Annales de Génétique最新文献_第4页

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15) Prader-Willi综合征，由于不平衡的易位t导致异常大的15q缺失(4;15)

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.01.003

Monica C. Varela, Graziela M.P. Lopes, Celia P. Koiffmann

{"title":"Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)","authors":"Monica C. Varela, Graziela M.P. Lopes, Celia P. Koiffmann","doi":"10.1016/j.anngen.2004.01.003","DOIUrl":"10.1016/j.anngen.2004.01.003","url":null,"abstract":"<div><p>Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, absence of speech and mental retardation was studied by cytogenetic and molecular techniques, and an unbalanced <em>de novo</em> karyotype 45,XY,der(4)t(4;15)(q35;q14),-15 was detected after GTG-banding. The patient was diagnosed by SNURF-SNRPN exon 1 methylation assay, and the extent of the deletions on chromosomes 4 and 15 was investigated by microsatellite analysis of markers located in 4qter and 15q13-q14 regions. The deletion of chromosome 4q was distal to <em>D4S1652</em>, and that of chromosome 15 was located between <em>D15S1043</em> and <em>D15S1010</em>. Our patient’s severely affected phenotype could be due to the extent of the deletion, larger than usually seen in PWS patients, although the unbalance of the derivative chromosome 4 cannot be ruled out as another possible cause. The breakpoint was located in the subtelomeric region, very close to the telomere, a region that has been described as having the lowest gene concentrations in the human genome.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 267-273"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.01.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659926","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: 18

Inherited ring chromosome 8 without loss of subtelomeric sequences 没有亚端粒序列丢失的遗传环染色体8

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2003.10.005

Cedric Le Caignec , Michelle Boceno , Sebastien Jacquemont , Sylvie Nguyen The Tich , Jean-Marie Rival , Albert David

{"title":"Inherited ring chromosome 8 without loss of subtelomeric sequences","authors":"Cedric Le Caignec , Michelle Boceno , Sebastien Jacquemont , Sylvie Nguyen The Tich , Jean-Marie Rival , Albert David","doi":"10.1016/j.anngen.2003.10.005","DOIUrl":"10.1016/j.anngen.2003.10.005","url":null,"abstract":"<div><p>We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child’s karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,–8[2] and the mother’s karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,–8[2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 289-296"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659932","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: 25

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18 复发近端18p单体和18q三体在一个家庭与母亲18号染色体的中心反转

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.007

K. Prabhakara , Herman E. Wyandt , Xin L. Huang , K.Suma Prasad , A.Radha Ramadevi

引用次数: 8

Chromosome 22q11.2 microdeletion in a patient with hemophilia A a型血友病患者染色体22q11.2微缺失的研究

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.11.001

Murat Derbent , Namık Özbek , Füsun Alehan , Zerrin Yılmaz

引用次数: 1

Prenatal diagnosis of an interstitial 12q chromosome deletion 间质性12q染色体缺失的产前诊断

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.10.006

C. Pérez Sánchez , F. Ayensa , E. Lloveras , L. Zamora , V. Cirigliano , E. Pérez , A. Plaja

引用次数: 6

Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management 核型正常且无微缺失y染色体的非阻塞性无精子症男性不育患者的减数分裂研究为临床夫妻管理提供了参考

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.10.003

Marie-Odile North , Ilona Lellei , Edit Erdei , Jacques Patrick Barbet , Joseph Tritto

{"title":"Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management","authors":"Marie-Odile North , Ilona Lellei , Edit Erdei , Jacques Patrick Barbet , Joseph Tritto","doi":"10.1016/j.anngen.2003.10.003","DOIUrl":"10.1016/j.anngen.2003.10.003","url":null,"abstract":"<div><p>To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For patients with no meiotic figures and patients with class I and class IIB anomalies, an hormonal stimulation is illusory and a sperm gift should be directly proposed. An hormonal stimulation should be proposed to all the other patients, either directly or following the treatment of the testicular microenvironment for the patients presenting class IIC anomalies. The genetic risk and possibility of prenatal chromosomal analysis in case of pregnancy should be clearly exposed to all the couples in all the cases where type IIA, III or IV anomalies are present. This therapeutical strategy has been applied to all the patients in our series.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 113-123"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.10.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553181","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: 3

Genealogical study of myotonic dystrophy in Istria (Croatia) 伊斯特拉(克罗地亚)肌强直性营养不良的家谱研究

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.026

I. Medica , N. Logar , D. Leonardelli Mileta , B. Peterlin

引用次数: 6

Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome 克氏综合征性染色体嵌合体的细胞遗传学和荧光原位杂交评价

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.08.024

Nouha Bouayed Abdelmoula , Ahlem Amouri , Marie-France Portnoi , Ali Saad , Tahia Boudawara , Mohamed Nabil Mhiri, Ali Bahloul , Tarek Rebai

{"title":"Cytogenetics and fluorescence in situ hybridization assessment of sex-chromosome mosaicism in Klinefelter’s syndrome","authors":"Nouha Bouayed Abdelmoula , Ahlem Amouri , Marie-France Portnoi , Ali Saad , Tahia Boudawara , Mohamed Nabil Mhiri, Ali Bahloul , Tarek Rebai","doi":"10.1016/j.anngen.2003.08.024","DOIUrl":"10.1016/j.anngen.2003.08.024","url":null,"abstract":"<div><p>A retrospective study was carried out in 152 infertile men to determine the prevalence of sex chromosome abnormalities among non-obstructive azoospermic and severe oligospermic men (<em>n</em> = 51) and to evaluate the feasibility of fluorescence in situ hybridization (FISH) techniques to assess mosaicism in Klinefelter’s patients in comparison with conventional cytogenetics. Cytogenetic analysis were performed for 51 infertile men and among 14 chromosomal abnormalities found, nine were compatible with Klinefelter’s syndrome. FISH staining with a CEP X/CEP Y probes were performed for Klinefelter’s patients and for five of them; testes were biopsied for histopathologic examination. Six Klinefelter’s patients showed a non-mosaic 47,XXY and three showed a 47,XXY/46,XY mosaic by G or R banding analysis of 20 cells with a ratio of 17%, 20% and 33%, respectively. FISH analysis confirmed mosaicism in only one patient (the first) in whom a third cells population was found. There was no relationship between the ratios of mosaicism by banding and FISH analysis. Conventional histopathologic findings in five non-mosaic Klinefelter’s patients confirm the diagnosis of Sertoli Only Cells syndrome. FISH is recommended in Klinefelter’s syndrome to define exactly the cytogenetic statute as mosaic or non-mosaic and then discussing prognosis and decision regarding fertility counseling.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 163-175"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.08.024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24554159","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: 33

Consanguineous marriages in the province of Antalya, Turkey 土耳其安塔利亚省的近亲婚姻

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.09.001

Ö.M. Alper , H. Erengin , A. E Manguoğlu , T. Bilgen , Z. Çetin , N. Dedeoğlu , G. Lüleci

{"title":"Consanguineous marriages in the province of Antalya, Turkey","authors":"Ö.M. Alper , H. Erengin , A. E Manguoğlu , T. Bilgen , Z. Çetin , N. Dedeoğlu , G. Lüleci","doi":"10.1016/j.anngen.2003.09.001","DOIUrl":"10.1016/j.anngen.2003.09.001","url":null,"abstract":"<div><p>To assess the trends in the frequency and the medical effects of consanguinity in the south coast of Turkish population using local and national data in the last 11 years. This cross-sectional study was carried out in Manavgat province, which is a major tourism center on the Mediterranean coast of Turkey. The authors studied consanguineous marriages in rural and urban population in the Mediterranean coast, Manavgat province, Turkey, via a 1500 random survey sample of married couples. There has been a significant increase in the incidence of consanguineous marriages in rural areas (40.7%) since 1989 in the southern population of Turkey. The results showed that the most frequent type of marriage was between the first cousins. It is found that there is no statistically significant difference between the consanguineous and non-consanguineous marriages in the different age groups. The results were discussed on the basis of educational status, reasons for having consanguineous marriages and the general medical effects as well as with the relation of congenital malformations. The custom of consanguineous unions in the Mediterranean population of Turkey is still extremely high, and preventive measures should be done to decrease its frequency and associated complications.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 129-138"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553183","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: 74

Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters 墨西哥西部健康人群PAI-1启动子多态性的基因型和等位基因频率与生化和血液学参数的关联

Annales de Génétique Pub Date : 2004-04-01 DOI: 10.1016/j.anngen.2003.12.001

Sandra Ruiz-Quezada , Mónica Vázquez-Del Mercado , Isela Parra-Rojas , Héctor Rangel-Villalobos , Carlos Best-Aguilera , Laura Verónica Sánchez-Orozco , José Francisco Muñoz-Valle

{"title":"Genotype and allele frequency of PAI-1 promoter polymorphism in healthy subjects from the west of Mexico. Association with biochemical and hematological parameters","authors":"Sandra Ruiz-Quezada , Mónica Vázquez-Del Mercado , Isela Parra-Rojas , Héctor Rangel-Villalobos , Carlos Best-Aguilera , Laura Verónica Sánchez-Orozco , José Francisco Muñoz-Valle","doi":"10.1016/j.anngen.2003.12.001","DOIUrl":"10.1016/j.anngen.2003.12.001","url":null,"abstract":"<div><p>We investigated the genotype and allelic frequency of the –675 bp insertion/deletion polymorphism at the <em>PAI-1</em> gene promoter, in healthy Mexican subjects. It was compared to the lipid profile and hematological parameters, and to other healthy worldwide populations. A Mexican population sample of 110 individuals was studied. Demographic data and clinical characteristics of the subjects were registered. Fasting lipid profile, serum glucose, fibrinogen, hematological parameters and leukocyte genomic DNA isolation from peripheral blood were performed in all the participants. Screening of the <em>PAI-1</em> genotype was done by PCR and restriction analysis. Genotype 4G/4G, 4G/5G, 5G/5G frequency in Mexican healthy subjects was: 14.55%, 39.09%, 46.36%, respectively, whereas the allelic frequency for 5G allele was 65.9%. A significant lesser frequency for 4G allele and related genotypes (4G/4G and 4G/5G) was established in healthy subjects from Mexico, respect to all the compared populations. A particular genotype and allelic frequency of this <em>PAI-1</em> polymorphism was established in Mexico. The clinical parameters were not associated according to each genotype of <em>PAI-1.</em></p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 2","pages":"Pages 155-162"},"PeriodicalIF":0.0,"publicationDate":"2004-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.12.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24553185","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: 36