Tetraploidy
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 April 2024
Newly diagnosed with
Tetraploidy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.