Mosaic trisomy 20

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Synonyms: Mosaic trisomy chromosome 20 | Trisomy 20 mosaicism

Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis vertebral fusion and kyphosis) hypotonia lifelong constipation sloped shoulders skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes with patients presenting psychomotor and speech delay mild facial dysmorphism cardiac (i.e. ventricular septal defect dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys) 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 20?

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