Fanconi’s anemia in monozygotic twins

作者: Fulton D’souza , M. K. Usha , S. D. Subba Rao

DOI: 10.1007/S12098-007-0154-3

关键词:

摘要: Fanconi’s anemia is one of the inherited causes bone marrow failure. It in autosomal recessive fashion. presents as aplastic usually at age 7–8 yr. Leukemias and solid tumours are complications those who manage to survive beyond two decades. Though it has been seen siblings, reports monozygotic twins have very few.

参考文章(14)
SJ White, Ellen Sterrenburg, GJ B van Ommen, JT Den Dunnen, MH Breuning, An alternative to FISH: detecting deletion and duplication carriers within 24 hours Journal of Medical Genetics. ,vol. 40, pp. 1- 4 ,(2003) , 10.1136/JMG.40.10.E113
Steven R. Poole, Ann C. M. Smith, Taru Hays, Loris McGavran, Arleen D. Auerbach, Monozygotic twin girls with congenital malformations resembling fanconi anemia. American Journal of Medical Genetics. ,vol. 42, pp. 780- 784 ,(1992) , 10.1002/AJMG.1320420606
Monique de Vroede, Walter Feremans, Emilie de Maertelaere-Laurent, Israel Mandelbaum, Michèle Toppet, Esther Vamos, Pierre Fondu, Fanconi's anaemia. Simultaneous onset in 2 siblings and unusual cytological findings. Scandinavian Journal of Haematology. ,vol. 28, pp. 431- 440 ,(2009) , 10.1111/J.1600-0609.1982.TB00549.X
Ahmet Koc, Jan C. Pronk, Mehmet Alikasifoglu, Hans Joenje, Çigdem Altay, Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family. British Journal of Haematology. ,vol. 104, pp. 127- 130 ,(1999) , 10.1046/J.1365-2141.1999.01156.X
Francesco Galimi, Meenakshi Noll, Yoshiyuki Kanazawa, Timothy Lax, Cindy Chen, Markus Grompe, Inder M. Verma, Gene therapy of Fanconi anemia: preclinical efficacy using lentiviral vectors. Blood. ,vol. 100, pp. 2732- 2736 ,(2002) , 10.1182/BLOOD-2002-04-1245
M. L. KWEE, J. R. LO TEN FOE, F. ARWERT, G. PALS, K. MADAN, A. NIEUWINT, P. A. IN 'T VELD, A. R. VAN DER HORST, J. M. G. VAN VUGT, L. P. TEN KATE, Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis. Prenatal Diagnosis. ,vol. 16, pp. 345- 348 ,(1996) , 10.1002/(SICI)1097-0223(199604)16:4<345::AID-PD852>3.0.CO;2-9
ARLEEN D. AUERBACH, SANDRA R. WOLMAN, Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens Nature. ,vol. 261, pp. 494- 496 ,(1976) , 10.1038/261494A0
Phillip M. Cox, Rachel A. Gibson, Neil Morgan, Louise A. Brueton, VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): Mutation in the FAC gene American Journal of Medical Genetics. ,vol. 68, pp. 86- 90 ,(1997) , 10.1002/(SICI)1096-8628(19970110)68:1<86::AID-AJMG17>3.0.CO;2-K
Blanche P. Alter, Fanconi's anemia and malignancies. American Journal of Hematology. ,vol. 53, pp. 99- 110 ,(1996) , 10.1002/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z