Mosaic trisomy 17

Get in touch with RARE Concierge.

Contact RARE Concierge

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 May 2024

Newly diagnosed with
Mosaic trisomy 17?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.