Annales de genetique最新文献_第4页

A survey of fragile X syndrome in a sample from Spanish Basque country. 西班牙巴斯克地区脆性X染色体综合征的调查。

Annales de genetique Pub Date : 1999-01-01

I Arrieta, B Criado, B Martinez, M Telez, T Nuñez, O Peñagarikano, B Ortega, C M Lostao

{"title":"A survey of fragile X syndrome in a sample from Spanish Basque country.","authors":"I Arrieta, B Criado, B Martinez, M Telez, T Nuñez, O Peñagarikano, B Ortega, C M Lostao","doi":"","DOIUrl":"","url":null,"abstract":"Fragile X syndrome is the most common inherited form of mental retardation. The syndrome is associated with a CGG repeat expansion in the 5'UTR of the first exon of the FMR1 gene. This gene maps to Xq27.3 and coincides with the cytogenetic fragile site (FRAXA). The present study deals with the prevalence of fragile X syndrome among individuals with mental retardation of unknown cause from institutions and special schools from the Spanish Basque Country. Results of cytogenetic and molecular studies, performed in a group of 134 unrelated individuals (92 males and 42 females) are presented. The cytogenetic marker at Xq27.3 was identified in 12 patients. Other chromosomal abnormalities were found in two cases that this and previous studies confirmed as Angelman and Prader-Willi syndromes. Two males, in whom the cytogenetic marker was identified, were found negative for FRAXA and FRAXE expansion at the molecular level. The present study shows that the frequency of the FRAXA full mutation in individuals of Spanish non-Basque origin is in the range of other Spanish populations. In the sample of Spanish Basque origin we have not found cytogenetic FRAXA site expression, and the CGG repeat size of FMR1 gene is in the normal range. The significance of these results are discussed.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 4","pages":"197-201"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21527242","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

Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation. 纯部分三体5q33- >5q35是由父系(5;14)(q33;p12)易位的邻接-1分离引起的。

Annales de genetique Pub Date : 1999-01-01

A Paoloni-Giacobino, A Bottani, S P Dahoun

引用次数: 0

[A brief history of medical genetics]. [医学遗传学简史]。

Annales de genetique Pub Date : 1999-01-01

J Frézal

引用次数: 0

Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. 16q部分三体的FISH鉴定。患者报告及文献回顾。

Annales de genetique Pub Date : 1999-01-01

J J Engelen, C E De Die-Smulders, P T Vos, L E Meers, J C Albrechts, A J Hamers

引用次数: 0

Comparison of metaphase and interphase FISH monitoring of minimal residual disease with MLL gene probe: case study of AML with t(9;11). MLL基因探针对微量残留病中期和间期FISH监测的比较:以t型AML为例(9;11)。

Annales de genetique Pub Date : 1999-01-01

J H Gallo, L G Robson, N W Watson, P Sharma, A Smith

引用次数: 0

CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers. 肌强直性营养不良患者CTG不稳定性:法国东南部家庭CGT重复数代际变异特征的分子遗传分析。

Annales de genetique Pub Date : 1999-01-01

S Duthel, M Bost, E Ollagnon, C Vial, P Petiot, G Chazot, A Vandenberghe

{"title":"CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers.","authors":"S Duthel, M Bost, E Ollagnon, C Vial, P Petiot, G Chazot, A Vandenberghe","doi":"","DOIUrl":"","url":null,"abstract":"We report clinical, genetical and genealogical findings in 149 French families from the Rhône-Alpes area studied over a 5-year period. There was a significant excess of DM females compared to DM males with (CTG) repeat sizes between 1-2 kb. The mean maternal (CTG) repeat size was higher than paternal repeat size. Anticipation phenomenom was significantly higher after maternal than after paternal transmission. A significant correlation between parental (CTG) repeat size and intergenerational variation both in paternal and maternal transmissions was observed. The anticipation phenomenom was more important for sons than daughters particularly after maternal transmission. The mean (CTG) repeat size in mothers of CDM cases was about twice that of mothers of NCDM children. The risk of giving birth to a CDM child increased considerably when the number of maternal (CTG) repeats was over 300 (CTG). A significant excess of DM females was observed. They had on average 24% fewer children than male patients. Paternal transmission (63.6%) of DM occurred more frequently than maternal transmission (52.7%).","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 3","pages":"151-9"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21388184","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

Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis. 13号染色体末端缺失2例:临床特征、常规及分子细胞遗传学分析。

Annales de genetique Pub Date : 1999-01-01

I Luquet, B Favre, N Nadal, N Madinier, P Khau Van Kien, F Huet, A Nivelon-Chevallier, F Mugneret

引用次数: 0

Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome. 13q染色体等双中心和13q/8p易位的畸形和智力迟钝患者的近端13q三体和远端8p单体。

Annales de genetique Pub Date : 1999-01-01

T Lukusa, L van den Berghe, E Smeets, J P Fryns

引用次数: 0

Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity. 家族性高度近视:常染色体显性遗传模式和遗传异质性的证据。

Annales de genetique Pub Date : 1999-01-01

L Naiglin, J Clayton, C Gazagne, F Dallongeville, F Malecaze, P Calvas

{"title":"Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.","authors":"L Naiglin, J Clayton, C Gazagne, F Dallongeville, F Malecaze, P Calvas","doi":"","DOIUrl":"","url":null,"abstract":"High myopia, defined as a refractive error inferior to -6 diopters, often appears as a familial disease. In order to precise its genetic background, we performed a segregation analysis on 32 French families (320 subjects including 120 individuals with clinical data) containing at least one high myopic person in their genealogy. Under the assumption of a two-alleles single gene model, the autosomal dominant transmission mode showed a much greater likelihood than the autosomal recessive mode, which therefore was rejected. From the segregation model obtained, a two-point linkage analysis was made on 18 families (107 subjects), among the 32 used for the segregation analysis. Different candidate loci were tested: collagen genes including Stickler syndrome types 1 and 2, proteoglycan genes, Marfan 1 syndrome and a Marfan like disorder localised in 3p24.2-p25. No evidence of linkage was found with any of the studied markers. In addition, the absence of linkage with chromosome 18p11.31 markers, a locus linked to familial high myopia in 6 North American families and 1 family of Chinese descent, demonstrated the genetic heterogeneity of the disease.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 3","pages":"140-6"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21388314","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

Probing the human genome in search for a new 3q syndrome. 探测人类基因组，寻找新的3q综合征。

Annales de genetique Pub Date : 1999-01-01

G M Azar, R A Conte, S M Kleyman, A Z Logush, R S Verma

引用次数: 0