trisomy 5p
Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0016942
partial trisomy/tetrasomy of the short arm of chromosome 5
is_a
MONDO:0019716
overgrowth syndrome
is_a
5p duplication
related
5p trisomy
related
Chromosome 5, Trisomy 5p
exact
Duplication 5p
exact
Duplication of the short arm of chromosome 5
exact
chromosome 5p duplication
related
partial trisomy 5p
related
trisomy of the short arm of chromosome 5
exact
trisomy type 5p
exact