Mosaic trisomy 15
Synonyms: Mosaic trisomy chromosome 15 | Trisomy 15 mosaicism
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Mosaic trisomy 15?
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