Cell cycle analysis in the diagnosis of Fanconi's anemia.

نویسندگان

  • T Fabio
  • N Crescenzio
  • P Saracco
  • L Leone
  • G Ponzio
  • U Ramenghi
چکیده

Haematologica vol. 85(4):April 2000 3. Simsek S, Faber NM, Bleeker PM, et al. Determination of human platelet antigen frequencies in the Dutch population by immunophenotyping and DNA (allele-specific restriction enzyme) analysis. Blood 1993; 81:835-40. 4. Tazzari PL, Cirillo D, Bontadini A, Ricci F, Masi R, Conte R. Flow cytometry immunophenotyping and polymerase chain reaction-site-specific primers genotyping for HPA-1 alloantigens in an Italian blood donor population. Vox Sang 1998;74:42-5. 5. Borzini P. Phenotype frequency of platelet HPA-1 antigen in a group of Italian blood donors. Haematologica 1991; 76:347. 6. McCullough J, Clay ME, Stroncek DF. Granulocyte alloantigen systems and their clinical significance. In: Nance ST, ed. Alloimmunity: 1993 and beyond. Bethesda, MD: American Association of Blood Banks, 1993; p. 49-82. 7. Bux J, Stein EL, Santoso S, Mueller-Eckhardt C. NA gene frequencies in the German population, determined by polymerase chain reaction with sequence– specific primers. Transfusion 1995; 35:54-7. 8. Chang YW, Mytilineos J, Opelz G, Hawkins BR. Distribution of human platelet antigens in a Chinese population. Tissue Antigens 1998; 51:391-3. 9. Lin M, Chen CC, Wang CL, Lee HL. Frequencies of neutrophil-specific antigens among Chinese in Taiwan. Vox Sang 1994; 66:247.

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Abnormally high levels of spontaneous and mitomycin C or diepoxybutane induced chromosome breakage were observed in lymphocytes from eight out of nine previously undescribed patients clinically diagnosed as having Fanconi's anaemia. The results suggest that the combination of spontaneous and induced chromosome breakage is a good aid in the differential diagnosis and we suggest that increased ch...

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Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic leukemia (ANLL). A third sibling had previously died at age 11 of apparent sepsis. Both sisters had cytogenetic studies that showed increased chromosomal breakage and a 46,XX karyotype, but subsequently developed ANLL after, or coincident with, the emergence of monosomy 7. ...

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عنوان ژورنال:
  • Haematologica

دوره 85 4  شماره 

صفحات  -

تاریخ انتشار 2000