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J Med Genet. 1993 Jan;30(1):44-6. doi: 10.1136/jmg.30.1.44.
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Insights From Genetic Studies of Cerebral Palsy.脑瘫遗传学研究的见解
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本文引用的文献

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A survey of 400 cases of cerebral palsy in childhood.一项针对400例儿童脑瘫病例的调查。
Arch Dis Child. 1950 Dec;25(124):360-79. doi: 10.1136/adc.25.124.360.
2
Familial cerebral palsy.家族性脑瘫
J Chronic Dis. 1961 Mar;13:207-14. doi: 10.1016/0021-9681(61)90077-7.
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Parental age and mutation.父母年龄与突变
Lancet. 1955 Aug 13;269(6885):312-3. doi: 10.1016/s0140-6736(55)92305-9.
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Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences.
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Dyskinetic cerebral palsy. II. Pathogenetic risk factors and intra-uterine growth.
Acta Paediatr Scand. 1982 Jul;71(4):551-8. doi: 10.1111/j.1651-2227.1982.tb09473.x.
6
The athetoid syndrome. A review of a personal series.手足徐动症综合征。个人病例系列回顾。
J Neurol Neurosurg Psychiatry. 1983 Apr;46(4):289-98. doi: 10.1136/jnnp.46.4.289.
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Sex-linked spastic paraplegia.性连锁痉挛性截瘫
Am J Ment Defic. 1966 Jul;71(1):13-8.
8
Note on the estimation of parental age effects.
Ann Hum Genet. 1972 Mar;35(3):337-42. doi: 10.1111/j.1469-1809.1957.tb01407.x.
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Genetic syndromes associated with cerebral palsy.与脑瘫相关的遗传综合征。
Clin Orthop Relat Res. 1974 Mar-Apr(99):2-11. doi: 10.1097/00003086-197403000-00001.
10
Antecedents of cerebral palsy. Multivariate analysis of risk.脑瘫的前驱因素。风险的多变量分析。
N Engl J Med. 1986 Jul 10;315(2):81-6. doi: 10.1056/NEJM198607103150202.

父母年龄、基因突变与脑瘫。

Parental age, genetic mutation, and cerebral palsy.

作者信息

Fletcher N A, Foley J

机构信息

Department of Neurological Sciences, St Bartholomew's Hospital, London.

出版信息

J Med Genet. 1993 Jan;30(1):44-6. doi: 10.1136/jmg.30.1.44.

DOI:10.1136/jmg.30.1.44
PMID:8423607
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016233/
Abstract

Parental age and birth order were studied in 251 patients with cerebral palsy. No parental age or birth order effects were observed in spastic quadriplegia or diplegia, but a paternal age effect was detected in those with athetoid/dystonic cerebral palsy and congenital hemiplegia. These observations indicate that some cases of athetoid/dystonic or hemiplegic cerebral palsy might arise by fresh dominant genetic mutation.

摘要

对251例脑瘫患者的父母年龄和出生顺序进行了研究。在痉挛性四肢瘫或双瘫患者中未观察到父母年龄或出生顺序的影响,但在手足徐动型/张力障碍型脑瘫和先天性偏瘫患者中发现了父亲年龄的影响。这些观察结果表明,一些手足徐动型/张力障碍型或偏瘫型脑瘫病例可能是由新的显性基因突变引起的。