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Tetraploidy is an extremely rare chromosomal anomaly polyploidy when an affected individual has four copies of each chromosome instead of two resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies including central nervous system ocular cardiac renal and/or genital malformations and limb defects. Most patients show severe intrauterine growth retardation hypotonia failure to thrive and developmental delay. It is usually associated with miscarriage.

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 September 2023.

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