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Clinical and Cytogenetic Observations During a Six-year Period in an Adult with Fanconi's Anaemia

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Journal Blut
Specialty Hematology
Date 1977 Feb 1
PMID 836967
Citations 12
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Abstract

A male adult patient suffering from Fanconi's anemia is described who was diagnosed 5 years before the onset of clinical symptoms by cytogenetic findings of chromosomeinstability in a lymphocyte culture. Repeated clinical, haematological and biochemical investigations of the untreated patient have been made during the observation period of six years. In the same period of time cytogenetic studies have been carried out which show no correlation in results compared with the clinical or physical findings. Four well defined lymphocyte clones have been discovered. The patient is still under observation of the clinic and the cytogenetic department.

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References
1.
Gmyrek D, WITKOWSKI R, Jacobasch G . [Chromosomal aberrations and metabolic disorders of blood cells in Fanconi's anemia before and after transformation into leukosis as exemplified in a patient]. Dtsch Med Wochenschr. 1967; 92(38):1701-7. DOI: 10.1055/s-0028-1106028. View

2.
SCHROEDER T . [Cytogenetic finding and etiology of Fanconi's anemia. A case of Fanconi's anemia without hexokinase deficiency]. Humangenetik. 1966; 3(1):76-81. DOI: 10.1007/BF00273021. View

3.
German J, Archibald R, Bloom D . CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN. Science. 1965; 148(3669):506-7. DOI: 10.1126/science.148.3669.506. View

4.
SCHROEDER T, Kurth R . Spontaneous chromosomal breakage and high incidence of leukemia in inherited disease. Blood. 1971; 37(1):96-112. View

5.
Gmyrek D, SYLLM-RAPOPORT I . [ON FANCONI'S ANEMIA. ANALYSIS OF 129 CASES]. Z Kinderheilkd. 1964; 91:297-337. View