Age at onset and life table risks in genetic counselling for Huntington's disease.
作者信息
Harper P S, Newcombe R G
机构信息
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
出版信息
J Med Genet. 1992 Apr;29(4):239-42. doi: 10.1136/jmg.29.4.239.
Abstract
Age related genetic risk data for carrying the gene for Huntington's disease in relatives at risk, based on a previously documented life table approach, are presented in a form allowing ready access for use in genetic counselling. Figures are given for first degree relatives and for second degree relatives showing varying age combinations of consultand and intervening parent at risk. Data are also given for the risk of developing Huntington's disease over varying finite periods in relation to age. The availability of this information in tabular form should help those involved in genetic counselling for this disorder in providing accurate risk estimates to relatives; the data are also of importance for combination with genotype information in predictive testing.
摘要
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本文引用的文献
1
Outlook for a clinically normal child in a sibship with congenital myotonic dystrophy.
J Pediatr. 1983 Nov;103(5):762-3. doi: 10.1016/s0022-3476(83)80480-6.
2
Huntington's Chorea in South Wales. A genetic and epidemiological study.
Clin Genet. 1981 Apr;19(4):213-21. doi: 10.1111/j.1399-0004.1981.tb00701.x.
3
Huntington disease: genetics and epidemiology.
Am J Hum Genet. 1984 May;36(3):506-26.
4
Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity.
Ann Hum Genet. 1983 Jul;47(3):205-14. doi: 10.1111/j.1469-1809.1983.tb00989.x.
5
Huntington's chorea in South Wales: mutation, fertility, and genetic fitness.
J Med Genet. 1983 Feb;20(1):12-7. doi: 10.1136/jmg.20.1.12.
6
Factors influencing age at onset and duration of survival in Huntington's chorea.
Ann Hum Genet. 1981 Oct;45(4):387-96. doi: 10.1111/j.1469-1809.1981.tb00352.x.
7
A life table for onset of Huntington's chorea.
Ann Hum Genet. 1981 Oct;45(4):375-85. doi: 10.1111/j.1469-1809.1981.tb00351.x.
8
Huntington disease in Georgia: age at onset.
Am J Hum Genet. 1988 Nov;43(5):695-704.
9
Age of onset in siblings of persons with juvenile Huntington disease.
Clin Genet. 1985 Aug;28(2):100-5. doi: 10.1111/j.1399-0004.1985.tb00367.x.
10
Problems in genetic prediction for Huntington's disease.
Lancet. 1989 Sep 9;2(8663):601-3. doi: 10.1016/s0140-6736(89)90721-6.
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