[色素沉着性母斑病的遗传咨询难点]
[Difficulties in genetic counseling in phakomatosis].
作者信息
Francois J
出版信息
J Genet Hum. 1975 Mar;23(1):17-27.
PMID:809545
Abstract
It is often difficult to establish a valid pedigree in a family, a member of which shows one or another phakomatosis. It is indispensable to examine all the members of the family in order to detect the "formes frustes" or the atypical and abortive forms, which are frequent, and in order to establish a genetic prognosis and to give a genetic counseling, taking the penetrance into account.
摘要
在一个有成员患有某种错构瘤病的家族中，往往很难建立起有效的谱系。为了检测常见的“顿挫型”或非典型及不完全型病例，以及考虑到外显率来进行遗传预后评估和提供遗传咨询，对家族所有成员进行检查是必不可少的。
相似文献
1
[Difficulties in genetic counseling in phakomatosis].[色素沉着性母斑病的遗传咨询难点]
J Genet Hum. 1975 Mar;23(1):17-27.
2
[Ocular phakomatosis. Genetic and therapeutic considerations].[眼错构瘤病。遗传学及治疗方面的考量]
J Genet Hum. 1974 Sep;22(3):219-23.
3
[Phakomatoses. Ophthalmological and genetic aspects].[错构瘤病。眼科及遗传学方面]
J Genet Hum. 1975 Oct;23 SUPPL:193-209.
4
Genetic aspects of neurocutaneous disorders.神经皮肤疾病的遗传学方面。
Semin Pediatr Neurol. 2006 Mar;13(1):43-7. doi: 10.1016/j.spen.2006.01.010.
5
[A propos of 15 cases of phakomatoses].[关于15例错构瘤病]
J Genet Hum. 1975 Oct;23 SUPPL:235-7.
6
7
8
Tuberous sclerosis: clinical evaluation in a family and implications for genetic counseling.结节性硬化症：一个家庭的临床评估及对遗传咨询的意义
Genet Couns. 1998;9(2):131-8.
9
[Phacomatosis and genetically determined tumors: the transition from childhood to adulthood].[色素沉着息肉综合征与遗传性肿瘤：从儿童期到成年期的转变]
Neurochirurgie. 2008 Oct;54(5):642-53. doi: 10.1016/j.neuchi.2008.07.004. Epub 2008 Aug 26.
10
Penetrance and variability in neurofibromatosis: a genetic study of 60 families.
Birth Defects Orig Artic Ser. 1979;15(5B):271-81.
Zotero 插件