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Journal de genetique humaine最新文献

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[Steinert's disease (dystrophia myotonica). General review]. 斯坦纳氏病(肌强直性营养不良)。总复习)。
Journal de genetique humaine Pub Date : 1988-06-01
P Dodinval
{"title":"[Steinert's disease (dystrophia myotonica). General review].","authors":"P Dodinval","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>By comments of 9 tables the main clinical and genetic features of myotonic dystrophy are recalled. Due to a most variable penetrance and expressivity, the recognition of the adult form of this autosomal dominant disease can be difficult. Congenital myotonic dystrophy is a serious disease which represents a major genetic risk for the heterozygous women, which are often very slightly affected or even not aware of their disorder. For them, prenatal diagnosis is fully justified and now possible with a small risk of error by determination of DNA polymorphism. Preclinical detection in young adults can also be improved by this new method.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"207-19"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14177898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)]. [肌强直性营养不良症基因在魁北克Saguenay的传播]。
Journal de genetique humaine Pub Date : 1988-06-01
G Bouchard, R Roy, M Declos, K Kouladjian, J Mathieu
{"title":"[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)].","authors":"G Bouchard,&nbsp;R Roy,&nbsp;M Declos,&nbsp;K Kouladjian,&nbsp;J Mathieu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The prevalence of the myotonic dystrophy (Steinert disease) is about 1/475 in the Saguenay region, located in the North-east of the province of Québec (Canada). About 600 cases are currently known in a population of 285,000 inhabitants. This disease is an autosomal dominant disorder which causes a general muscular degeneration. Usually, it is also associated with a lower fertility, if not sterility, among the affected families. Another element of the phenotype is a higher infant mortality rate among cases. In the light of those traits, the very high prevalence of the disease in the Saguenay population becomes rather puzzling. It is the subject of this research. Using a computerized population register, we have been able to analyze the genealogies of the patients and their family history. In the overall, two basic factors account for the wide transmission of the gene: a) an immigration stream from a neighbouring region (Charlevoix) may have brought between 57 and 77 patients into the Saguenay since 1840; b) the cases proved to be by and large as fertile as controls (an average of 9.2 births among 85 affected families). The paper also presents a genealogical inference program used to ascertain cases among ancestors, along with data on the history of the gene, nuptiality, geographical and occupational mobility. In the overall, we have not been able to bring out an important selective disadvantage against the patients.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"221-37"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Association of Recklinghausen's disease, dental dystrophy and myopia in a Tunisian family]. [一个突尼斯家庭的雷克林豪森氏病、牙齿营养不良和近视的关系]。
Journal de genetique humaine Pub Date : 1988-06-01
H Chaabouni, R M'Rad, C F Younsi, A Ferchiou
{"title":"[Association of Recklinghausen's disease, dental dystrophy and myopia in a Tunisian family].","authors":"H Chaabouni,&nbsp;R M'Rad,&nbsp;C F Younsi,&nbsp;A Ferchiou","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors describe a tunisian family including ten patients with neurofibromatosis. Four case reports present dental anomalies (amelogenesis imperfecta) and three have myopia. The authors believe there is no clinical or genetical relation between neurofibromatosis and this dental dystrophia; but myopia may be a clinical expression of Recklinghausen disease.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"173-6"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14267743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Marfan disease]. (马凡氏症)。
Journal de genetique humaine Pub Date : 1988-06-01
M L Briard, M L Chauvet, J Kaplan
{"title":"[Marfan disease].","authors":"M L Briard,&nbsp;M L Chauvet,&nbsp;J Kaplan","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>After reviewing the main features of the Marfan syndrome (musculoskeletal, ocular, cardiovascular, pulmonary abnormalities), its autosomal dominant inheritance with high penetrance but variable phenotype and presence of \"soft\" conditions preventing an easy diagnosis, the authors report their own data relevant to 73 probands: ratio of each clinical manifestation, state of 34% of familial cases and display of a paternal age effect in the sporadic cases. The pathogenic defect is unknown as like the location of the gene. The difficulties of the genetic counseling are then approached: unpredictability of the severity and of the prognosis in the unborn children of an affected patient, benefit of the echocardiography in the management of people at risk.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"239-45"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Bourneville's tuberous sclerosis and genetic counseling. Study of 36 families]. 伯纳维尔结节性硬化症和遗传咨询。36个家庭的研究]。
Journal de genetique humaine Pub Date : 1988-06-01
A David, M L Briard
{"title":"[Bourneville's tuberous sclerosis and genetic counseling. Study of 36 families].","authors":"A David,&nbsp;M L Briard","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>From their own experience, the authors grapple with the difficulties of the genetic counselling in the tuberous sclerosis. They dwell on the necessity of undertaking a very full assessment in the parents of the apparently isolated cases. It includes skin examination, fundoscopy, cranial CT scanning, renal imaging and echocardiography. After these investigations which may need to be done to make or to exclude the diagnosis, it will be possible to quantify new mutations. Nevertheless the exceptional description of pedigrees with incomplete penetrance cannot be forgotten for the genetic counselling. It is likely however that most of these problems will not be resolved until accurate genetic markers are obtained.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"201-6"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Bourneville's tuberous sclerosis]. [伯纳维尔结节性硬化]。
Journal de genetique humaine Pub Date : 1988-06-01
M Pierson, B Leheup
{"title":"[Bourneville's tuberous sclerosis].","authors":"M Pierson,&nbsp;B Leheup","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Among the group of hereditary histodysplasia, Bourneville's tuberous sclerosis demonstrate original and important place. Its clinical and histopathological polymorphism make more difficult the diagnosis because many symptoms are non specific and/or appeared at different age of life. The variability of the expression and of the penetrance are a very serious unpeachement for the genetic counselling. A recent reevaluation of several series of case reports seems to demonstrate that the frequency of new mutations has been probably surestimated. The gene location in 9q3-4 is quite certain and will induce soon the possibility of a more efficient prenatal diagnosis. The gene action mechanism at the embryonic development is probably correlated with the \"oncogene character\" of the specific mutation.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"181-99"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14177897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The Recklinghausen model: innumerable phenotypes and scarce genotypes]. [Recklinghausen模型:无数的表型和稀缺的基因型]。
Journal de genetique humaine Pub Date : 1988-06-01
J M Robert
{"title":"[The Recklinghausen model: innumerable phenotypes and scarce genotypes].","authors":"J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Since several decades, clinical reports about neurofibromatosis are overwhelming general practitioners, neurologists and other specialists. Since some years cellular biology (specially experimental studies on the neural crest) and molecular genetics light up somewhat the contrast between innumerable phenotypes and the rare punctual mutations which are at the source of the disease. The author reviews the different theories which are attempting to explain the process of malignant transformation in these kinds of diseases (role of eventual oncogenes and recent experiment types of Hinrichs in transgenic mice).</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"147-61"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14267741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families]. 神经纤维瘤病的遗传咨询。一项针对53个家庭的研究]。
Journal de genetique humaine Pub Date : 1988-06-01
A Toutain, J Kaplan, M L Briard, J Frézal
{"title":"[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families].","authors":"A Toutain,&nbsp;J Kaplan,&nbsp;M L Briard,&nbsp;J Frézal","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Referring to a retrospective study of 53 families affected with neurofibromatosis and seen in genetic consultation from January 1977 to September 1987, the authors emphasize the difficulties of genetic counselling in this disease due to its variable expressivity with unforeseeable natural evolution and to the difficulty in detecting minor forms without biological markers. These results confirm previous studies (Carey 1979, Riccardi 1981): About half the cases are relevant to a neomutation and in these sporadic cases, the average paternal age is significantly increased (36.7 years). In familial cases, an intrafamilial variable expressivity is noted in 63.3% of families and no maternal effect is found. The penetrance of the disease, calculated from the familial cases, is estimated to 97% which confirmed the anterior data. The severe forms rate (grades III and IV) is about the same for familial cases, than in previous publications, but is higher for sporadic cases than the proportion described by Riccardi (25 to 30%) probably because of an ascertainment bias. Finally, If the risk for the offspring of an affected patient can be estimated at 1/2, however it is impossible to predict the severity of the disease. Before concluding to a neomutation (1st child of a couple) or to an absence of genetic risk (non affected person related to a familial case), a minor form must be searched by a careful physical examination, although the recent localization of the gene allows us to think of molecular biology for familial studies in a near future.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"163-71"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14267742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[The Ehlers-Danlos and Marfan syndromes in young children]. [幼儿的Ehlers-Danlos和Marfan综合征]。
Journal de genetique humaine Pub Date : 1988-06-01
A De Paepe, H Van den Bossche, G Mortier, M Matton
{"title":"[The Ehlers-Danlos and Marfan syndromes in young children].","authors":"A De Paepe,&nbsp;H Van den Bossche,&nbsp;G Mortier,&nbsp;M Matton","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Early diagnosis of Ehlers-Danlos and Marfan syndromes in children is illustrated by personal case histories. EDS type IV was suspected in a 3 years old child on the basis of minor clinical signs with positive familial history. Detection of a collagen type III defect in cultured skin fibroblasts confirmed the diagnosis. Using a restriction site polymorphism associated with the structural gene for human type III collagen (COL3A1), tight linkage was found between the polymorphic allele and the clinical expression of the disease. The diagnosis of Marfan syndrome was suspected in a 12 years old girl and her 2 years old brother on the basis of major clinical signs and confirmed after measurement of body proportions and echographic examination. Further biochemical and molecular investigations were not informative. The new therapeutic perspectives in the two syndromes are briefly discussed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"247-53"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Evaluation of the risk in autosomal dominant diseases]. 【常染色体显性遗传病的风险评估】。
Journal de genetique humaine Pub Date : 1988-06-01
J Kaplan, A Toutain, M L Briard, J Frézal
{"title":"[Evaluation of the risk in autosomal dominant diseases].","authors":"J Kaplan,&nbsp;A Toutain,&nbsp;M L Briard,&nbsp;J Frézal","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A lot of traps and difficulties complicate the estimation of a genetic risk in the autosomal dominant diseases. The authors recapitulate the notions of mutation, penetrance and variability and illustrate by some examples the part of each of them, isolated or associated together. The increasing of molecular biology allows to resolve some of these problems, but generate new dangers which are analysed and illustrated.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"265-74"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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