Details of Disease

General Information of Disease (ID: DIS2O9FK)

• Disease Name: Partial deletion of the long arm of chromosome 6
• Synonyms: 6q monosomy; partial monosomy 6q; monosomy 6q; 6q deletion; chromosome 6q deletion; deletion 6q; partial deletion of chromosome 6q; partial monosomy of chromosome 6q; partial deletion of the long arm of chromosome type 6; partial monosomy of the long arm of chromosome 6
• 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.
• Disease Hierarchy:
  DIS1DD8C: Syndrome caused by partial chromosomal deletion
  :
  DIS2O9FK: Partial deletion of the long arm of chromosome 6
• Disease Identifiers:
  MONDO ID: MONDO_0016905
  MESH ID: C537807
  UMLS CUI: C0795816
  MedGen ID: 162772
  Orphanet ID: 262047

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A2	DTW78DQ	Strong	Genetic Variation	[1]

References

• [1] Cytogenetic studies in patients from India with T-acute lymphoblastic leukemia.Cancer Genet Cytogenet. 1998 Oct 1;106(1):44-8. doi: 10.1016/s0165-4608(98)00039-9.