Original language | English |
---|---|
Pages (from-to) | 120-121 |
Number of pages | 2 |
Journal | The Lancet |
Volume | 339 |
Issue number | 8785 |
DOIs | |
State | Published - 11 Jan 1992 |
Funding
Funders | Funder number |
---|---|
Generalitat de Catalunya |
Access to Document
Other files and links
Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver
}
In: The Lancet, Vol. 339, No. 8785, 11.01.1992, p. 120-121.
Research output: Contribution to journal › Letter › peer-review
TY - JOUR
T1 - Prophylactic platelet transfusion in acute leukaemia
AU - Murphy, W. G.
AU - Seymour, John
AU - Gmür, J.
AU - Schaffner, A.
AU - Ben-Bassat, Isaac
AU - Ramot, Bracha
N1 - Funding Information: polymorphisms gave complete informativity for the family. The fetus and healthy son have inherited the same allele from the mother, but a different allele from the father (figure). To calculate the risk of the fetus being affected we have to assume that by age 5 years several features of the disease are already well developed (ie, café-au-lait spots and Lisch nodules). Penetrance (P), estimated to be 95 %,6 must also be taken into account. Although we have no data on the recombination frequency within the NF gene, the information on flanking markers and the size of the NFl gene (about 300 kb) suggest a frequency of recombination (8) in the range of 0 60’003 between this intragenic marker and the NF1 mutation in this family. By bayesian calculations the probability of the fetus being affected is: P (1-P [ 1-2&thgr; + 282]) = (2-P) _ < 005. NF1 can thus be diagnosed prenatally not only in families with more than one affected individual but also in cases with a healthy child of an affected family member. Because in most cases of NF1 the mutation will be unknown, the Alu repeat polymorphism improves considerably the diagnostic possibilities for NFl. We thank Dr M. Molina for referring patients. Supported by Fondo the Investigaciones de la Seguridad Social (92/0532). C. L. has a fellowship from the Department d’Ensenyament de la Generalitat de Catalunya.
PY - 1992/1/11
Y1 - 1992/1/11
UR - http://www.scopus.com/inward/record.url?scp=0026500547&partnerID=8YFLogxK
U2 - 10.1016/0140-6736(92)91025-4
DO - 10.1016/0140-6736(92)91025-4
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.letter???
AN - SCOPUS:0026500547
SN - 0140-6736
VL - 339
SP - 120
EP - 121
JO - The Lancet
JF - The Lancet
IS - 8785
ER -