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Journal de genetique humaine最新文献

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[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy]. [杜氏肌营养不良症外显子扩增检测缺失(多重PCR)]。
Journal de genetique humaine Pub Date : 1989-09-01
M Claustres, P Kjellberg, M Desgeorges, H Bellet, P Sarda, H Bonnet, C Boileau
{"title":"[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].","authors":"M Claustres,&nbsp;P Kjellberg,&nbsp;M Desgeorges,&nbsp;H Bellet,&nbsp;P Sarda,&nbsp;H Bonnet,&nbsp;C Boileau","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The polymerase chain reaction is a new powerful method for in vitro cloning of specific regions of DNA. The use of the heat-stable DNA polymerase made the reaction amenable to automation. This method greatly facilitates the detection of mutations which are responsible for Duchenne muscular dystrophy, via DNA amplification of multiple deletions prone exons from the DMD gene.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"251-7"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767153","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
[DNA amplification in the study of polymorphisms linked to the cystic fibrosis gene]. [DNA扩增在囊性纤维化基因多态性研究中的应用]。
Journal de genetique humaine Pub Date : 1989-09-01
M Claustres, H Bellet, M Desgeorges, P Kjellberg, M F Toueri, B Rollin, H Bonnet
{"title":"[DNA amplification in the study of polymorphisms linked to the cystic fibrosis gene].","authors":"M Claustres,&nbsp;H Bellet,&nbsp;M Desgeorges,&nbsp;P Kjellberg,&nbsp;M F Toueri,&nbsp;B Rollin,&nbsp;H Bonnet","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The highly specific polymerase chain reaction recently described can be used to amplify selectively several polymorphic regions of DNA genetically close to the cystic fibrosis gene. This method, providing automated, revolutionizes the classical methods of prenatal diagnosis and carrier detection.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"243-9"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13719688","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 new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. [一个新的亚致死综合征与多发性畸形相关膈疝，远指发育不全，颅面异常。]“弗林综合症”]。
Journal de genetique humaine Pub Date : 1989-09-01
J P Fryns, P Moerman, H Van den Berghe, S Aymé
{"title":"[A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The \"Fryns syndrome\"].","authors":"J P Fryns,&nbsp;P Moerman,&nbsp;H Van den Berghe,&nbsp;S Aymé","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"203-5"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767148","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
[Biochemical and ultrastructural study of two familial cases of Winchester syndrome]. [2例家族性温彻斯特综合征的生化和超微结构研究]。
Journal de genetique humaine Pub Date : 1989-09-01
J C Lambert, J Y Jaffray, J C Michalski, J P Ortonne, V Paquis, A M Saunières
{"title":"[Biochemical and ultrastructural study of two familial cases of Winchester syndrome].","authors":"J C Lambert,&nbsp;J Y Jaffray,&nbsp;J C Michalski,&nbsp;J P Ortonne,&nbsp;V Paquis,&nbsp;A M Saunières","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two new familial cases of Winchester syndrome with the characteristic features allowed to be more explicit on a few data of this syndrome. As reported in a previous paper an abnormal oligosaccharide was detected in urine of patients but the pathological significance of this oligosaccharide must be discussed and its finding in patients with Winchester syndrome does not lead to further elucidation of the aetiology of this condition. Cultured fibroblasts were obtained from a skin biopsy performed in thickened area. These cells had a normal level of the hydrolases studied whereas they showed ultrastructural abnormalities with numerous secondary lysosomes and pseudomyelinic figures.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"231-6"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767151","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
[Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year]. [12p四体病(Pallister-Killian综合征):可能在一岁前诊断]。
Journal de genetique humaine Pub Date : 1989-09-01
K Chrzanowska, J P Fryns
{"title":"[Tetrasomy 12p (Pallister-Killian syndrome): possible diagnosis before the age of a year].","authors":"K Chrzanowska,&nbsp;J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In this short report we present a 1 year old female child with tetrasomy 12p (Pallister-Killian syndrome) and emphasize the importance of the recognition of the dysmorphic stigmata of this MR/MCA syndrome.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"259-61"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767154","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
[Prenatal diagnosis of a translocation (X;Y) and genetic counseling]. [产前诊断易位(X;Y)和遗传咨询]。
Journal de genetique humaine Pub Date : 1989-09-01
H Stora-de Novion, C Petit, S Raynaud, N Ayraud
{"title":"[Prenatal diagnosis of a translocation (X;Y) and genetic counseling].","authors":"H Stora-de Novion,&nbsp;C Petit,&nbsp;S Raynaud,&nbsp;N Ayraud","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A cytogenetic prenatal diagnosis due to maternal age led us to find a male fetus with a (X;Y) translocation. This translocation is found in the mother, who presents no phenotypic abnormalities or mental retardation. The 22 cases described in the literature indicate that among male carriers of an (X;Y) translocation, half the cases present mental retardation and 2/3 phenotypic anomalies. These findings led us to give a genetic counselling of therapeutic abortion. Post mortem histological examination revealed no morphodysplasia.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"263-7"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767155","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 familial case of multiple endocrine neoplasia (MEN IIb). Diagnosis of medullary thyroid cancer]. 家族性多发性内分泌肿瘤1例(MEN IIb)。甲状腺髓样癌的诊断。
Journal de genetique humaine Pub Date : 1989-09-01
P Rochiccioli, M T Tauber, C Pienkowski
{"title":"[A familial case of multiple endocrine neoplasia (MEN IIb). Diagnosis of medullary thyroid cancer].","authors":"P Rochiccioli,&nbsp;M T Tauber,&nbsp;C Pienkowski","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The familial observations of multiple endocrine neoplasia are rare such that there are only four known cases in France. In our family, two children and their mother are affected. Their mother, at the age of 16, was operated on a medullary thyroid cancer (MTC) and now presents with a phaeochromocytoma. Vanessa also presents with a MTC but without either phaeochromocytoma nor hyperparathyroidism. Her sister was then systematically screened and the only positive test was Pentagastrin. This allowed us to practice a thyroidectomy which will confirm the presence of a medullary thyroid cancer. In all three cases, the Marfan-like features, the abnormal facies and lingual neuromas are all features of the disease. These observations are of interest for the systemic familial screening of MTC by tumour markers (calcitonin, ACE) and by the Pentagastrin test, while awaiting for the use of specific probes on chromosome 10.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"207-14"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13719687","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 "new" epi-metaphyseal skeletal dysplasia in four members of a family. 在一个家庭的四名成员中发现一种“新的”外干骺端骨骼发育不良。
Journal de genetique humaine Pub Date : 1989-09-01
J P Fryns, F De Bisschop, H Van den Berghe
{"title":"A \"new\" epi-metaphyseal skeletal dysplasia in four members of a family.","authors":"J P Fryns,&nbsp;F De Bisschop,&nbsp;H Van den Berghe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In this report we present the clinical and radiological findings of an epimetaphyseal skeletal dysplasia affecting four members of the same family. Autosomal dominant inheritance with almost identical expression in all affected patients is documented. In addition to axial deviations of the lower limbs they all present coxarthrosis at young age, disproportionate short stature, identical facial stigmata and typical anomalies of hands and feet.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"237-41"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767152","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
[Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)]. 平衡的x常染色体易位与智力低下。绘制与X相关的智力迟钝(不包括脆弱的X)]。
Journal de genetique humaine Pub Date : 1989-09-01
M Teboul, P Mujica, M Chery, B Leotard, S Gilgenkrantz
{"title":"[Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)].","authors":"M Teboul,&nbsp;P Mujica,&nbsp;M Chery,&nbsp;B Leotard,&nbsp;S Gilgenkrantz","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>From personal observations and reported cases of translocation X-Autosome, a study of the breakpoint showed that Xp11 is more frequently associated to mental retardation. This finding is in agreement with linkage analysis in families with X-linked mental retardation non X-fra.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"179-95"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767147","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
[Level of alpha-fetoprotein in maternal serum before and after chorionic villus sampling]. [绒毛膜绒毛取样前后母体血清甲胎蛋白水平]。
Journal de genetique humaine Pub Date : 1989-09-01
S Guibaud, C Boisson, M Karras, I M Thoulon
{"title":"[Level of alpha-fetoprotein in maternal serum before and after chorionic villus sampling].","authors":"S Guibaud,&nbsp;C Boisson,&nbsp;M Karras,&nbsp;I M Thoulon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>To evaluate incidence and severity of feto-maternal transfusion post-chorionic villus sampling (CVS), maternal serum AFP (MSAFP) were determined for 88 patients before and 15 minutes after CVS. To know whether MSAFP elevation could have clinical implications, a questionnaire was sent to the patients researching if they have had haemorrhages, temperature, spontaneous abortion or premature delivery in the period post CVS. Results of the present study indicate that 44.7% of patients present MSAFP significative elevation (greater than or equal to 8 micrograms/l), a variable elevation (from 8 to 423 micrograms/l). There is no relation between MSAFP elevation and unfavourable events post CVS.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"197-202"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13628340","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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