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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.