Annales de genetique最新文献_第5页

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

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

Are cells with trisomy 10 always malignant in hematopoietic disorders? 10三体细胞在造血疾病中总是恶性的吗?

Annales de genetique Pub Date : 1999-01-01

R Berger, M Busson-Le Coniat

引用次数: 0

Gastric carcinoma in Sotos syndrome (cerebral gigantism). 胃癌合并Sotos综合征(脑巨人症)。

Annales de genetique Pub Date : 1999-01-01

B Le Marec, L Pasquier, C Dugast, M Gosselin, S Odent

引用次数: 0

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Familial Mediterranean fever]. 法国人类遗传学学会。“遗传学实践”委员会。用于遗传咨询的核心科学数据。家族性地中海热]。

Annales de genetique Pub Date : 1999-01-01

C Cazeneuve, C Dode, M Delpech, I Touitou, G Grateau, S Amselem

引用次数: 0

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. 5个新的范德伍德综合征类群与1q32-q41标记的连锁分析进一步支持了该疾病性状的基因座同质性。

Annales de genetique Pub Date : 1999-01-01

C Houdayer, V Soupre, M Rosenberg-Bourgin, H Martinez, M Tredano, D Feldmann, J Feingold, P Aymard, A Munnich, Y Le Bouc, M P Vazquez, M Bahuau

{"title":"Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.","authors":"C Houdayer, V Soupre, M Rosenberg-Bourgin, H Martinez, M Tredano, D Feldmann, J Feingold, P Aymard, A Munnich, Y Le Bouc, M P Vazquez, M Bahuau","doi":"","DOIUrl":"","url":null,"abstract":"van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hôpital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked to one another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locus heterogeneity of the disease trait.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 2","pages":"69-74"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21300159","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

Novel translocation t(3;11)(p21;q24) in multiple myeloma characterised by FISH. FISH表征的多发性骨髓瘤中的新型易位t(3;11)(p21;q24)。

Annales de genetique Pub Date : 1999-01-01

A Smith, R de Lambert, L Robson

引用次数: 0

Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. 多生同色短臂同染色体的形成:新病例的亲本和细胞起源阶段及文献综述。

Annales de genetique Pub Date : 1999-01-01

T Eggermann, R Schubert, H Engels, C Apacik, S Stengel-Rutkowski, C Haefliger, V Emiliani, C Ricagni, G Schwanitz

{"title":"Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.","authors":"T Eggermann, R Schubert, H Engels, C Apacik, S Stengel-Rutkowski, C Haefliger, V Emiliani, C Ricagni, G Schwanitz","doi":"","DOIUrl":"","url":null,"abstract":"In order to get insight in the formation of isochromosomes we analysed different supernumerary euchromatic short arm isochromosomes for the parent and cell stage of origin. After cytogenetic detection and confirmation by fluorescence-in-situ hybridization we performed short tandem repeat typing in a child with i(9p), three with i(12p) and three with i(18p). The extra chromosomes were monocentric in each case, the i(9p) and i(12p) constitutions were found in mosaic with normal cell lines. Our results and those of other groups indicate a strong role of maternal meiosis in isochromosome formation: in one i(8p), 4 out of 5 i(9p), 7 out of 12 i(12p) and 18 out of 23 i(18p) families a maternal meiotic nondisjunction had occurred prior to the centromere misdivision. For chromosome 18, the majority of isochromosomes originated from a maternal meiosis II error (16/18). For the other tetrasomic constitutions the isochromosomes could be delineated from paternal as well as from maternal origin, the short tandem repeat typing patterns being consistent with meiotic or mitotic cell stages of formation. Thus, independently of the chromosomal origin, in the majority of cases with additional euchromatic isochromosomes maternal meiosis nondisjunction is the initial step followed by centromeric misdivision. Postzygotic nondisjunction as suggested previously due to mosaics observed in tetrasomies 9p and 12p seems to be of minor importance. The observed origin of isochromosomes 18 corresponds to that of trisomy 18, where the majority of cases can be delineated from maternal meiosis II errors.","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 2","pages":"75-80"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21300160","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

Double telomeric signals on single chromatids revealed by FISH and PRINS. FISH和PRINS在单个染色单体上发现的双端粒信号。

Annales de genetique Pub Date : 1999-01-01

C Philippe, P Coullin, A Bernheim

引用次数: 0

[French Society for Human Genetics. "Genetics in Practice" Commission. Core scientific data of use in genetic counseling. Hemochromatosis]. 法国人类遗传学学会。“遗传学实践”委员会。用于遗传咨询的核心科学数据。血色沉着病)。

Annales de genetique Pub Date : 1999-01-01

J Yaouanq, J Feingold, D Lacombe

引用次数: 0