Annales de Génétique最新文献_第3页

Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis 特纳综合征女性，具有缺乏XIST的小环X染色体，出乎意料的轻度表型，与普遍脱发的非典型关联

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.008

N. Bouayed Abdelmoula , M.F. Portnoï , A. Amouri , A. Arladan , M. Chakroun , A. Saad , M. Hchicha , H. Turki , T. Rebai

{"title":"Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis","authors":"N. Bouayed Abdelmoula , M.F. Portnoï , A. Amouri , A. Arladan , M. Chakroun , A. Saad , M. Hchicha , H. Turki , T. Rebai","doi":"10.1016/j.anngen.2004.03.008","DOIUrl":"10.1016/j.anngen.2004.03.008","url":null,"abstract":"<div><p>Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher. These abnormal phenotypes can be ascribed to failed or partial X inactivation. Here, we report a 10-year-old female who was referred for a cytogenetic analysis because she developed an alopecia universalis. The patient, of normal intelligence, had been found to have traits of TS, especially short stature. A first cytogenetic analysis showed a no mosaic 45,X karyotype. Since, the risk of developing gonadoblastoma in TS patients with mosaicism for a Y derivative chromosome and because association of alopecia universalis and TS is uncommon, fluorescence in situ hybridization (FISH) was performed to search for a second cell population. Our patient was found to have a mosaic 45,X/46,X,+r. FISH analysis using sex chromosome probes permitted us to identify the very small marker as a ring X chromosome, detected in 90% of cells. The ring appeared to be formed almost totally of alphoid sequences with breakpoints in the juxtacentromeric region. The r(X) does not include the XIST locus and may, therefore, not be subject to X-inactivation. Unexpectedly mild phenotype in our patient and its association with alopecia universalis will be discussed.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 305-313"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659283","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: 10

A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features 先天性毛细血管扩张性巨头症1例及神经影像学分析

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.003

Nevbahar Akcar , Baki Adapinar , Cagri Dinleyici , Beyhan Durak , I.Ragıp Özkan

引用次数: 21

G-protein β3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux 膀胱输尿管反流患者g蛋白β3亚基基因C825T多态性

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.04.003

Boris Zagradisnik , Katarina Bracic , Natasa Marcun Varda , Nadja Kokalj Vokac , Alojz Gregoric

{"title":"G-protein β3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux","authors":"Boris Zagradisnik , Katarina Bracic , Natasa Marcun Varda , Nadja Kokalj Vokac , Alojz Gregoric","doi":"10.1016/j.anngen.2004.04.003","DOIUrl":"10.1016/j.anngen.2004.04.003","url":null,"abstract":"<div><p>The C825T polymorphism in the GNB3 gene encoding a β3 subunit from heterotrimeric G-proteins correlates strongly with the variation in activity of the G-proteins. It has so far been associated with a variety of medical conditions, but has not been tested for association with vesico-ureteric reflux (VUR). Primary VUR is a condition of genetic origin that appears to be inherited in an autosomal dominant mode, but with reduced penetrance. The constitutional change in G-protein-mediated cell signaling associated with the C825T polymorphism might be one of the factors that participate in the development of VUR by modifying the effect of still unknown mutated gene(s). A significant difference in genotype frequencies (<em>χ</em><sup>2</sup> = 7.38, <em>P</em> = 0.025, df = 2) was observed between patients with primary VUR (33 CC homozygotes, 40 CT heterozygotes, 12 TT homozygotes) and healthy controls with no medical record of reflux (114 CC homozygotes, 88 CT heterozygotes, 18 TT homozygotes). This result suggests that the C825T polymorphism of the GNB3 gene might be associated with the development of VUR.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 209-216"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.04.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24658822","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: 6

Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance 耳廓轻度形态发生错误:流行病学分析、局部相关性及临床意义

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.02.007

David Bader , Marta Grun , Shlomit Riskin-Mashiah , Andrei Grunfeld , Amir Kogelman , Irena Chistyakov , Paul Merlob

{"title":"Auricular mild errors of morphogenesis: epidemiological analysis, local correlations and clinical significance","authors":"David Bader , Marta Grun , Shlomit Riskin-Mashiah , Andrei Grunfeld , Amir Kogelman , Irena Chistyakov , Paul Merlob","doi":"10.1016/j.anngen.2004.02.007","DOIUrl":"10.1016/j.anngen.2004.02.007","url":null,"abstract":"<div><p><em><strong>Background. –</strong></em> The mild errors or morphogenesis (MEMs) are well known and accepted markers of alterations in embryonic development with predictive value in identification of major malformations, specific genetic syndromes, metabolic and psychiatric disease and childhood malignancy.</p><p><em><strong>Objective. –</strong></em> The goal of this study was to assess the contribution of auricular MEMs as part of total MEMs in an effort to study the factors influencing the different potential informative value of different types of MEMs and their variability with perinatal factors.</p><p><em><strong>Method. –</strong></em> Three thousand one hundred and seven consecutive born neonates were screened for auricular and non-auricular MEMs, inregistered concomitantly with major malformations and postural defects. The study was accomplished by our specially designed computerized program in a relatively large nonhomogeneous ethnic population, in the metropolitan area of Haifa, Israel.</p><p><em><strong>Results. –</strong></em> The general prevalence of auricular MEMs was 43.1%; the most frequent pathogenetic type was the postural one. Significantly higher rates of auricular MEMs were associated with male sex, small- and large-for-gestational age, IVF pregnancy, triplet pregnancy, maternal diabetes and parental consanguinity.</p><p><em><strong>Conclusion. –</strong></em> We conclude that the presence, number, and association or concomitance of auricular MEMs in the same neonate may have important clinical, diagnostic, pathogenetic, screening, and therapeutic value.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 225-234"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24658824","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: 9

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases 小多余环染色体的临床表现及细胞遗传学分析:附2例报告

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.02.003

Sandra Chantot-Bastaraud , Christine Muti , Eva Pipiras , Marie Claude Routon , Anne Roubergue , Lydie Burglen , Jean Pierre Siffroi , Brigitte Simon-Bouy

{"title":"Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases","authors":"Sandra Chantot-Bastaraud , Christine Muti , Eva Pipiras , Marie Claude Routon , Anne Roubergue , Lydie Burglen , Jean Pierre Siffroi , Brigitte Simon-Bouy","doi":"10.1016/j.anngen.2004.02.003","DOIUrl":"10.1016/j.anngen.2004.02.003","url":null,"abstract":"<div><p>Two new patients, mosaic for a small supernumerary ring chromosome 7 are described. There are only seven published reported concerning supernumerary ring chromosome 7 and we reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important for genetic counselling and clinical genetics. Our first case was a 20 months old girl who was referred for a mild motor developmental delay, an asymmetric facial appearance, a plagiocephaly and a short nose with anteverted nostrils. Our second case was a 9 years old boy who was referred for a IQ at the lower end of the normal range (≅ 80), obesity, hyperactivity and some dysmorphic features including hypertelorism and down slanting palpebral fissures. In both cases, chromosome analysis after G and R banding and FISH showed a small ring chromosome 7 in respectively 76% and 50% of consecutively scored metaphases. Both ring chromosomes were labelled by FISH using the Williams Syndrome locus probe (Elastin Gene D7S486). Comparison between these two cases and previously published cases allowed to delineate frequent clinical findings. A mild mental retardation was found in the majority of patients. which is an important data for genetic counselling.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 241-249"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.02.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659924","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: 9

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications 甲状旁腺功能减退、严重智力低下、自闭症及基底神经节钙化患者染色体10p缺失1例

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.001

Annapia Verri , Paola Maraschio , Koen Devriendt , Carla Uggetti , Emanuela Spadoni , Edward Haeusler , Antonio Federico

{"title":"Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications","authors":"Annapia Verri , Paola Maraschio , Koen Devriendt , Carla Uggetti , Emanuela Spadoni , Edward Haeusler , Antonio Federico","doi":"10.1016/j.anngen.2004.03.001","DOIUrl":"10.1016/j.anngen.2004.03.001","url":null,"abstract":"<div><p>Chromosome 10p terminal deletions have been associated with a DiGeorge like phenotype. Haploinsufficiency of the region 10p14-pter, results in hypoparathyroidism, sensorineural deafness, renal anomaly, that is the triad that features the HDR syndrome. Van Esch (2000) identified in a HDR patient, within a 200 kb critical region, the GATA3 gene, a transcription factor involved in the embryonic development of the parathyroids, auditory system and kidneys. We describe a new male patient, 33-year-old, with 10p partial deletion affected by hypocalcemia, basal ganglia calcifications and a severe autistic syndrome associated with mental retardation. Neurologically he presented severe impairment of language, hypotonia, clumsiness and a postural dystonic attitude. A peripheral involvement of auditory pathways was documented by auditory evoked potentials alterations. CT scan documented basal ganglia calcifications. Hyperintensity of the lentiform nuclei was evident at the MRI examination. Renal ultrasound scan was normal. Haploinsufficiency for GATA3 gene was documented with FISH analysis using cosmid clone 1.2. Phenotypic spectrum observed in del (10p) is more severe than the classical DGS spectrum. GATA3 has been found to regulate the development of serotoninergic neurons. A serotoninergic dysfunction may be linked with autism in this patient.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 3","pages":"Pages 281-287"},"PeriodicalIF":0.0,"publicationDate":"2004-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2004.03.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24659929","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: 24

A familial complex chromosome translocation resulting in duplication of 6p25 导致6p25重复的家族性复杂染色体易位

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.03.002

J.R. Vermeesch, R. Thoelen, Jean Pierre Fryns

引用次数: 10

CV2 Editorial Board redaction CV2编辑委员会编校

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/S0003-3995(04)00066-8

引用次数: 0

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion 在22q11微缺失的病例中，单倍体TBX1位点的等位基因变异不影响心脏表型

Annales de Génétique Pub Date : 2004-07-01 DOI: 10.1016/j.anngen.2004.04.002

Marie-Antoinette Voelckel , Lydie Girardot , Bernard Giusiano , Nicolas Levy , Nicole Philip

引用次数: 9