U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Partial deletion of the long arm of chromosome 6

MedGen UID:
162772
Concept ID:
C0795816
Disease or Syndrome
Synonyms: Chromosome 6, monosomy 6q; Deletion 6q; Monosomy 6q
 
Monarch Initiative: MONDO:0016905
Orphanet: ORPHA262047

Definition

Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people 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 6

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...