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Journal de genetique humaine最新文献

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[Genetic counseling on a molecular basis for Huntington's chorea]. [亨廷顿舞蹈病分子基础的遗传咨询]。
Journal de genetique humaine Pub Date : 1989-01-01
J J Cassiman
{"title":"[Genetic counseling on a molecular basis for Huntington's chorea].","authors":"J J Cassiman","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The gene responsible for Huntington Disease has been mapped at the end of the short arm of chromosome 4. Different polymorphic probes from the immediate vicinity of the gene are available and provide accurate tools for the identification of carriers of the gene. The presymptomatic testing of adults or the prenatal testing (exclusion testing) of the unborn child must be considered with great caution, it requires a multidisciplinary approach and will benefit from intensive collaboration with the lay organizations. Presymptomatic testing will presumably find a much wider application when it can be coupled to an effective preventive treatment.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"13-24"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13708360","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
[Collaboration between child psychiatry and medical genetics. Genetic diseases with an atypical beginning]. 儿童精神病学与医学遗传学的合作。具有非典型开端的遗传性疾病]。
Journal de genetique humaine Pub Date : 1989-01-01
M Brenot, C Houdiard, G Couillault, J L Nivelon, A Nivelon
{"title":"[Collaboration between child psychiatry and medical genetics. Genetic diseases with an atypical beginning].","authors":"M Brenot,&nbsp;C Houdiard,&nbsp;G Couillault,&nbsp;J L Nivelon,&nbsp;A Nivelon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>When a children psychiatrist, faced to atypical psychological troubles, comes up against difficulties in establishing a precise diagnosis, he may consider a genetic etiology and ask for a genetic consultation. He may encounter many problems when he suggests this specialized consultation to the parents. These have often been prepared for a long time to the necessity of a psychiatric therapy in order to cure their child's troubles. The geneticist's diagnosis will induce the parents and the psychiatrist to have a different look on the child and mostly will set limits to the possibilities of treatment.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"25-8"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856016","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
[Results of pregnancies characterized by a decrease in the level of alpha-fetoprotein in the maternal blood]. [以母体血液中甲胎蛋白水平降低为特征的妊娠结果]。
Journal de genetique humaine Pub Date : 1989-01-01
S Guibaud, C Boisson, A Simplot, J M Thoulon, P Guibaud, J M Robert
{"title":"[Results of pregnancies characterized by a decrease in the level of alpha-fetoprotein in the maternal blood].","authors":"S Guibaud,&nbsp;C Boisson,&nbsp;A Simplot,&nbsp;J M Thoulon,&nbsp;P Guibaud,&nbsp;J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Pregnancy outcome was followed in 123 women showing maternal serum alpha-fetoprotein, less than or equal to 0.50 MOM. In 28 cases AFP was secondarily considered as normal either after ultrasonography and correction of gestation age or after a second sample normal result. In 95 cases AFP level was confirmed lowered; perinatal outcome was normal in 70 cases and abnormal in 25. Among these 25 cases, 3 autosomal trisomies occurred, 2 trisomies 18 and 1 trisomy 21; in the 22 other cases, we observed antepartum risk factors (10 cases with impending premature labor or premature labor, 9 cases with chronic hypertension, 2 cases with Ag HBs hepatitis and 1 case with diabetes).</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"71-5"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13615140","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
[Myotonic dystrophy of Steinert]. [肌强直性营养不良]。
Journal de genetique humaine Pub Date : 1989-01-01
C Junien
{"title":"[Myotonic dystrophy of Steinert].","authors":"C Junien","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The gene for myotonic dystrophy maps to 19q13.2----19q13.3. The closest proximal marker is the gene for creatine kinase CKMM at a recombination faction of 0-2%. Prenatal diagnosis will be performed with a minimal risk when a distal closer to the gene is available.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"51-4"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13708362","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
[Psychological implications of family studies by molecular biology. An example--muscular dystrophy]. [分子生物学对家庭研究的心理影响。]举个例子——肌肉萎缩症。
Journal de genetique humaine Pub Date : 1989-01-01
J Y Hayez, C Verellen-Dumoulin
{"title":"[Psychological implications of family studies by molecular biology. An example--muscular dystrophy].","authors":"J Y Hayez,&nbsp;C Verellen-Dumoulin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A dialogue between a geneticist and a M.D. trained in medical psychology has been established about problems arising in genetic counselling. A better knowledge of themselves allows them to increase the quality of genetic counselling by improving the communication techniques. The whole personality and not only the genetic disease of the individuals seeking genetic counselling is taken into account during the counselling process.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"29-38"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856017","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
[Chondrodysplasia punctata. Report of four cases in two sibships]. (软骨发育异常punctata。报告两名兄弟姐妹中有4例病例]。
Journal de genetique humaine Pub Date : 1988-12-01
P Parent, A Le Gonidec, H Le Guern, M Thomas, L Toudic, M Bellet, Y Castel
{"title":"[Chondrodysplasia punctata. Report of four cases in two sibships].","authors":"P Parent,&nbsp;A Le Gonidec,&nbsp;H Le Guern,&nbsp;M Thomas,&nbsp;L Toudic,&nbsp;M Bellet,&nbsp;Y Castel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Chondrodysplasia punctata has very diverse clinical and radiological features. Its diagnosis may be suggested as early as in the neonatal period in front of an abnormal facial appearance, sometimes associated with bone and vertebrae defects. Radiological exams will assert it. Its subsequent course depends on the accompanying visceral abnormalities. Genetics advice is closely related to these. Ultrasonography is the only actual possibility of prenatal diagnosis. However our attitude must be guided by the clinical course (of the disease) of the initial case in the sibship.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"475-84"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345530","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
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy]. 瓣上主动脉狭窄。常染色体显性遗传性先天性心脏病]。
Journal de genetique humaine Pub Date : 1988-12-01
G Pierquin, A Vliers, P Dodinval
{"title":"[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].","authors":"G Pierquin,&nbsp;A Vliers,&nbsp;P Dodinval","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We describe a family in which two generations are affected: two brothers and one of their maternal uncles. One of their two half-sisters (same mother) is also suspected of having the same cardiopathy. This observation confirms the autosomal dominant transmission of the disease and shows its variable expressivity in the family under study.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"485-9"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345531","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
[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?]. [前脑畸形、多指畸形、心脏病:新综合征还是新病例?]
Journal de genetique humaine Pub Date : 1988-12-01
S A André, M P Cordier, A M Beaufrère, M Guillaud, J M Robert
{"title":"[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?].","authors":"S A André,&nbsp;M P Cordier,&nbsp;A M Beaufrère,&nbsp;M Guillaud,&nbsp;J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We present a foetus, 46,XY, with holoprosencephaly, hydrocephaly, unilateral lower limb post axial polydactyly, clubhands, auricular septal defect, umbilical cord hernia. The differential diagnosis of the condition is discussed: especially the hydrolethalus syndrome, and the Young and Madders' syndrome reported in 1987.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"463-8"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345528","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
[A case of terminal renal insufficiency revealing a "charge" association in an adult]. [成人终末期肾功能不全一例显示“电荷”关联]。
Journal de genetique humaine Pub Date : 1988-12-01
E Renoult, D Sirbat, M Kessler
{"title":"[A case of terminal renal insufficiency revealing a \"charge\" association in an adult].","authors":"E Renoult,&nbsp;D Sirbat,&nbsp;M Kessler","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>A case report: </strong>Different abnormalities suggesting a \"Charge\" association were recognized in a 23-year-old man, as an end-stage renal disease was discovered. Though its undetermined cause(s), this association needs to be evoked in order to detect and to manage occult visceral anomalies and to evaluate for a familial form.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"469-73"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345529","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
[About sirens]. (对警报)。
Journal de genetique humaine Pub Date : 1988-12-01
B Duhamel
{"title":"[About sirens].","authors":"B Duhamel","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"491-500"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345532","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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