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Annales de genetique最新文献

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De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis. 一个身材矮小且性腺发育不良的女孩的新生复制xq22-q23。
Annales de genetique Pub Date : 1999-01-01
L Correa-Cerro, D Garcia-Cruz, M X Ruiz, J Sanchez-Corona
{"title":"De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.","authors":"L Correa-Cerro,&nbsp;D Garcia-Cruz,&nbsp;M X Ruiz,&nbsp;J Sanchez-Corona","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"42 1","pages":"41-4"},"PeriodicalIF":0.0,"publicationDate":"1999-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21084885","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
Pericentromeric heteromorphism of human chromosome 18 as revealed by FISH-technique. 用fish技术研究人类18号染色体的近中心异型性。
Annales de genetique Pub Date : 1998-01-01
R S Verma, L Ishwar, S K Gogineni, S M Kleyman
{"title":"Pericentromeric heteromorphism of human chromosome 18 as revealed by FISH-technique.","authors":"R S Verma,&nbsp;L Ishwar,&nbsp;S K Gogineni,&nbsp;S M Kleyman","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The pericentromeric heterochromatin contains tandemly repeated alphoid DNA sequences of about 171 bp in length. They are highly divergent from one chromosome to another due to chromosome specific alphoid subsets. In the present investigation, we used chromosome 18-specific centromeric probe (D18Z1) to evaluate the extent of pericentromeric heteromorphism classified by FISH-technique among 25 normal individuals. The hybridization signals were arbitrarily classified into five sizes when compared with the length of the short arm of chromosome 18. These are: negative (1), small (2), medium (3), large (4), and very large (5), with incidence of 0, 12, 24, 42, and 22 percent, respectively. Based on limited data, there were no chromosomes with negative signals while 42% of chromosome 18 had large-sized pericentromeric heterochromatin. The incidence observed earlier by restriction endonuclease Alu1 was different as compared to the present approach suggesting the complex heterogeneity of pericentric region of chromosome 18.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"154-6"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743662","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
Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. 比较基因组杂交与常规核型和经典荧光原位杂交在产前和产后诊断不平衡染色体异常的比较。
Annales de genetique Pub Date : 1998-01-01
J M Lapierre, V Cacheux, N Collot, F Da Silva, N Hervy, D Rivet, S Romana, J Wiss, B Benzaken, A Aurias, G Tachdjian
{"title":"Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities.","authors":"J M Lapierre,&nbsp;V Cacheux,&nbsp;N Collot,&nbsp;F Da Silva,&nbsp;N Hervy,&nbsp;D Rivet,&nbsp;S Romana,&nbsp;J Wiss,&nbsp;B Benzaken,&nbsp;A Aurias,&nbsp;G Tachdjian","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The comparative genomic hybridization (CGH) technique was initially used for detection of chromosomal imbalances in tumor cells. CGH can also be used as a supplementary method to karyotypic analysis in clinical cytogenetic cases. In order to evaluate CGH usefulness in prenatal and postnatal analysis of whole chromosome and segmental aneusomies, we investigated 13 clinical samples from blood, cultured chorionic villi, cultured amniotic fluids and uncultured amniotic fluids. These specimens, initially analyzed by conventional cytogenetics, included 5p monosomy, 9p duplication, add 6p, unbalanced translocation between chromosomes 5 and 10, mosaic tetrasomy 12p (50%), unbalanced (X;X) translocation and Prader-Willi deletion (15q11-13). In addition, six numerical chromosome aberrations (tetrasomy X, trisomies 13, 18, 21 and monosomy X) were analysed. All the chromosomal abnormalities, except the Prader-Willi deletion, were correctly detected by CGH. Here, we have demonstrated that the CGH technique is an alternative to classical fluorescence in situ hybridization using specific probes for detection of the unbalanced chromosomal aberrations in prenatal and postnatal diagnosis and could be used for rapid prenatal screening for unbalanced aberrations.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"133-40"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743659","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
Assessment of chromosomal heterogeneity in tumoral cell lines using PRINS technique. 利用PRINS技术评估肿瘤细胞系的染色体异质性。
Annales de genetique Pub Date : 1998-01-01
F Pellestor, B Andreo, P Coullin
{"title":"Assessment of chromosomal heterogeneity in tumoral cell lines using PRINS technique.","authors":"F Pellestor,&nbsp;B Andreo,&nbsp;P Coullin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The primed in situ (PRINS) labeling technique has been used for the interphase cytogenetic investigation of 3 colon cancer cell lines (Caco-2, TC7 and PF1 1) derived from a same primary tumor. A panel of 10 chromosome-specific primers (for chromosomes 1, 2, 3, 7, 8, 9, 10, 13, 16 and 18) has been utilized in simple and double color PRINS reactions. Each cell line displayed a heterogeneous distribution of copy number for several chromosomes. The karyotypic heterogeneity was also significant between the 3 cell lines. These data indicate the common occurrence of chromosome heterogeneity in tumoral cell lines and demonstrate the feasibility of interphase PRINS procedure for analysis of numerical changes in tumoral cells.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"141-8"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743660","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
Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case. 染色体内插入引起的重复10q22.1-q25.1:第二例。
Annales de genetique Pub Date : 1998-01-01
P W Goss, L Voullaire, R J Gardner
{"title":"Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case.","authors":"P W Goss,&nbsp;L Voullaire,&nbsp;R J Gardner","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This is the second reported case of duplication for the segment 10q22.1-q25.1, the first having been in a fetal case. The phenotype is documented in a 12 year old girl, who is mentally retarded and has a distinctive facial dysmorphology.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"161-3"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743664","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
A patient with 13q-syndrome with mild mental retardation and with growth retardation. 13q综合征伴轻度智力迟钝和生长迟缓1例。
Annales de genetique Pub Date : 1998-01-01
C Stoll, Y Alembik
{"title":"A patient with 13q-syndrome with mild mental retardation and with growth retardation.","authors":"C Stoll,&nbsp;Y Alembik","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a patient with deletion 13q33.3-->qter having growth retardation but no severe mental retardation. He was microcephalic and had hypotonia, large, low set ears, depressed nasal bridge, hypertelorism, small chin, high and broad forehead and bilateral simian creases. FISH was carried out using a telomeric probe of chromosome 13. Only one chromosome 13 showed a signal. Whole chromosome 13 probe showed that there was no 13q material on another chromosome. The karyotypes of the parents were normal.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"209-12"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20787989","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
Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31). 父亲顺中心插入(或臂内移位)后畸形儿童的间质缺失(3)(p12p21) 46,XY, ins(3)(p24.1p12.1p21.31)。
Annales de genetique Pub Date : 1998-01-01
R A Pfeiffer, A Rauch, R Ulmer, E Beinder, U Trautmann
{"title":"Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).","authors":"R A Pfeiffer,&nbsp;A Rauch,&nbsp;R Ulmer,&nbsp;E Beinder,&nbsp;U Trautmann","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This observation reminds similar cases that had been considered exceptions to the expected meiotic recombination of paracentric inversions and points to a cytogenetic pitfall. Published deletions and paracentric inversions in 3p are briefly quoted.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"17-21"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519253","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
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. 不寻常的de novo t(13;15)(q12.1;p13)易位导致复杂的镶嵌现象，包括跳跃易位。
Annales de genetique Pub Date : 1998-01-01
P Petit, K Devriendt, J R Vermeesch, P De Cock, J P Fryns
{"title":"Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.","authors":"P Petit,&nbsp;K Devriendt,&nbsp;J R Vermeesch,&nbsp;P De Cock,&nbsp;J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a patient with neurosensory deafness, cataract and moderate mental retardation showing a constitutional mosaicism with the predominant cell line consisting of a 45,XY,-13,-15,+t(13;15) translocation of the Robertsonian type. By means of fluorescence in situ hybridization (FISH) using a panel of acrocentric pericentromeric probes and various banding techniques, the breakpoints in the translocation were determined at 13q12.1 and 15p13 respectively. Five other cell lines were present, at low percentage, one of them showing a t(13;15) tandem translocation. Interstitial telomeric sequences could be detected at the translocation fusion sites in both the Robertsonian and tandem translocations. The mosaicism appears therefore to be a consequence of chromosomal instability involving the t(13;15) fusion region of the predominant cell line, and related to the presence of interstitial telomeric sequences. The present observation suggests that in the pericentromeric 13q12 region, a gene involved in neurosensory deafness may be located.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"22-6"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519254","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
Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus. 三体(12p)，胎儿染色体形成远心和假等心。
Annales de genetique Pub Date : 1998-01-01
A Plaja, C Mediano, I Farran, T Vendrell, N Toran, T Gili, M A Sanchez, E Sarret
{"title":"Trisomy (12p) with telocentric and pseudoisodicentric chromosome formation in a fetus.","authors":"A Plaja,&nbsp;C Mediano,&nbsp;I Farran,&nbsp;T Vendrell,&nbsp;N Toran,&nbsp;T Gili,&nbsp;M A Sanchez,&nbsp;E Sarret","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report an 18-week-old fetus with at 47, XY, -12, +12q, +psu idic(12p) karyotype, mild dysmorphic features and absence of the brachiocephalic truncus.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"52-5"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519846","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
Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis? 布列塔尼地区C282Y突变的患病率:遗传性血色素沉着症的外显率?
Annales de genetique Pub Date : 1998-01-01
A M Jouanolle, P Fergelot, M L Raoul, G Gandon, M Roussey, Y Deugnier, J Feingold, J Y Le Gall, V David
{"title":"Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?","authors":"A M Jouanolle,&nbsp;P Fergelot,&nbsp;M L Raoul,&nbsp;G Gandon,&nbsp;M Roussey,&nbsp;Y Deugnier,&nbsp;J Feingold,&nbsp;J Y Le Gall,&nbsp;V David","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the most frequent inherited disease in the populations of Northern European origin, its prevalence in Brittany had not been evaluated yet. In this issue we report the C282Y mutation frequency in a cohort of 1000 newborns from maternity hospitals of the four breton départements. The homozygote frequency was 5/1000 and heterozygote frequency was 12%; such high frequencies raise the question of the penetrance of the disease and the relevance of systematic genotypic screening for hemochromatosis.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"195-8"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20787456","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
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