Trisomi 15 mosaikk
Også kjent som: Mosaic trisomy 15
Engelsk navn: Mosaic trisomy 15
Engelske synonym: Mosaic trisomy chromosome 15,Trisomy 15 mosaicism
Definisjon
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Fra Orphanet
ORPHA: 1706
Klassifiseringsnivå: Disorder
ICD-10: Q92.1
