Trisomi 9p
Engelsk navn: Trisomy 9p
Engelske synonym: Duplication 9p,Duplication of the short arm of chromosome 9,Trisomy of the short arm of chromosome 9
Definisjon
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.
Fra Orphanet
ORPHA: 236
Klassifiseringsnivå: Disorder
ICD-10: Q92.2
