An atypical case of Fanconi anemia in elderly sibs

American Journal of Medical Genetics

Volumn 68, Issue 3, 1997, Pages 362-366

  Kwee, M L ^a,b,c,d   Van Der Kleij, J M ^a,b,d   Van Essen, A J ^a,b,c   Begeer, J H ^a,b,c,d   Joenje, H ^a   Arwert, F ^d   Ten Kate, L P ^a,b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c University Hospital ^*  (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

clinical variability; Fanconi anemia; genetic subtype; inherited aplastic anemia

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE CLASSIFICATION; FANCONI ANEMIA; FEMALE; HEARING IMPAIRMENT; HUMAN; LEUKOPENIA; MICROCEPHALY; PRIORITY JOURNAL; SHORT STATURE; THROMBOCYTOPENIA;

ANIMALS; CELL TRANSFORMATION, VIRAL; CRICETINAE; CRICETULUS; FANCONI ANEMIA; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; HYBRID CELLS; LYMPHOCYTES; MALE; MIDDLE AGED; MITOMYCIN;

POMACANTHUS MACULOSUS; RAPHIA FRATER;

EID: 0031050248     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970131)68:3<362::AID-AJMG21>3.0.CO;2-Q     Document Type: Article

References (15)

1. Alter BP, Potter NU (1983): Long term outcome in Fanconi's anemia. Description of 26 cases and review of the literature. In German J (ed): "Chromosome Mutation and Neoplasia." New York, Alan R. Liss, Inc., pp 43-62.
2. Arwert F, Rooimans MA, Westerveld A, Simons JWIM, Zdzienicka MZ (1991): The Chinese hamster cell mutant V-H4 is homologous to Fanconi anemia (complementation group A). Cytogenet Cell Genet 56:23-26.
3. Arwert F, Kwee ML (1989): Chromosomal breakage in response to cross-linking agents in the diagnosis of Fanconi anemia. In Schroeder-Kurth TM, Auerbach AD, Obe G (eds): "Fanconi Anemia. Clinical, Cytogenetic and Experimental Aspects." Berlin: Springer-Verlag, pp 83-92.
4. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD (1991): The need for more accurate and timely diagnosis in Fanconi anemia: A report from the International Fanconi Anemia Registry. Pediatrics 91:1116-1120.
5. Glanz A, Fräser FC (1982): Spectrum of anomalies in Fanconi anemia. J Med Genet 19:412-416.
6. Ishida R, Buchwald M (1982): Susceptibility of Fanconi's anemia lym-phoblasts to DNA-cross-linking and alkylating agents. Cancer Res 42:4000-4006.
7. Joenje H, Lo Ten Foe JR, Oostra AB, Van Berkel CGM, Rooimans MA, Schroeder-Kurth T, Wegner R-D, Gille JJP, Buchwald M, Arwert F (1995): Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype. Blood 86: 2156-2160.
8. Kennedy AW, Hart WR (1982): Multiple squamous-cell carcinomas in Fanconi's anemia. Cancer 50:811-814.
9. Kwee ML, Poll EHA, Kamp JJP vd, Koning JP de, Joenje H (1983): Unusual response to bifunctional alkylating agents in a case of Fanconi's anemia. Hum Genet 64:384-387.
10. Kwee ML, Kuyt LP (1989): Fanconi Anemia in the Netherlands. In Schroeder-Kurth TM, Auerbach AD, Obe G (eds): "Fanconi Anemia, Clinical, Cytogenetic and Experimental Aspects." Berlin: Springer-Verlag, pp 18-33.
11. Sasaki MS, Tonomura A (1973): A high susceptibility of Fanconi's anemia to chromosome breakage by DNA- crosslinking agents. Cancer Res 33:1829-1836.
12. Schroeder TM, Anschütz F, Knopp A (1964): Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. umangenetik 1: 194-196.
13. Strathdee CA, Duncan AMV, Buchwald M (1992a): Evidence for at least four Fanconi anemia genes including FACC on chromosome 9. Nat Genet 1:196-198.
14. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b): Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763.
15. Young NS, Alter BP (1994): Clinical Features of Fanconi's anemia. In "Aplastic Anemia Acquired and Inherited." New York: W.B. Saunders Company, pp 275-309.