Annales de genetique最新文献_第10页

Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants. 肌强直性营养不良蛋白激酶基因在先天性患儿骨骼肌中的表达。

Annales de genetique Pub Date : 1997-01-01

A Laurent, J M Costa, B Assouline, M Voyer, M Vidaud

引用次数: 0

A rare case of a liveborn with free, de novo and partial trisomy 12 and an unusual phenotype. 一个罕见的病例活产自由，新生和部分12三体和一个不寻常的表型。

Annales de genetique Pub Date : 1997-01-01

H el-Shanti, M Khasawneh, D Hulsberg, H Major, S Patil

引用次数: 0

Congenital eye malformations in 212,479 consecutive births. 212,479例连续出生的先天性眼睛畸形。

Annales de genetique Pub Date : 1997-01-01

C Stoll, Y Alembik, B Dott, M P Roth

{"title":"Congenital eye malformations in 212,479 consecutive births.","authors":"C Stoll, Y Alembik, B Dott, M P Roth","doi":"","DOIUrl":"","url":null,"abstract":"Congenital eye malformations were studied in a small geographical area in 212,479 consecutive births. For each of the 145 new cases studied during the period 1979 to 1994, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 6.8 per 10,000 for microphthalmia 1.7, anophthalmia 0.23, cataract 2.7 and coloboma 1.4 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in 18 cases and 7 cases were induced abortions. The more common types of associated malformations in the 81 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly, cleft lip/palate and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighted less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformations and consanguinity of parents. The recurrence risk for first degree relatives of probands was 8.9%. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 2","pages":"122-8"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20201587","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

Cytogenetic characterization of interspecific somatic hybrids by PRINS. 种间体细胞杂交种的细胞遗传学特征。

Annales de genetique Pub Date : 1997-01-01

P Coullin, B Andreo, J J Candelier, J P Charlieu, F Pellestor

{"title":"Cytogenetic characterization of interspecific somatic hybrids by PRINS.","authors":"P Coullin, B Andreo, J J Candelier, J P Charlieu, F Pellestor","doi":"","DOIUrl":"","url":null,"abstract":"The primed in situ (PRINS) labeling technique was developed as an alternative method to classical cytogenetics and in situ hybridization (FISH) for the characterization of interspecific somatic hybrids. Full karyotypes were performed using Alu specific primers generating the painting of all human material associated with R like banding. The representativity of individual human chromosomes was established using primers specific for discriminent alpha-satellite DNA sequences providing specific signals on the centromeres of the targeted chromosomes and corresponding spots in interphase nuclei. Due to the use of synthetic oligonucleotide primers and of directly labeled haptens. PRINS method avoid repetitive probes preparation, eliminates secondary amplification of signals and the whole process can be performed within a timespan of 1 hour. Providing qualitative and quantitative answers, the simple PRINS method appears very well adapted to the specific problematic of somatic hybrids as for their characterization than for their periodic controls imposed by their instability. The method has been tested on 4 human-rodent hybrid cell lines. In particular, the somatic hybrid clone ALE 4 was shown to be monochromosomal for the der(11) from the reciprocal translocation t(11:22).","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 1","pages":"18-23"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20098387","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

Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness. 恶性黑色素瘤/发育不良痣和神经系统肿瘤的家族聚集:肿瘤易感性的原始综合征。

Annales de genetique Pub Date : 1997-01-01

M Bahuau, D Vidaud, M Kujas, A Palangié, B Assouline, M Chaignaud-Lebreton, M Prieur, M Vidaud, J P Harpey, J Lafourcade, B Caille

引用次数: 0

Detection of delta F508 mutation in cystic fibrosis patients from northwestern Mexico. 墨西哥西北部囊性纤维化患者δ F508突变的检测。

Annales de genetique Pub Date : 1997-01-01

S E Flores Martinez, M P Gallegos Arreola, M C Moran Moguel, J Sanchez Corona

引用次数: 0

Characterization of two extreme variants involving the short arm of chromosome 22: are they identical? 涉及22号染色体短臂的两个极端变异的特征:它们是相同的吗?

Annales de genetique Pub Date : 1997-01-01

R A Conte, S M Kleyman, C Laundon, R S Verma