General Information of Disease (ID: DISU69FG)

Disease Name Partial duplication of the short arm of chromosome 16
Synonyms
trisomy 16p; 16p trisomy; partial trisomy 16p; 16p duplication; Duplication 16p; chromosome 16p duplication; partial duplication of chromosome 16p; partial duplication of the short arm of chromosome type 16; partial trisomy of the short arm of chromosome 16; partial trisomy of chromosome 16p
Definition
Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.
Disease Hierarchy
DISPKU5I: Syndrome caused by partial chromosomal duplication
:
DISU69FG: Partial duplication of the short arm of chromosome 16
Disease Identifiers
MONDO ID
MONDO_0016949
UMLS CUI
C0795861
MedGen ID
208643
Orphanet ID
262794