trisomy 9p
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0700043
syndrome caused by partial chromosomal duplication of the short arm of chromosome 9
is_a
9p duplication
exact
9p trisomy
exact
Duplication 9p
exact
Duplication of the short arm of chromosome 9
exact
chromosome 9p duplication
exact
partial duplication of chromosome 9p
exact
partial duplication of the short arm of chromosome 9
exact
partial trisomy 9p
exact
partial trisomy of chromosome 9p
exact
partial trisomy of the short arm of chromosome 9
exact
partial trisomy of the short arm of chromosome type 9
exact
trisomy of the short arm of chromosome 9
exact
trisomy type 9p
exact