General Information of Disease (ID: DISB3PDJ)

Disease Name Partial deletion of the long arm of chromosome 8
Synonyms
8q monosomy; monosomy 8q; deletion 8q; partial monosomy 8q; chromosome 8q deletion; 8q deletion; partial monosomy of the long arm of chromosome 8; partial monosomy of chromosome 8q; partial deletion of the long arm of chromosome type 8; partial deletion of chromosome 8q
Definition
Chromosome 8q 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 8. 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 8q deletion include developmental delay, intellectual disability, behavioral problems, 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
:
DISB3PDJ: Partial deletion of the long arm of chromosome 8
Disease Identifiers
MONDO ID
MONDO_0016907
MESH ID
C537828
UMLS CUI
C0795828
MedGen ID
208638
Orphanet ID
262065