Mosaic trisomy 17

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Synonyms: Mosaic trisomy chromosome 17 | Trisomy 17 mosaicism

Mosaic trisomy 17 is a rare chromosomal anomaly syndrome with a highly variable clinical presentation mostly characterized by growth delay intellectual disability body asymmetry with leg length differentiation scoliosis and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation nuchal thickening brain anomalies (e.g. cerebellar hypoplasia) pleural effusion and single umbilical artery. Patients with no associated malformations 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 May 2024

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Mosaic trisomy 17?

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