partial deletion of the long arm of chromosome 6
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.
Exact Synonyms
partial deletion of chromosome 6q
partial deletion of the long arm of chromosome type 6
partial monosomy of chromosome 6q
partial monosomy of the long arm of chromosome 6
Related Synonyms
6q deletion
6q monosomy
chromosome 6q deletion
deletion 6q
monosomy 6q
partial monosomy 6q
class Information
has exact match
has_dbxref
- GARD:3760
- icd11.foundation:41692353
- MEDGEN:162772
- MESH:C537807
- Orphanet:262047
- UMLS:C0795816
term tracker item