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#