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#