Human genetics. Supplement最新文献

Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism 恶性高热:一种遗传性肌肉钙代谢紊乱

Human genetics. Supplement Pub Date : 2015-01-01 DOI: 10.1016/B978-0-12-417044-5.00045-7

W. Klingler, F. Lehmann-Horn

引用次数: 3

Trisomy 21. An international symposium. Rapallo, Italy, November 8-10, 1979. 称21三体综合症。国际研讨会。意大利拉帕洛，1979年11月8日至10日。

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

引用次数: 0

Gene mapping and chromosome 21: history and methodology. 基因定位和21号染色体:历史和方法。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_11

E B Robson

引用次数: 0

Prenatal losses of trisomy 21. 21三体的产前损失。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_14

J Boué, C Deluchat, H Nicolas, A Boué

引用次数: 19

Pathology of trisomy 21--with particular reference to persistent common atrioventricular canal of the heart. 21三体的病理-特别涉及心脏持久的房室总管。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_5

H Rehder

{"title":"Pathology of trisomy 21--with particular reference to persistent common atrioventricular canal of the heart.","authors":"H Rehder","doi":"10.1007/978-3-642-68006-9_5","DOIUrl":"https://doi.org/10.1007/978-3-642-68006-9_5","url":null,"abstract":"<p><p>While certain external anomalies are specific and almost constant features in Down's syndrome, internal anomalies seem to be more variable in terms of frequency and severity. They may affect any organ system and are more often of minor clinical significance. However, severe malformations may occur. When they affect the cardiovascular system, postnatal survival is impaired, which is responsible for a distinctly higher incidence of cardiac and other malformations in younger children or neonates with Down's syndrome. Fetuses with trisomy 21 at midterm pregnancy show even more frequent manifestation of developmental disorders suggesting an increased spontaneous abortion rate in the second half of pregnancy. The analysis of malformations and minor anomalies in Down's syndrome compared to those of other chromosomal aberrations shows no absolute specificity but a tendency for certain developmental disturbances. These are characterized not so much by the organ system involved, but much more by the time in which the disturbance of a developmental process becomes evident, thus influencing type and localization of an anomaly. Particular reference is made to anomalies of the cardiovascular and cerebral system.</p>","PeriodicalId":75915,"journal":{"name":"Human genetics. Supplement","volume":"2 ","pages":"57-73"},"PeriodicalIF":0.0,"publicationDate":"1981-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17282274","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: 32

Incidence of Down's syndrome in Sweden during the years 1968-1977. 1968-1977年间瑞典唐氏综合症的发病率。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_15

Jan Lindsten, L. Marsk, K. Berglund, L. Iselius, Nils Ryman, G. Annéren, B. Kjessler, F. Mitelman, I. Nordenson, Jan Wahlström, L. Vejlens

引用次数: 54

Nondisjunction. 不分离。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_9

C E Ford

引用次数: 4

Incidence of Down's syndrome in Sweden during the years 1968-1977. 1968-1977年间瑞典唐氏综合症的发病率。

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

J Lindsten, L Marsk, K Berglund, L Iselius, N Ryman, G Annerén, B Kjessler, F Mitelman, I Nordenson, J Wahlström, L Vejlens

引用次数: 0

Down's syndrome and the family. 唐氏综合症和家庭。

Human genetics. Supplement Pub Date : 1981-01-01 DOI: 10.1007/978-3-642-68006-9_6

A Gath

引用次数: 19

Trisomy 21 称21三体综合症

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

引用次数: 20