Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional trisomies > trisomy 8 mosaicism

trisomy 8 mosaicism

Monday 1 December 2003

Constitutional trisomy 8 mosaicism is compatible with a normal phenotype (7450754) and is associated with an increased risk of haematological proliferations (9880228, 8913726, 11746991).

Some authors have suggested than the presence of a tumoral trisomy 8 is an argument to investigate for a constitutional trisomy 8 mosaicism (8913726, 14734230).

Synopsis

- skeletal anomalies
- cardiac anomalies
- fetal hepatic calcification
- normal phenotype (7450754)

Tumoral predisposition

- aplastic anemia, refractory anaemia (8913726)
- acute lymphoblastic leukaemia (8913726)
- idiopathic myelofibrosis (8913726)
- myelodysplasia (11746991)
- acute leukemia (1248172, 11746991)
- chronic myelomonocytic leukaemia (11005148)
- leiomyosarcoma (1796968, 2246776)
- chondroid cystic malformation of the lung with trisomy 8 mosaicism (18520437)

Associations

- Behcet disease (16213367)
- antithrombin III deficiency (16213367)

See also

- constitutional trisomy 8
- tumoral trisomy 8 (tT8)

References

- Bouron-Dal Soglio D, Rougemont AL, De Buys Roessingh AS, Fetni R, Rypens F, Bouchard S, Montpetit A, Fournet JC. Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation. Am J Surg Pathol. 2008 Jul;32(7):1095-100. PMID: 18520437

- Jay A, Kilby MD, Roberts E, Brackley K, Platt C, McHugo J, Davison EV. Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology. Prenat Diagn. 1999 Oct;19(10):976-9. PMID: 10521826

- Molenaar WM, De Jong B, Van den Berg E. Leiomyosarcoma in a patient with trisomy 8 mosaicism. J Med Genet. 1991 Oct;28(10):724-5. PMID: 1796968

- Lessick M, Israel J, Szego K, Wong P. Leiomyosarcoma in a patient with trisomy 8 mosaicism. J Med Genet. 1990 Oct;27(10):643-4. PMID: 2246776