, monosomy 4q; Chromosome 4q- Syndrome; Deletion 4q; Monosomy 4q
SNOMED CT: Chromosome 4q deletion syndrome (37506004); 4q partial monosomy syndrome (37506004)
 
Monarch Initiative: MONDO:0016903
Orphanet: ORPHA262029

Definition

Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial deletion of the long arm of chromosome 4

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