Mosaic trisomy 17
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Mosaic trisomy 17?
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Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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