Journal de genetique humaine最新文献

{"title":"[Calculation of the proportion of men excluded from paternity by HLA typing of the mother and child].","authors":"J Seignalet","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>When filiation research shows that paternity is possible, French legislation recommends the calculation of two coefficients: 1. paternity probability (CP); 2. percentage of random men excluded from paternity by genetic markers of the mother and the child (PEme). A method is proposed, allowing the determination of PEme for the HLA system and PEme for the various systems employed. The calculations, relatively simple, can be worked out quickly and without risk of error, using a computer. We successively look at simple cases, complex cases and unusual cases: maternal death, consanguinity problems, racial problems. HLA-A, B, C, DR, DQ typing almost always leads to the exclusion of more than 98% of innocent men (PEme greater than 0.98). The HLA system clearly appears to be the most conclusive of the systems utilized by experts.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"397-411"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345526","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}

{"title":"[Haplotypes associated with the cystic fibrosis gene (CF)].","authors":"C Ferec","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The linkage relationships between the cystic fibrosis locus and six marker loci allowed us to build 122 haplotypes bearing the CF gene and to compare them to the 122 normal haplotypes. We obtained 13 different marker haplotypes associated with the CF chromosomes and 22 with the normals in our population. To examine the possibility of a correlation between the clinical and the genetical polymorphism of the disease haplotype analysis was carried out taking in account age at diagnosis, severity of the disease and a particular clinical subgroup such as meconium ileus or pancreatic sufficiency. The results showed that a particular haplotype (121) is predominant in the severe form of the disease. This may have implication in diagnosis and prognosis of the disease.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"413-24"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14041307","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}

{"title":"A systematic cytogenetic study of a population of 1170 mentally retarded and/or behaviourly disturbed patients including fragile X-screening. The Hondsberg experience.","authors":"G A Schreppers-Tijdink,&nbsp;L M Curfs,&nbsp;A Wiegers,&nbsp;A Kleczkowska,&nbsp;J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A cytogenetic study was performed in a population of 1170 mentally retarded and/or behaviourly disturbed patients of the Hondsberg Institute in the south of the Netherlands. The cytogenetic data are presented and discussed. In all patients chromosomal evaluation was performed with Giemsa-banding and Quinacrine fluorescence, and additional banding techniques were performed whenever they were necessary to clarify the chromosomal abnormality. A fragile X screening with M199 cultures was performed in 311 males. In 22.1% of the patients a chromosomal basis was found for their developmental retardation: 14.3% Down syndrome patients, 6.1% other chromosomal abnormalities (mainly partial autosomal trisomies and monosomies and sex-chromosome abnormalities). In 24 males, through 21 index patients, a positive fragile X screening was found, i.e. 6.7% of the screened population and 1.8% of the total population. These results indicate that the diagnostic contribution of the fragile X screening is numerically of equal importance as are advanced chromosome banding techniques, and its contribution to the diagnosis of fragile X syndrome in one index male patient in general leads to the detection of several female relatives at risk to be carrier of this X-linked recessively inherited condition. The causal relationship between the occurrence of mental retardation and chromosomal aberration in genera i.e. autosomal trisomies, partial autosomal trisomies and monosomies, and Xq27-28 fragility is well established and is, to some extent, easy to understand. Whether carriers of other chromosomal rearrangements, mainly of balanced reciprocal and Robertsonian translocations, small extra chromosomes, paracentric inversions and chromosomal variants, have increased risk for mental handicap and/or congenital malformations in their progeny, remains unclear at the present time. Some of these residual problems and questions are discussed in the perspective of their importance for genetic counseling. Detailed data will be presented about the mental development and psychological profile of patients with these different types of chromosomal abnormalities and rearrangements.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"425-46"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14110751","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}

{"title":"[Human tails and pygomelus].","authors":"J H Neidhardt,&nbsp;A Morin","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"501-6"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345533","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}

{"title":"[Pygomelus].","authors":"A Morin,&nbsp;J H Neidhardt,&nbsp;T Basset,&nbsp;J Bérard","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>With an anatomical case and a clinical case, the authors describe the pygomelus, a very rare monstruosity. Legend and reality are often mixed in the description of literature. It is difficult to classify this monstruosity either in the simple monster or in the twin monsters.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 5","pages":"447-61"},"PeriodicalIF":0.0,"publicationDate":"1988-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14345527","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}

{"title":"[Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].","authors":"M Poissonnier,&nbsp;A Blanc,&nbsp;P Bat","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"361-5"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352014","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}

{"title":"[In honor of Prof. Fred Bamatter (1899-1988)].","authors":"D Klein","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"389-91"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14197558","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}

{"title":"[De novo del (13) (q31.1----qter) in a girl. Effect of gene dosage on blood coagulation factors VII and X].","authors":"J Battin,&nbsp;F Serville,&nbsp;M H Mullon,&nbsp;N Mateille","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Partial deletions of chromosome 13 are heterogeneous. The authors describe a girl with a large terminal deletion.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"307-14"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352009","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}

{"title":"[Genetics in Greek antiquity].","authors":"C S Bartsocas","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"279-93"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14349450","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}

{"title":"[Alpha-fetoprotein and trisomy 21].","authors":"S Guibaud,&nbsp;C Boisson,&nbsp;A Simplot,&nbsp;J M Thoulon,&nbsp;J P Favier,&nbsp;P Guibaud,&nbsp;J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In 31 affected pregnancies with Down syndrome, the median maternal serum alpha-fetoprotein value was lower than normal, 0.76 MoM, and median amniotic fluid value was quite normal, 0.98 MoM. Selecting an arbitrary cutoff-point of 0.5 MoM, 4.1 percent of normal gestations show values less than 0.5 MoM. Authors discuss problems about screening for fetal Down's syndrome by measuring maternal serum AFP levels.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"347-51"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13609840","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}