trisomy 17p
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
MONDO:0016950
partial duplication of the short arm of chromosome 17
is_a
17p duplication
related
17p trisomy
related
Duplication 17p
related
chromosome 17p duplication
related
dup(17p)
exact
partial trisomy 17p
related
trisomy type 17p
exact