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

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

Familial coarctation of the aorta in three generations. 三代人的家族性主动脉缩窄。

Annales de genetique Pub Date : 1999-01-01

C Stoll, Y Alembik, B Dott

引用次数: 0

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy. 先天性鱼鳞病，性腺功能减退，身材矮小，面部畸形，脊柱侧凸和肌源性营养不良综合征。

Annales de genetique Pub Date : 1999-01-01

C Stoll, D Eyer

{"title":"A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.","authors":"C Stoll, D Eyer","doi":"","DOIUrl":"","url":null,"abstract":"Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor Kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from Refsum disease, Sjögren-Larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 1","pages":"45-50"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21084886","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