Mosaic trisomy 15

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Mosaic trisomy 15?

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