Acta geneticae medicae et gemellologiae最新文献_第9页

No evidence for genomic imprinting in liver-born Down syndrome patients. 没有证据表明肝出生的唐氏综合征患者存在基因组印记。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001434

C Stoll, Y Alembik, B Dott, J Feingold

引用次数: 3

Fragile X syndrome in humans and mice. 人类和老鼠的脆性X综合征。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001173

B A Oostra

引用次数: 9

Life situation, self reported health and coping ability of 35-year old twins and controls--a follow-up of a longitudinal Swedish twin study at adolescence. 35岁双胞胎和对照组的生活状况、自我报告的健康和应对能力——对瑞典双胞胎青少年纵向研究的随访

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000805

A L Lange, S Fischbein

{"title":"Life situation, self reported health and coping ability of 35-year old twins and controls--a follow-up of a longitudinal Swedish twin study at adolescence.","authors":"A L Lange, S Fischbein","doi":"10.1017/s0001566000000805","DOIUrl":"https://doi.org/10.1017/s0001566000000805","url":null,"abstract":"During the years 1964 to 1971 a nationally representative sample of MZ and DZ twins and controls was followed through the Swedish compulsory school. The main purpose was to study physical and mental growth during puberty as well as heredity-environment influences on these growth processes. After 20 years a follow-up has been made of this sample with the purpose of investigating heredity-environment influences on life situation and self reported health at mid-life in relation to background factors collected during adolescence. 43 pairs of MZ twins, 90 pairs of DZ same sex and opposite sex twins as well 322 controls agreed to participate. A questionnaire was sent out to this group dealing with their present life situation such as family structure, economy, education and occupation. Other areas of interest were self reported health and ability to cope with their present life situation. The disadvantages found for MZ female twins at adolescence seem to persist at mid-life and ratings of school adjustment were related to coping ability as grown ups. This first report presents comparisons between twins and controls as well as males and females. To estimate heredity influences intraclass correlations for the twin pairs are calculated and for coping ability such influences seem to be quite conspicuous. Sex specific factors seem to operate regarding coping ability and satisfaction in educational choice and level. Generally, the results-indicate some advantages for the males regarding self reported life situation and health. Possible reasons for such sex differences are discussed. This study has been supported by grants from the Swedish Council for Social Research.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 4","pages":"405-16"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000805","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20127460","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: 3

Management and outcomes of 65 quadruplet pregnancies: sixteen years' experience in France. 65例四胞胎妊娠的管理和结果:法国16年的经验。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000969

J C Pons, L Nekhlyudov, N Dephot, S Le Moal, E Papiernik

{"title":"Management and outcomes of 65 quadruplet pregnancies: sixteen years' experience in France.","authors":"J C Pons, L Nekhlyudov, N Dephot, S Le Moal, E Papiernik","doi":"10.1017/s0001566000000969","DOIUrl":"https://doi.org/10.1017/s0001566000000969","url":null,"abstract":"Objective: Data on the prognosis and management of multifetal pregnancies are of vital importance, particularly when the option of selective termination is considered. The present study details the obstetric management, neonatal outcome, and follow-up data of 65 quadruplet pregnancies in France.Methods: To conduct the study, a questionnaire was sent to families registered with the National Association Helping Parents of Multiple Births (Association National d'Entraide des Parents de Naissance Multiples, A.N.E.P.N.M.).Results: Of 116 questionnaires sent to families of quadruplets born between 1972 and 1988, 65 were received. Of these pregnancies, 58 were obtained with ovulation induction agents, 2 with IVF (in vitro fertilization) and GIFT (gamete intrafallopian transfer) and 5 were spontaneous. Diagnosis was made prior to 13 weeks gestation in 87.2% of cases. Most mothers were hospitalized prior to delivery--mean duration of 47 days. The mean gestational age at delivery was 31.2 +/- 3 weeks with a prematurity rate of 97%. Cesarean sections were performed in 51 cases and vaginal deliveries in 14. Neonatal and perinatal mortality rates were 68 and 104 per 1000, respectively. Birthweights of quadruplets ranged from 760 to 2455 g with a mean of 1615 g.Conclusion: Management of quadruplet pregnancies in France consists of early diagnosis, echographical and clinical monitoring, early reduction of maternal activity and cesarean deliveries. Our management of such pregnancies is of high quality as reflected by our obstetrical results. Lack of adequate management, as perceived by families of quadruplets, exists at two levels; a psychological (lack of psychological support) and a financial (lack of specific help).","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 3","pages":"367-75"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000969","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19975479","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

FRAXA and FRAXE: new tools for the diagnosis of mental retardation. FRAXA和FRAXE:诊断智力迟钝的新工具。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001501

A Murgia, C Vinanzi, R Polli, L Artifoni, F Zacchello

引用次数: 0

Uniparental disomy and genomic imprinting in humans. 人类的单亲二体和基因组印记。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001239

A Schinzel

{"title":"Uniparental disomy and genomic imprinting in humans.","authors":"A Schinzel","doi":"10.1017/s0001566000001239","DOIUrl":"https://doi.org/10.1017/s0001566000001239","url":null,"abstract":"Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans. First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one homologue in a parent and on both in one offspring [2] and where there was transmission of an interhomologous Robertsonian translocation (of chromosome 22) from a healthy mother to healthy offspring [3-4]. In mice, UPD was experimentally produced by crossing two mice lines with different Robertsonian translocations both involving the same chromosome [for 2 review see ref. 5]. Through this approach, it was possible to define imprinted regions, chromosomes and chromosomal segments for which either maternal or paternal or both types of uniparental disomy led to phenotypic abnormalities. The latter are explained by genomic imprinting, the differential silencing of a gene or genes from one of the parents (the mother or the father) during any stage of embryogenesis or later in life. If, for example, the maternal homologue of a given gene is imprinted (and hence only the paternal allele is active), maternal UPD would lead to loss of the active allele and thus might cause consequences due to loss of function.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"145-52"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001239","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19838572","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

Combined molecular and cytogenetic analysis for the rapid diagnosis of fragile X syndrome. 结合分子和细胞遗传学分析快速诊断脆性X综合征。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000001252

C Bussani Mastellone, M L Giovannucci Uzielli, M Grasso, P Chiurazzi, G Neri, Q Wang

引用次数: 0

Prenatal ultrasound diagnosis of cystic hygroma occurring in twin pregnancies. 双胎妊娠囊性水肿的产前超声诊断。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000994

W Malinowski, I Biskup

引用次数: 0

Study on possible increase in twinning rate at a small village in south Brazil. 对巴西南部一个小村庄可能增加的双胞胎率的研究。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000829

U Matte, M G Le Roux, B Bénichou, J P Moisan, R Giugliani

{"title":"Study on possible increase in twinning rate at a small village in south Brazil.","authors":"U Matte, M G Le Roux, B Bénichou, J P Moisan, R Giugliani","doi":"10.1017/s0001566000000829","DOIUrl":"https://doi.org/10.1017/s0001566000000829","url":null,"abstract":"A high frequency of twin births has been observed in Linha São Pedro, a small settlement which belongs to the city of Cãndido Godói, located 524 km Northwest from Porto Alegre, Rio Grande do Sul, Brazil, in an ethnically homogeneous population of German descent restricted to a small geographic region. From 1990 to 1994, the proportion of twin births in Linha São Pedro was 10%, significantly higher than the 1.8% rate for the state of Rio Grande do Sul as a whole. Genealogical analysis showed a high recurrence of multiple births within families, as well as a high level of inbreeding in the community. Zygosity data indicated that 9 of the 17 pairs of twins studied (53%) were dizygotic. No external environmental factors were detected that could be influencing the appearance of this characteristic. This preliminary investigation confirmed the presumed existence of a high twinning rate in the community. The high familial recurrence and the high inbreeding rate suggests the presence of genetic twinning factors. Complementary studies of twins that have yet to be evaluated and the search for additional risk factors, as well as linkage studies, should contribute to a further understanding of the biological factors related to twin births in the human species.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 4","pages":"431-7"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000829","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20127462","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: 22

Cognitive development and behaviour in very low birthweight twins at four years. 四岁时极低出生体重双胞胎的认知发展和行为。

Acta geneticae medicae et gemellologiae Pub Date : 1996-01-01 DOI: 10.1017/s0001566000000921

J A Dezoete, B A MacArthur

{"title":"Cognitive development and behaviour in very low birthweight twins at four years.","authors":"J A Dezoete, B A MacArthur","doi":"10.1017/s0001566000000921","DOIUrl":"https://doi.org/10.1017/s0001566000000921","url":null,"abstract":"This study included two groups of 37 children, one of twins and the other singletons at 4 years of age. All subjects has birthweights under 1500 grams and individuals in the groups were matched for birth date, gender and birthweight. Except when parental socio-economic status was taken into account, no significant differences between twins and singletons were observed on any of the results of The Stanford-Binet Intelligence Scale, nor were there any when the twins and singletons were divided into groups with birthweights < 1000 grams and 1000 to 1499 grams. When cognitive scores were analysed in relation to socio-economic status, there were significant differences in the whole population between subjects in the high and low socioeconomic status groups, with higher mean scores for the former. Comparison of the twins and singletons with parents in the lower socio-economic status group did not produce any significant differences but in the case of the upper socio-economic status group the singletons scored significantly better than the twins in Quantitative Reasoning and on the Composite Score. No significant differences were demonstrated in the clinical assessment of speech, language or behaviour. So far as general life considerations and health were concerned only one significant difference was found and this was for the number of siblings born subsequently, with more born in the singleton families. This study did not provide support for the view that singletons and twins differ significantly in the areas considered.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 3","pages":"325-32"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000000921","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19975475","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: 7