Human genetics. Supplement最新文献_第2页

Functional implications of gene dosage effects in trisomy 21. 21三体基因剂量效应的功能意义。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_12

C J Epstein, L B Epstein, D R Cox, J Weil

引用次数: 35

Asking for a prenatal diagnosis after the birth of a child with Down's syndrome. 在患有唐氏综合症的孩子出生后要求产前诊断。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_7

N Fresco, D Silvestre

{"title":"Asking for a prenatal diagnosis after the birth of a child with Down's syndrome.","authors":"N Fresco, D Silvestre","doi":"10.1007/978-3-642-68006-9_7","DOIUrl":"https://doi.org/10.1007/978-3-642-68006-9_7","url":null,"abstract":"Three years ago we undertook, in collaboration with André and Joëlle Boue (Inserm U 73), a research project investigating the psychological aspects of prenatal diagnosis following the earlier birth (and sometimes death) of a child with Down's syndrome. For this study we selected 20 couples who had requested such an examination. These couples present some particularities which justified, in our opinion, a specific study. In a few cases, one of the parents happened to be a carrier of a balanced chromosome translocation, but usually the trisomy was free. Moreover, the mother's age did not increase the risk factor. Our investigation was carried out on the basis of a series of one or several interviews, the man and the woman being seen separately. These unstructured interviews, with the fewest possible questions and interventions on our part, were tape-recorded with the permission of our subjects. We then analyzed the precise content of the typed texts of the these interviews. Two main topics emerged from this analysis: 1) The extreme impact of the birth of a child with Down's syndrome and the place and role of such a child in the family's life, and 2) The relationship between the parents and physician before and after the birth, including the request for a prenatal diagnosis.","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":"2 ","pages":"81-90"},"PeriodicalIF":0.0,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17282163","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

20 years later. 20年后。

Human genetics. Supplement Pub Date : 1981-01-01

J Lejeune

引用次数: 0

Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers. 唐氏综合征的皮肤印记特征检测镶嵌和平衡易位携带者。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_4

A Rodewald, K D Zang, H Zankl, M Zankl

{"title":"Dermatoglyphic peculiarities in Down's syndrome detection of mosaicism and balanced translocation carriers.","authors":"A Rodewald, K D Zang, H Zankl, M Zankl","doi":"10.1007/978-3-642-68006-9_4","DOIUrl":"https://doi.org/10.1007/978-3-642-68006-9_4","url":null,"abstract":"The combination of dermatoglyphic patterns and the number and intensity of traits characteristic for Down's syndrome can be statistically expressed by the \"Walker\" index and the \"general\" index. More than 96% of a Down's syndrome series and a control series could clearly be separated by the general index. Cytogenetic and dermatoglyphic features were studied in 17 patients with mosaic trisomy 21 and their parents. In the 17 cytogenetically diagnosed patients with mosaic Down's syndrome, a highly significant correlation was observed between the percentage of trisomic cells and the presence of traits characteristic for this syndrome in the dermatoglyphic patterns. The diagnostic problems and the value of dermatoglyphic examination in cases of mosaicism, where the trisomic cell line seems to have disappeared, is discussed. The results of our study also indicate an elevated incidence of a specific dermatoglyphic pattern combination with general index values similar to Down's syndrome in one parent in nearly 20% of Down's syndrome children. The possibility of hidden mosaicism in these parents of Down's syndrome children is discussed. Furthermore, the dermatoglyphic patterns in a large kindred with an inherited 15/21 translocation (21/41 carriers of the balanced translocation; 14/41 chromosomally normal; 6/41 mongoloid members) was analyzed. The data obtained from this translocation family and especially the values obtained in the general index indicate that some dermatoglyphic stigmata are directly associated with the D/21 translocation carrier state and can therefore be used for predicting this state.","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":"2 ","pages":"41-56"},"PeriodicalIF":0.0,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17282273","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

Epidemiology of trisomy 21: population, peri- and antenatal data. 21三体的流行病学:人口、围产期和产前数据。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_16

M Mikkelsen

{"title":"Epidemiology of trisomy 21: population, peri- and antenatal data.","authors":"M Mikkelsen","doi":"10.1007/978-3-642-68006-9_16","DOIUrl":"https://doi.org/10.1007/978-3-642-68006-9_16","url":null,"abstract":"In Down's syndrome, incidence of 1 0/00-2 0/00 have been reported in chromosomal surveys of consecutive liveborn infants and in population studies. Much attention has been focused on the influence of the decline in mean maternal age on the incidence of Down's syndrome. Decline in incidence and unchanged incidences have been reported. For mothers over 35 years old, a rise in incidence has been found in recent years in some societies. Environmental factors or seasonal fluctation might cause this trend. Data from antenatal diagnosis show a 30% higher incidence of Down's syndrome for age groups over 35 than population studies do. Late abortions of trisomic fetuses, a high perinatal mortality, and a small rise in incidence for higher maternal ages in recent years may account for this fact. With the growing tendency toward younger maternal age at childbirth, paternal factors also have to be considered. Between 10% and 30% paternal failures have been found by nondisjunction studies applying chromosomal variants. The rate of paternal failures may reflect environmental influences and young maternal age distribution. Recently, an increase in trisomy 21 children of mothers in the age group 30-39 who are pill users has been observed. The positive sex ratio of male Down's syndrome patients has been reversed in patients born to mothers using hormonal contraception. The mortality rate, in Down's syndrome is still high in early childhood, especially perinatally and in the 1st year of life. For the late 1940s in Denmark, newborns with Down's syndrome had a mortality rate of 53% in the 1st year of life. In the late 1960s and early 1970s, the rate had fallen to 22%. The main causes of death were congenital heart disease in connection with infections, especially pneumonia. Cot death might be more common in Down's syndrome. After the age of 1 year, mortality is reduced considerably and more and more cases will survive early childhood and live to rather old ages.","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":"2 ","pages":"211-26"},"PeriodicalIF":0.0,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17282270","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: 41

Structural variation of chromosome 21 and symptoms of Down's syndrome. 21号染色体结构变异与唐氏综合征的症状。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_13

M O Rethoré

引用次数: 15

Experiments on chiasmata and nondisjunction in mice. 小鼠交叉与不间断实验。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_10

P E Polani

引用次数: 2

Clinical aspects of Down's syndrome from infancy to adult life. 唐氏综合症从婴儿期到成年期的临床表现。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_2

M Tolksdorf, H R Wiedemann

引用次数: 30

Down's syndrome: problems of immunodeficiency. 唐氏综合症:免疫缺陷的问题。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_3

A G Ugazio

引用次数: 18

Human Genetic Variation in Response to Medical and Environmental Agents: Pharmacogenetics and Ecogenetics 人类遗传变异对医学和环境因素的反应:药物遗传学和生态遗传学

Human genetics. Supplement Pub Date : 1979-01-19 DOI: 10.1007/978-3-642-67179-1

F. Vogel, W. Buselmaier, W. Reichert, G. Kellermann, P. Berg

引用次数: 14