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Journal de genetique humaine最新文献

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[Proceedings of the 15th European Congress of Genetic Counseling. Ajaccio, 14-17 September 1989. Proceedings]. 第15届欧洲遗传咨询大会论文集。阿雅克肖，1989年9月14日至17日。程序)。
Journal de genetique humaine Pub Date : 1989-09-01
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引用次数: 0
[A family with x-linked hydrocephaly followed for 20 years: echographic prenatal diagnosis; elective abortion]. 一个x连锁脑积水家庭随访20年:超声产前诊断;选择性堕胎)。
Journal de genetique humaine Pub Date : 1989-09-01
B Le Marec, J Milon, S Odent, H Jouan, P Poulain, J Faivre
{"title":"[A family with x-linked hydrocephaly followed for 20 years: echographic prenatal diagnosis; elective abortion].","authors":"B Le Marec,&nbsp;J Milon,&nbsp;S Odent,&nbsp;H Jouan,&nbsp;P Poulain,&nbsp;J Faivre","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In a Bickers-Adams family followed up for almost 20 years, authors report pregnancies of two propositus' sisters: echographic diagnosis of (normal) girls, of normal or affected boys and selective abortion in a case of dizygotic twin pregnancy with a normal girl and an affected boy.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"215-20"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13836717","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
[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis]. [戈拉比·罗森综合征:一种罕见的综合征，病理学范围不精确，产前诊断失败]。
Journal de genetique humaine Pub Date : 1989-06-01
M Le Merrer, J Roume, F Narcy, J C Larroche, M L Briard
{"title":"[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis].","authors":"M Le Merrer,&nbsp;J Roume,&nbsp;F Narcy,&nbsp;J C Larroche,&nbsp;M L Briard","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"163-5"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13886661","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
How much can we raise or lower I.Q.? The joint effects genetic and prenatal factors versus postnatal factors. 我们能提高或降低智商多少?遗传和产前因素与后天因素的共同作用。
Journal de genetique humaine Pub Date : 1989-06-01
C Capron, M Duyme
{"title":"How much can we raise or lower I.Q.? The joint effects genetic and prenatal factors versus postnatal factors.","authors":"C Capron,&nbsp;M Duyme","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"115-8"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13886658","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
[What can psychiatry expect from genetics?]. 精神病学能从遗传学中得到什么?
Journal de genetique humaine Pub Date : 1989-06-01
J Geneste
{"title":"[What can psychiatry expect from genetics?].","authors":"J Geneste","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"97-102"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13805015","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
[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation]. [致死性多畸形综合征13q缺失继发于母体X;13易位。
Journal de genetique humaine Pub Date : 1989-06-01
G Vittu, M F Croquette, A Donney, F R Duminy, J Couturier, J Cousin
{"title":"[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation].","authors":"G Vittu,&nbsp;M F Croquette,&nbsp;A Donney,&nbsp;F R Duminy,&nbsp;J Couturier,&nbsp;J Cousin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors report the case of a newborn full term delivered by cesarean section for evolutive hydrocephalus, in the last month of pregnancy. This hydrocephalus was confirmed by echography after birth. This also having ambiguous genitalia and atresia ani, he died a few hours later. No evidence of infectious or toxic embryofetopathy was found out as an etiologic factor, but the karyotype of the baby showed a 13 q deletion and that of the mother a non reciprocal Xqter; 13q31.3 translocation. The study of inactivation of X indicated that the inactivated X chromosome in each cell was normal. On this occasion, the authors try to bring together the main points of \"13q-syndrome\" and discuss on the practical approach of antenatal diagnosis which they could propose to the couple.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"141-7"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13885168","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 geneticist and the so-called "socio cultural" familial mental retardation. 遗传学家和所谓的“社会文化”家族性智力低下。
Journal de genetique humaine Pub Date : 1989-06-01
Y Gillerot, L Koulischer, B Yasse, C Wetzburger
{"title":"The geneticist and the so-called \"socio cultural\" familial mental retardation.","authors":"Y Gillerot,&nbsp;L Koulischer,&nbsp;B Yasse,&nbsp;C Wetzburger","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Five hundred children and adolescents affected by mild mental retardation were studied together with their families with regard to a number of psycho-social, medical and genetic factors. Statistical studies were performed with these data and showed that this apparently homogeneous population could in fact be divided into three subgroups. The first and by far the largest group (66%) was constituted by a clinically normal population but in whom adverse social and cultural factors were dominant. In the second subgroup (20%) the mental retardation was much more pronounced (IQ of 50----65) and the socio-cultural and socio-economic levels were particularly low. Finally, organic causes (prematurity, dystocic, labour, etc.) seemed to constitute the principal factor explaining the retardation observed in the third subgroup (14%). The second subgroup comprising of 50 children and their families, were observed more closely; in this group 20 cases of known genetic diseases were found.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"103-12"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13886657","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
[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling]. 112个携带囊性纤维化基因的单倍型分析。在遗传咨询中的应用]。
Journal de genetique humaine Pub Date : 1989-06-01
P Parent, C Ferec, J F Morin, J J Chabaud
{"title":"[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling].","authors":"P Parent,&nbsp;C Ferec,&nbsp;J F Morin,&nbsp;J J Chabaud","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cystic fibrosis (CF) is always a common lethal genetic disease. The locus is localized to human chromosome 7q22-7q31. Genetic linkage between the CF locus and polymorphic DNA marker is used to realize family studies. We have genotyped 56 families (352 patients) with a CF child. The informativeness with the six markers (Met D/Taq I, Met H/Taq I, Met H/Msp 1, XV2c/Taq 1, km19/pst pJ 3.11/Msp 1) is important (96%). The linkage desequilibrium between alleles detected by XV2 c and Km 19 described by Estivill and al, is also showed in our population. The haplotype B (Km 19 = 6.6 kb, XV2 c = 2.1 kb) is present on 84% of our 112 CF chromosomes. We have established the frequencies of the 10 possible genotypes in the pool of the 112 CF chromosomes and in the pool of the normal chromosome and according to Bayes obtained the predictive positive value to be heterozygote. It is possible to precise the genetic counselling in these families.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"133-40"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13886660","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
[Expressivity of familial forms of Fraser syndrome]. [家族型弗雷泽综合征的表达性]。
Journal de genetique humaine Pub Date : 1989-06-01
J C Lambert, I Touitou, V Paquis, A M Saunières
{"title":"[Expressivity of familial forms of Fraser syndrome].","authors":"J C Lambert,&nbsp;I Touitou,&nbsp;V Paquis,&nbsp;A M Saunières","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two new cases of the Fraser syndrome are presented. The literature review indicates that the clinical expression inside families is very constant with regard to cryptophthalmos, syndactyly or internal malformations. Particularly the fatal issue of severe forms is regularly constant in each of the families recently reported with a detailed autopsy. These conclusion would change the genetic counseling. A lethal form of the disease would recur in the same manner and could be detected by exhibiting the genito-urinary malformations at ultrasonography or even the syndactyly at foetoscopy.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"119-26"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13689175","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 X-linked adrenal hypoplasia associated with glycerol kinase deficiency]. [产前诊断与甘油激酶缺乏相关的x连锁肾上腺发育不全]。
Journal de genetique humaine Pub Date : 1989-06-01
G Malpuech, B Dastugue, G Giraud, P Jouanel, P Vanlieferinghen, H Carla
{"title":"[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].","authors":"G Malpuech,&nbsp;B Dastugue,&nbsp;G Giraud,&nbsp;P Jouanel,&nbsp;P Vanlieferinghen,&nbsp;H Carla","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a case of X-linked adrenal hypoplasia associated with glycerol kinase deficiency in a boy. Cytogenetic studies and X-linked probes did not demonstrate deletion at Xp21. These probes are not informative enough to be used in prenatal diagnosis. This diagnosis was achieved by glycerol concentration assay in amniotic fluid and by maternal plasma estriol assay.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"155-62"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13689176","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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