[Cytogenetic studies in four cases of Fanconi's anemia (author's transl)].
作者信息
Berger R, Bussel A, Schenmetzler C
出版信息
Nouv Rev Fr Hematol. 1975 Sep-Oct;15(5):539-50.
PMID:130624
Abstract
In two sibships, four patients with Fanconi's anaemia were studied cytogenetically. Interfamilial variations of the frequency of chromosome breakage and rearrangements were found, suggesting the heterogeneity of the disease. Variations of chromosomal abnormalities have also been found during the course of the disease. An abnormal 47 chromosomes clone has been observed in the bone marrow cells from one patient. A mechanism of somatic segregation is probably involved in the constitution of that clone.
摘要
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引用本文的文献
1
Spectrum of anomalies in Fanconi anaemia.范可尼贫血中的异常谱
J Med Genet. 1982 Dec;19(6):412-6. doi: 10.1136/jmg.19.6.412.
2
Chromosomal studies of leukemic and preleukemic Fanconii's anemia patients: examples of acquired 'chromosomal amplification.'.
Hum Genet. 1980;56(1):59-62. doi: 10.1007/BF00281569.
3
Fluctuation of a clone 46,XX,i(7q) in bone marrow in a Fanconi anaemia.
Hum Genet. 1986 Sep;74(1):98-100. doi: 10.1007/BF00278794.
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