mosaic trisomy 15
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.
MONDO:0700022
chromosome 15 disorder
is_a
MONDO:0700065
trisomy
is_a
Mosaic trisomy chromosome 15
exact
Mosaic trisomy type 15
exact
chromosome 15, trisomy mosaicism
related
trisomy 15 mosaicism
exact