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Tetraploidy syndrome

MedGen UID:
163193
Concept ID:
C0795884
Disease or Syndrome
Synonyms: 92,XXXX syndrome; Chromosome tetraploidy syndrome; Tetraploidy
 
Monarch Initiative: MONDO:0018026
Orphanet: ORPHA3305

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTetraploidy syndrome

Professional guidelines

PubMed

Alshareefy Y, Shen CY, Prekash RJ
Pathol Res Pract 2023 Aug;248:154655. Epub 2023 Jun 26 doi: 10.1016/j.prp.2023.154655. PMID: 37429175
Demirhan O, Pazarbaşı A, Güzel Aİ, Taştemir D, Yilmaz B, Kasap M, Özgünen FT, Evrüke C, Demir C, Tunç E, Kocatürk-Sel S, Onatoğlu-Arikan D, Koç S, Özer O, İnandiklioğlu N
Genet Test Mol Biomarkers 2011 Oct;15(10):701-7. Epub 2011 Jun 23 doi: 10.1089/gtmb.2010.0171. PMID: 21699408
Danes BS, Boyle PD, Traganos F, Melamed MR
Dis Markers 1986 Dec;4(4):271-82. PMID: 2838216

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