Mosaic trisomy 16

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Synonyms: Mosaic trisomy chromosome 16 | Trisomy 16 mosaicism

Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation abnormal skin pigmentation craniofacial and body asymmetry cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias cryptorchidism) anomalies scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly talipes) mild facial dysmorphism and developmental delay.

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

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Mosaic trisomy 16?

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