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Annales de genetique最新文献

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Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours. 利用脐带穿刺获得的胎儿血液进行产前核型:24小时内快速准确的结果。
Annales de genetique Pub Date : 1998-01-01
S A Tharapel, V G Dev, L P Shulman, A T Tharapel
{"title":"Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours.","authors":"S A Tharapel,&nbsp;V G Dev,&nbsp;L P Shulman,&nbsp;A T Tharapel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Spontaneously-dividing nucleated erythrocytes present in prenatal cordocentesis samples can be used to obtain fetal karyotype information within 24 hours. Following a modified protocol we performed rapid chromosome analysis on fetal blood from 70 second- and third-trimester fetuses. In all cases cordocentesis was performed following detection of ultrasound abnormalities. Cytogenetic diagnoses were obtained within 24 hours from 59 (84.3%) of the 70 samples. Follow-up chromosome analysis from mitogen-stimulated cultures showed concordant results in 57 of the 59 successful cases. In one case a mosaicism for 45, X[4]/46,X,i(X)(q10)[4] was detected in unstimulated harvest while mitogen-stimulated preparations showed only the 46,X,i(X)(q10) line. In the second case, a marker chromosome was identified in all 5 cells analyzed from the unstimulated harvest while mitogen-stimulated cultures showed only 4 out of 100 cells with the marker.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 2","pages":"69-72"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20622384","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
Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family. CF突变和5T剪接变异的复合杂合子与一个法国家庭的可变表现相关。
Annales de genetique Pub Date : 1998-01-01
T Bienvenu, J Lepercq, J P Allard, D Hubert, C Francoual, C Beldjord, J C Kaplan
{"title":"Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.","authors":"T Bienvenu,&nbsp;J Lepercq,&nbsp;J P Allard,&nbsp;D Hubert,&nbsp;C Francoual,&nbsp;C Beldjord,&nbsp;J C Kaplan","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"63-4"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519848","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
Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype. 成年1q部分三体(1q32- >1qter):进一步描述表型。
Annales de genetique Pub Date : 1998-01-01
G Van Buggenhout, L De Coen, J P Fryns
{"title":"Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.","authors":"G Van Buggenhout,&nbsp;L De Coen,&nbsp;J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Trisomy 1q is a rare condition frequently reported in association with other chromosomal abnormalities. An adult female patient had partial trisomy of the long arm of chromosome 1 (1q32.3-->qter) and partial monosomy of the short arm of chromosome 8 (8p23-->pter) of de novo origin. Clinical features in adulthood included mental retardation, short stature, long narrow face, brachycephaly, synophrys, small downward slanting palpebral fissures and long nose. Standard cytogenetic techniques in combination with fluorescence in situ hybridisation (FISH) studies were performed to determine the origin of the extra chromosomal material.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 2","pages":"77-81"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20622898","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
Orofacial cleft defects: inference from nature and nurture. 唇腭裂缺陷:先天与后天的推论。
Annales de genetique Pub Date : 1998-01-01
C Houdayer, M Bahuau
{"title":"Orofacial cleft defects: inference from nature and nurture.","authors":"C Houdayer,&nbsp;M Bahuau","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cleft lip with or without cleft palate (CL/P), and cleft palate (CP) are most common congenital malformation conditions. Prognosis mainly rests on the possibility of associated symptoms, since more than a hundred recognised Mendelian disorders involve this orofacial defect (thereby defining syndromic CL/P, or CP). Multiplex non-syndromic CL/P, or CP families indicate that genetic factors are likely involved in causation. Inheritance is generally regarded as multigenic, allelic variation at different loci (TGF alpha, TGF beta 3, RARA) determining a fraction of the genetic risk, as demonstrated by association or transmission/disequilibrium non-parametric tests. Some pedigrees are however clearly monogenic, consistent with either autosomal dominant or recessive inheritance. X-linked recessive CP (with or without ankyloglossia) is an additional possibility. Significant linkage to 6p23 (EDN1) or 19q13 (BCL3) could be achieved using parametric models with reduced penetrance. Environmental exposures were also demonstrated to interfere with lip and/or palatal formation when present during the first trimester of pregnancy. Whereas ethanol, retinoids or folate antagonists are clearly teratogenic, indictment of more common exposures such as caffeine is merely tentative. The development of animal models allowed to confirm the genetic bases of CL/P, or CP, exemplify the role of teratogens, and study the interaction of nature and nurture.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 2","pages":"89-117"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20622900","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 case of Costello syndrome with endocrine features. 伴有内分泌特征的科斯特洛综合征1例。
Annales de genetique Pub Date : 1998-01-01
I Yetkin, G Ayvaz, M Arslan, M Yilmaz, N Cakir
{"title":"A case of Costello syndrome with endocrine features.","authors":"I Yetkin,&nbsp;G Ayvaz,&nbsp;M Arslan,&nbsp;M Yilmaz,&nbsp;N Cakir","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The case of a 21-year-old woman with findings consistent with Costello syndrome (CS) is reported. Most previously reported cases of CS were in young children. In addition to the classic features, the patient had endocrine disturbances including secondary amenorrhea, goiter, and adrenal insufficiency. This last abnormality may be the cause of the hypoglycemic episodes seen in CS. Osteoporosis and anemia were additional features. This case provides new information on the endocrine features and prognosis of CS.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"157-60"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743663","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
Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature. 2名男性和2名女性患者因易位t(X;15)导致部分Xp重复:一份家族病例报告和文献回顾。
Annales de genetique Pub Date : 1998-01-01
M I Melaragno, M A Ramos, D Brunoni
{"title":"Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.","authors":"M I Melaragno,&nbsp;M A Ramos,&nbsp;D Brunoni","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"189-94"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20787455","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 novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. 早老素-1基因在墨西哥早发性阿尔茨海默病家族中的新Leu171Pro突变
Annales de genetique Pub Date : 1998-01-01
M G Ramirez-Dueñas, E A Rogaeva, C A Leal, C Lin, G A Ramirez-Casillas, J A Hernandez-Romo, P H St George-Hyslop, J M Cantu
{"title":"A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.","authors":"M G Ramirez-Dueñas,&nbsp;E A Rogaeva,&nbsp;C A Leal,&nbsp;C Lin,&nbsp;G A Ramirez-Casillas,&nbsp;J A Hernandez-Romo,&nbsp;P H St George-Hyslop,&nbsp;J M Cantu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A search for mutations in exons 6, 7, 9 and 12 of the PS1 gene in four Mexican families with Early-Onset (36-40 years) Alzheimer Disease yielded the discovery in one family of a T-->C mismatch in exon 7 which correspond to nucleotide 760 of cDNA, leading to a Leu171Pro mutation. The pedigree analysis and the literature data strongly suggest an etiopathogenic relationship of the mutation with the disorder.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 3","pages":"149-53"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20743661","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
An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries. 囊性纤维化患者登记中delta F508基因型的异常分布
Annales de genetique Pub Date : 1998-01-01
J Feingold, M Guilloud-Bataille, D De Crozes
{"title":"An abnormal distribution of delta F508 genotypes in cystic fibrosis patient registries.","authors":"J Feingold,&nbsp;M Guilloud-Bataille,&nbsp;D De Crozes","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Delta F508 mutation of the CFTR gene is the most frequent deleterious allele involved in cystic fibrosis (CF). We have studied the distribution of the three genotypes, delta F508/delta F508, delta F508/x, x/x, in the American, Canadian and French data registries concerning CF; \"x\" represents the non-delta F508 mutations. In the three registries the observed distribution of the three genotypes differs from the expected one, calculated according to the Hardy and Weinberg equilibrium. Three factors could explain this discrepancy: Wahlund's effect, misinterpretation of the molecular diagnosis, or an ascertainment bias in relation with the severity of the disease. This last factor is the most likely.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"31-3"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519256","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
Comparative genomic hybridization: technical development and cytogenetic aspects for routine use in clinical laboratories. 比较基因组杂交:临床实验室常规使用的技术发展和细胞遗传学方面。
Annales de genetique Pub Date : 1998-01-01
J M Lapierre, V Cacheux, F Da Silva, N Collot, N Hervy, J Wiss, G Tachdjian
{"title":"Comparative genomic hybridization: technical development and cytogenetic aspects for routine use in clinical laboratories.","authors":"J M Lapierre,&nbsp;V Cacheux,&nbsp;F Da Silva,&nbsp;N Collot,&nbsp;N Hervy,&nbsp;J Wiss,&nbsp;G Tachdjian","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Comparative genomic hybridization (CGH) offers a new global approach for detection of chromosomal material imbalances of the entire genome in a single experiment without cell culture. In this paper, we discuss the technical development and the cytogenetic aspects of CGH in a clinical laboratory. Based only on the visual inspection of CGH metaphase spreads, the correct identification of numerical and structural anomalies are reported. No commercial image analysis software was required in these experiments. We have demonstrated that this new technology can be set up easily for routine use in a clinical cytogenetics laboratory.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 1","pages":"56-62"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20519847","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
Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q. 在纯1q部分三体的成年男性患者中，颧突是最显著的生理异常。
Annales de genetique Pub Date : 1998-01-01
T Lukusa, G Van Buggenhout, K Devriendt, J Meireleire, G Van Goethem, L Roelen, J P Fryns
{"title":"Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.","authors":"T Lukusa,&nbsp;G Van Buggenhout,&nbsp;K Devriendt,&nbsp;J Meireleire,&nbsp;G Van Goethem,&nbsp;L Roelen,&nbsp;J P Fryns","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a dysmorphic and mentally retarded adult male patient with partial trisomy 1q resulting from a \"de novo\" tandem duplication of the 1q32.3-->q42 region. The dysmorphic features consisted of facial asymmetry, synophrys, right external strabismus, teeth anomalies and bilateral syndactyly of fingers III-IV and toes II-III evoking zygodactyly. Clinical comparison is made between the present observation and previously reported cases with pure duplication including the chromosome 1 segment (q32-->q42).</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"41 4","pages":"199-204"},"PeriodicalIF":0.0,"publicationDate":"1998-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20787987","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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