Early prenatal diagnosis of fanconi anaemia in a twin pregnancy, using DNA analysis

Prenatal Diagnosis

Volumn 16, Issue 4, 1996, Pages 345-348

  Kwee, M L ^a   Lo Ten Foe, J R ^b   Arwert, F ^b   Pals, G ^b   Madan, K ^a   Nieuwint, A ^a   In 'T Veld, P A ^c   Van Der Horst, A R ^d   Van Vugt, J M G ^e   Ten Kate, L P ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d CENTRAL LABORATORY   (Netherlands)

^e University Hospital   (Netherlands)

Author keywords

DNA analysis; Fanconi anaemia; Prenatal diagnosis

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; FANCONI ANEMIA; FEMALE; FETUS; GENE MUTATION; HETEROZYGOTE; HUMAN; KARYOTYPE; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TWIN PREGNANCY;

ADULT; AMNIOTIC FLUID; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETICS; DISEASES IN TWINS; DNA; FANCONI ANEMIA; FEMALE; HETEROZYGOTE; HISTOCOMPATIBILITY TESTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TWINS;

EID: 15844384628     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199604)16:4<345::AID-PD852>3.0.CO;2-9     Document Type: Article

References (15)

1. Auerbach, A.D., Adler, B., Chaganti, R.S.K. (1981). Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method, Pediatrics, 67, 128-135.
2. Auerbach, A.D., Sagi, M., Adler, B. (1985). Fanconi anemia: prenatal diagnosis in 30 fetuses at risk, Pediatrics, 76, 794-800.
3. Cervenka, J., Arthur, D., Yasis, C. (1981). Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia, Pediatrics, 67, 119-127.
4. Cotton, R.G.M. (1993). Current methods of mutation detection. Mutat. Res., 285, 125-144.
5. Gibson, R.A., Hajianpour, A., Murer-Orlando, M., Buchwald, M., Mathew, G.G. (1993). A nonsense mutation and exon skipping in the Fanconi anemia group C gene. Hum. Mol. Genet., 2, 797-799.
6. Gluckman, E., Broxmeyer, H.E., Auerbach, A.D., Friedman, H.S., Douglas, G.W., Devergie, A., Esperou, H., Thierry, D., Socie, G., Lehn, P., Cooper, S., English, D., Kurtzberg, J., Bard, J., Boyse, E.A. (1989). Hematopoietic reconstitution in a patient with Fanconi's anemia by means of umbilical-cord blood from an HLA-identical sibling,
7. Kohli-Kumar, M., Shahidi, N.T., Broxmeyer, H.E., Masterson, M., Delaat, C., Sambrano, J., Morris, C., Auerbach, A.D., Harris, R.E. (1993). Haemopoietic stem/progenitor cell transplant in Fanconi anemia using HLA-matched sibling umbilical cord blood cells, Br. J. Haematol., 85, 419-422.
8. Murer-Orlando, M., Llerena, J.C., Jr, Birjandi, F., Gibson, R.A., Mathew, C.G. (1993). FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia (Letter), Lancet, 342, 686.
9. Sasaki, M.S., Tonomura, A. (1973). A high susceptibility of Fanconi's anemia to chromosome breakage by DNA-crosslinking agents. Cancer Res., 33, 1829-1836.
10. Schroeder, T.M., Anschütz, F., Knopp, A. (1964). Spontane chromosome naberrationen bei familiärer Panmyelopathie, Humangenetik, 1, 194-196.
11. Shipley, J., Rodeck, C.H., Garrett, C., Galbraith, J., Giannelli, F. (1984). Mitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of Fanconi's anaemia, Prenat. Diagn., 4, 217-221.
12. Strathdee, C.A., Duncan, A.M.V., Buchwald, M. (1992a). Evidence for at least four Fanconi anemia genes including FACC on chromosome 9, Nature Genet., 1, 196-L98.
13. Strathdee, C.A., Gavish, H., Shannon, W.R., Buchwald, M. (1992b). Cloning of cDNAs for Fanconi anemia by functional complementation, Nature, 356, 763-767.
14. Verlander, P.C., Lin, J.D., Udono, M.U., Zhang, Q., Gibson, R.A., Mathew, C.G., Auerbach, A.D. (1994). Mutation analysis of the Fanconi anemia gene FACC, Am. J. Hum. Genet., 54, 595-601.
15. Whitney, M.A., Saito, H., Jakobs, P.M., Gibson, R A., Moses, R.E., Grompe, M. (1993). A common mutation in the FACC gene causes Fanconi anemia in Ashkenazi Jews, Nature Genet., 4, 202-205.