Annales de Génétique最新文献_第2页

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia 急性髓母细胞白血病中与双分钟染色体和MYC扩增相关的4三体

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.08.004

Aline Receveur , Jeanne Ong , Laurent Merlin , Zahia Azgui , Hélène Merle-Béral , Roland Berger , Florence Nguyen-Khac

引用次数: 12

Cryptic translocations involving chromosome 20 in polycythemia vera 真性红细胞增多症中涉及20号染色体的隐性易位

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.08.003

Maryvonne Busson , Serge Romana , Florence Nguyen Khac , Olivier Bernard , Roland Berger

引用次数: 10

Isolated congenital anonychia cases with coincident chromosomal fragility 合并染色体易碎性的孤立性先天性匿名症

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.03.004

İrfan Özyazgan , Işılay Özyazgan , Munis Dündar

引用次数: 3

Non-lethal Hallermann–Streiff syndrome with bone fracture: report of a case 非致死性Hallermann-Streiff综合征合并骨折1例报告

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.03.005

Vildan Ertekin , Mukadder Ayşe Selimoğlu , Erol Selimoğlu

引用次数: 10

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES) 荧光原位杂交鉴定亚显微不平衡亚端粒易位t(2p;10q):胎儿颈部半透明性增高，标准核型正常，生长发育迟缓，脑形突触(RES)

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.005

J. Lespinasse , H. Testard , F. Nugues , M. Till , M.P. Cordier , M. Althuser , F. Amblard , S. Fert-Ferrer , C. Durand , F. Dalmon , C. Pourcel , P.S. Jouk

{"title":"A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES)","authors":"J. Lespinasse , H. Testard , F. Nugues , M. Till , M.P. Cordier , M. Althuser , F. Amblard , S. Fert-Ferrer , C. Durand , F. Dalmon , C. Pourcel , P.S. Jouk","doi":"10.1016/j.anngen.2004.07.005","DOIUrl":"10.1016/j.anngen.2004.07.005","url":null,"abstract":"<div><p>Reaching an accurate diagnosis in children with mental retardation associated or not with dysmorphic signs is important to make precise diagnosis of a syndrome and for genetic counseling. A female case with severe growth and development delay, dysmorphic features and feeding disorder is presented. Antenataly, the fetus was observed to have increased nuchal translucency and a slight hypoplastic cerebellum. A standard karyotype was normal. RES and a submicroscopic unbalanced subtelomeric translocation t(2p; 10q) were demonstrated after birth. We show that within the framework of a collaborative approach, a concerted research of submicroscopic subtelomeric rearrangements should be performed in case of mental retardation associated with facial dysmorphic features, and when other etiologies or non-genetic factors (iatrogenic, toxic, infectious, metabolic...) have been ruled out.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.07.005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24847724","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: 16

Partial trisomy 8q and partial monosomy 18p: a case report 8q部分三体和18p部分单体1例

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.004

S. Puvabanditsin , E. Garrow , F.A. Rabi , R. Titapiwatanakun , K.M. Kuniyoshi

引用次数: 11

Y chromosome micro-deletions in idiopathic infertility from Northern India 印度北部特发性不孕症的Y染色体微缺失

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.05.003

Rama Devi Mittal , Gunjana Singh , Aneesh Srivastava , Mandakini Pradhan , Akanchha Kesari , Annu Makker , Balraj Mittal

{"title":"Y chromosome micro-deletions in idiopathic infertility from Northern India","authors":"Rama Devi Mittal , Gunjana Singh , Aneesh Srivastava , Mandakini Pradhan , Akanchha Kesari , Annu Makker , Balraj Mittal","doi":"10.1016/j.anngen.2004.05.003","DOIUrl":"10.1016/j.anngen.2004.05.003","url":null,"abstract":"<div><p>Azoospermia factor locus (AZF) is assumed to contain the genes responsible for spermatogenesis. Deletions in these genes are thought to be pathologically involved in some cases of male infertility associated with azoospermia or oligozoospermia. An attempt was made to establish the prevalence of micro-deletions on the Y chromosome in 79 infertile North Indians with azoospermia and oligozoospermia. Detail clinical examinations as well as endocrinological parameters were also done. Polymerase chain reaction (PCR) micro-deletion analysis was done in 79 infertile men. For this, genomic DNA was extracted from the peripheral blood. Seven sets of primers were used encompassing AZFa, AZFb and AZFc regions. Micro-deletions in five of the 79 cases (6.3%) showed deletions of at least one of the STS markers. Deletions were detected with known and unknown aetiology and at least in one of the infertile male with varicocele. AZF micro-deletions seen in idiopathic infertile males suggest the need for molecular screening in non-idiopathic cases.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.05.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24845491","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

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending 人类12号染色体的核内排列在中期染色体中表现为非随机弯曲

Annales de Génétique Pub Date : 2004-10-01 DOI: 10.1016/j.anngen.2004.07.002

A. Plaja , R. Miro , E. Lloveras , E. Sarret , B. Fernandez , J. Egozcue

引用次数: 1

Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men 雄激素受体基因CAG重复长度在肥沃和不育突尼斯男子

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.010

Lobna Hadjkacem , Hassen Hadj-Kacem , Amel Boulila , Ali Bahloul , Hammadi Ayadi , Leila Ammar-Keskes

{"title":"Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men","authors":"Lobna Hadjkacem , Hassen Hadj-Kacem , Amel Boulila , Ali Bahloul , Hammadi Ayadi , Leila Ammar-Keskes","doi":"10.1016/j.anngen.2004.03.010","DOIUrl":"10.1016/j.anngen.2004.03.010","url":null,"abstract":"<div><p>Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen receptor (AR) gene and male infertility. But such result was not reproduced in others. To test this hypothesis, we investigated the number of (CAG) repeats in the AR gene among two groups of infertile (<em>n</em> = 129) and fertile Tunisian men (<em>n</em> = 98), using polymerase chain reaction (PCR) targeting the AR CAG repeat tract, followed by electrophoresis on polyacrylamide gel (6%). For statistical analysis we used Student, Kolmogorov–Smirnov (KS) and <em>χ</em><sup>2</sup>-tests. Significance was reached when <em>P</em> < 0.05. No statistically significant difference in the mean length of the CAG repeat was found between infertile and control groups (<em>P</em> = 0.47). Moreover, using KS test, we have not found a difference in the distribution of allele frequencies between infertile and controls (<em>D</em><sub>obs</sub> = 0.046 < <em>D</em><sub>crit</sub> = 0.180). We also did not found a statistically significant relationship between the size of the CAG repeat and impaired sperm production in Tunisian population. Our results may be attributed to the high probability that infertile males may represent a heterogeneous group with respect to the causes of defective spermatogenesis.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24658823","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

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting 与罕见常染色体隐性遗传性状、三体嵌合体和基因组印记相关的母体单亲二体14的表型解剖

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.006

Dieter Kotzot

{"title":"Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting","authors":"Dieter Kotzot","doi":"10.1016/j.anngen.2004.03.006","DOIUrl":"10.1016/j.anngen.2004.03.006","url":null,"abstract":"<div><p>The phenotype of maternal uniparental disomy of chromosome 14 (upd(14)mat) is characterized by pre and postnatal growth retardation, early onset of puberty, joint laxity, motor delay, and minor dysmorphic features of the face, hands, and feet. Based on a clinical analysis of 24 cases extracted from the literature the phenotype of upd(14)mat was dissected with respect to each symptom’s most likely primary causative: trisomy mosaicism, rare autosomal recessively inherited traits, and the impact of known imprinted genes located on chromosome 14q32. As a result, primary factors are confined placental mosaicism for prenatal growth retardation and one or more imprinted genes, which contribute to the reduced final height by accelerated skeletal maturation. As a secondary effect the latter might also cause early onset of puberty. Other secondary effects might be postnatal adaptation problems associated with neurological deficits such as muscular hypotonia due to premature delivery and reduced birthweight and most dysmorphic features as a consequence of subtle skeletal abnormalities and muscular hypotonia. Considering the rarity of traits such as cleft palate, trisomy mosaicism in the fetus is more likely causative than homozygosity of autosomal recessively inherited mutations. Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24658826","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