trisomy 8 mosaicism

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