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Journal de genetique humaine最新文献

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[Detection of triple X syndrome during a familial inquiry for hemophilia A]. 血友病a家族调查中X综合征的检测
Journal de genetique humaine Pub Date : 1989-06-01
H Plaisancie, G Bourrouillou, P Calvas, P Colombies
{"title":"[Detection of triple X syndrome during a familial inquiry for hemophilia A].","authors":"H Plaisancie,&nbsp;G Bourrouillou,&nbsp;P Calvas,&nbsp;P Colombies","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In order to give a genetic counsel to the mother and the two twin-sisters of an Hemophilia A boy, a familial investigation has been carried out. The study with the restriction fragment length polymorphism probes together with the hemostasis screening enabled to specify the status of each member of the family with respect to hemophilia A gene. This investigation evidenced the presence of two maternal alleles and one paternal allele in one of the twin-sisters. This led us to assume that she had a chromosomal abnormality in spite of her normal phenotype. The 47, XX, +(X) result of her karyotype confirmed this assumption. Therefore an accurate genetic counsel was provided to the members of this family and more particularly to the triple X subject.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"149-53"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13712234","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
[Linkage studies in Emery-Dreifuss muscular dystrophy]. [Emery-Dreifuss肌营养不良的连锁研究]。
Journal de genetique humaine Pub Date : 1989-06-01
V Paquis, N Philip, M A Voelckel, J Pouget, B Lemieux, J F Mattei, F Giraud
{"title":"[Linkage studies in Emery-Dreifuss muscular dystrophy].","authors":"V Paquis,&nbsp;N Philip,&nbsp;M A Voelckel,&nbsp;J Pouget,&nbsp;B Lemieux,&nbsp;J F Mattei,&nbsp;F Giraud","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report linkage studies between Emery-Dreifuss muscular dystrophy (EDMD) and polymorphic probes from the long arm of chromosome X in two pedigrees. The results don't show significant linkage but are consistent with previous localisation of EDMD in Xq28. Further studies will be necessary to apply molecular biology to genetic counselling and prenatal diagnosis of this disease.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 2","pages":"127-32"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13886659","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
[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon]. 分子生物学对预防囊性纤维化的贡献。在里昂的经历]。
Journal de genetique humaine Pub Date : 1989-01-01
P Guibaud, M Auvinet, D Bozon, I Maire, V Chambon, F Chevallier, M Mathieu, J André, M P Cordier-Alex, J P Chazalette
{"title":"[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon].","authors":"P Guibaud,&nbsp;M Auvinet,&nbsp;D Bozon,&nbsp;I Maire,&nbsp;V Chambon,&nbsp;F Chevallier,&nbsp;M Mathieu,&nbsp;J André,&nbsp;M P Cordier-Alex,&nbsp;J P Chazalette","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Enzymatic prenatal diagnosis of cystic fibrosis was performed in 113 amniotic fluids and DNA polymorphism was studied in 104 families, including 28 cases with prenatal material analysis. According to the results, the enzymatic diagnosis should be cautiously interpreted when the risk is less than 1/4. In these situations DNA analysis in the parents is very helpful to assess the reliability of enzymatic diagnosis.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"43-9"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13708361","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
Mosaic trisomy 9 detected by amniocentesis. 羊膜穿刺术检测9号镶嵌三体。
Journal de genetique humaine Pub Date : 1989-01-01
M Freud, N Witters, M van Lierde, S Grosseye, M Goret-Nicaise, M C Manzanares, P de St Georges, R de Meyer
{"title":"Mosaic trisomy 9 detected by amniocentesis.","authors":"M Freud,&nbsp;N Witters,&nbsp;M van Lierde,&nbsp;S Grosseye,&nbsp;M Goret-Nicaise,&nbsp;M C Manzanares,&nbsp;P de St Georges,&nbsp;R de Meyer","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"87-9"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856023","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
[Stature after 18 months of treatment with synthetic growth hormone in 12 patients with Turner's syndrome]. [12例特纳氏综合征患者接受合成生长激素治疗18个月后的身高]。
Journal de genetique humaine Pub Date : 1989-01-01
B Leheup, M Pierson
{"title":"[Stature after 18 months of treatment with synthetic growth hormone in 12 patients with Turner's syndrome].","authors":"B Leheup,&nbsp;M Pierson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The increased availability of recombined human growth hormone (rhGH) allows its possible use in clinical situations not classically recognized as regular indications. Among these, the Turner's short stature is presently under experimental evaluation for its responsiveness to rhGH. Twelve patients, 10 with a 45, X karyotype, 1 46 XXiq, and 1 mosaicism, have been given rhGH at a dosage of 0.15 U/kg per injection six times a week. Mean age at onset of treatment was 12.8, mean growth retardation was 4.1 SDS according to Sempé. After 18 months of treatment mean growth catch-up was 0.9 SDS. Maximal velocity was reach during the first trimester of treatment and decreased thereafter but was above normal for bone age in all but 2 after 18 months. The bone age increased less than structural age. No side effects were reported. At the present time the efficacy of rhGH in increasing final height in Turner's patients is likely but not demonstrated by any studies. The exact place of ovarian substitution, even during the prepubertal period, is still matter of discussion. Since the velocity response to rhGH was maximal among the youngest patients an early diagnosis of the syndrome will likely be necessary to improve final stature.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"55-60"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856020","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
[Argininosuccinic aciduria. A new case revealed by psychiatric disorders]. [Argininosuccinic酸尿。一个由精神疾病揭示的新病例]。
Journal de genetique humaine Pub Date : 1989-01-01
S Odent, M Roussey, H Journel, P Betremieux, V David, B Le Marec
{"title":"[Argininosuccinic aciduria. A new case revealed by psychiatric disorders].","authors":"S Odent,&nbsp;M Roussey,&nbsp;H Journel,&nbsp;P Betremieux,&nbsp;V David,&nbsp;B Le Marec","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The case of a 4 years old boy, hospitalized for an unexplained coma, is reported. He is the first child of a non-consanguin couple. The psychomotor development of this child was considered as normal up to the age of 18 months; then, a delay in language development, behaviour disorders with an important instability interrupted by episodes of somnolence, were observed. This child was treated for psychotic disorders. At the age of 3 and half, he had two episodes of seizures associated with fever. He was hospitalized for a 24 hours coma (4 years old). An hepatomegaly and a dry, brittle hair were then observed. Hyperammonemia was made obvious by a protein tolerance test. The diagnosis of argininosuccinate lyase (ASAL) deficiency was based on the increased levels of ASA in plasma and urine. The deficiency was proved by a fibroblast culture. With protein restriction, hepatomegaly disappeared, hair became normal, the behaviour disorders and the delay in language development was improved. However, some school difficulties persist. This case shows that an hereditary metabolic syndrome can be revealed by psychotic like symptoms in childhood.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"39-42"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856019","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
[Chorionic villus sampling (CVS): level of activity and methods to resolve certain difficulties in interpretation]. [绒毛膜绒毛取样(CVS):活动水平和解决某些解释困难的方法]。
Journal de genetique humaine Pub Date : 1989-01-01
C D Delozier-Blanchet, P Extermann, M A Morris, E Engel
{"title":"[Chorionic villus sampling (CVS): level of activity and methods to resolve certain difficulties in interpretation].","authors":"C D Delozier-Blanchet,&nbsp;P Extermann,&nbsp;M A Morris,&nbsp;E Engel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>As of December 1, 1988, we had, as part of our prenatal diagnostic service, studied 458 transcervical chorionic villus biopsies. Three-fourths of these samples were taken because of advanced maternal age (greater than or equal to 35 years), whereas nearly one fifth were done to alleviate parental anxiety. The remainder were performed because of a precedent chromosomal anomaly in child or parent, to determine fetal sex in the case of X-linked familial disorders, or to obtain DNA for molecular analyses. Among the cytogenetic anomalies detected after 24 to 48 hours of culture, eight involved classical trisomies. In four other instances the chromosomal abnormalities were more difficult to interpret (mosaic trisomies 10, 13 and 15, an apparently uniform trisomy 7). All four were revealed to be \"false positives\", since neither the amniocenteses nor the karyotypes of the normal newborns (one pregnancy is still ongoing) confirmed an abnormal karyotype. In the case of the trisomy 7 we were able, after birth of the baby, to study two placental biopsies, one of which revealed an abnormality distinct from that detected in the chorionic villi. The observations concerning a fifth false positive are more worrisome, as an apparently uniform trisomy 18, with a fetus showing growth retardation on ultrasound, could not be confirmed in the abortus. Otherwise, we have not encountered a false negative result. In this article we discuss the mechanisms potentially responsible for the cytogenetic discrepancies sometimes observed between fetal and placental tissues. Molecular analyses may help to establish whether a chromosomal anomaly present in fetal chorionic villi had its origin in the pre- or post-zygotic stage; in the latter case the aneuploidy may be uniquely extrafetal.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"61-9"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856021","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
[Proceedings of the 14th seminar of the European Club of Genetic Counseling. Clermont-Ferrand, 12-14 September 1988]. [第14届欧洲遗传咨询俱乐部研讨会论文集]。克莱蒙费朗，12-14 September 1988]。
Journal de genetique humaine Pub Date : 1989-01-01
{"title":"[Proceedings of the 14th seminar of the European Club of Genetic Counseling. Clermont-Ferrand, 12-14 September 1988].","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"1-92"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856015","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
[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome]. [14例Prader-Labhart-Willi综合征的临床及生物学研究]。
Journal de genetique humaine Pub Date : 1989-01-01
P Mujica, B Leheup, S Gilgenkrantz, J C Karp, M Pierson
{"title":"[Clinical and biological studies of 14 cases of the Prader-Labhart-Willi syndrome].","authors":"P Mujica,&nbsp;B Leheup,&nbsp;S Gilgenkrantz,&nbsp;J C Karp,&nbsp;M Pierson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Clinical and cytogenetic studies are performed on 14 patients with PWS including endocrinological investigations, as coagulation factor XI activity and pigmentation studies. Recent hypothesis from molecular analysis are discussed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"77-86"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856022","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
[The geneticist and the psychiatrist]. [遗传学家和精神病学家]。
Journal de genetique humaine Pub Date : 1989-01-01
J M Robert
{"title":"[The geneticist and the psychiatrist].","authors":"J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The author describes three different opportunities requiring a desirable collaboration between the geneticist and the psychiatrist: 1. More detailed analysis of the psychologic fallout inside a family with an handicapped person. 2. How a geneticist may contribute to a medical progress inside a psychiatric institution. 3. The possible convergence of their efforts in some fields of the neuropsychiatric research.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 1","pages":"3-12"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13856018","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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