Human genetics. Supplement最新文献

英文中文

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

Various cytogenetic studies of early spontaneous abortions have observed trisomy 21 in about 3% of the abortuses. Analyses of prenatal diagnosis performed during the 17th week of gestation and observations on late spontaneous abortions and perinatal deaths have also shown the importance of lethal trisomy 21 in the second half of pregnancy. From these studies, it can be estimated that at least four-fifths of conceptuses with trisomy 21 fail to survive. One important question is why the same chromosome anomaly in a zygote can lead either to an early arrest of development or to a liveborn infant. Pathologic examinations of spontaneously aborted embryos with trisomy 21 have rarely shown malformations that can explain the death of the embryo, but macroscopic and microscopic examinations of their placentas show growth retardation and hypoplasia. Analysis of in vitro growth characteristics of cell lines established from tissues of trisomy 21 embryos have demonstrated differences in cell population doubling times; this may explain variations in the developmental potentials of conceptuses with trisomy 21.

早期自然流产的各种细胞遗传学研究发现，约3%的流产中存在21三体。对妊娠第17周进行的产前诊断的分析以及对晚期自然流产和围产期死亡的观察也显示了致命的21三体在妊娠后半期的重要性。根据这些研究，可以估计至少有五分之四患有21三体的孕妇无法存活。一个重要的问题是，为什么受精卵中的同一条染色体异常可能导致发育早期停止，也可能导致活产婴儿。21三体自然流产胚胎的病理检查很少显示可以解释胚胎死亡的畸形，但其胎盘的肉眼和显微镜检查显示生长迟缓和发育不全。对21三体胚胎组织细胞系体外生长特性的分析表明，细胞群体倍增率存在差异;这也许可以解释患有21三体的孕妇发育潜力的差异。

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

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.

虽然某些外部异常是特定的，几乎是唐氏综合症的恒定特征，但内部异常在频率和严重程度方面似乎更加多变。它们可能影响任何器官系统，但通常临床意义不大。然而，严重的畸形可能会发生。当它们影响心血管系统时，出生后的生存受到损害，这是导致患有唐氏综合症的幼儿或新生儿心脏和其他畸形发生率明显较高的原因。怀孕中期患有21三体的胎儿表现出更频繁的发育障碍，这表明在怀孕后半期自然流产率增加。与其他染色体畸变相比，对唐氏综合症的畸形和轻微异常的分析没有绝对的特异性，但有一定的发育障碍的趋势。它们的特征不在于所涉及的器官系统，而在于发育过程的干扰变得明显的时间，从而影响异常的类型和定位。特别提到了心血管和大脑系统的异常。

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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

The incidence of Down's syndrome has been studied among children born in Sweden during the years 1968-1977. The risk for mothers of different ages of bearing such a child did not change during these years. This does not exclude that a change in incidence might have occurred in smaller areas of the country but escaped detection for statistical reasons. A higher than expected number of children with Down's syndrome were born in a few communities, which most likely is a chance event. No correlation could be detected between the incidence of Down's syndrome and a number of socioeconomic variables. The correlation with maternal age was studied in detail. There was a significant excess of males among both the newborn children with Down's syndrome and fetuses with trisomy 21 aborted after prenatal diagnosis. A similar tendency was found among the cases with a chromosome mosaicism but not among those with a translocation. Two hypotheses are put forward to explain the excess of males with trisomy 21.

对1968-1977年在瑞典出生的儿童的唐氏综合症发病率进行了研究。这些年来，不同年龄的母亲生育这种孩子的风险并没有改变。这并不排除发病率的变化可能发生在该国较小的地区，但由于统计原因而未被发现。在一些社区，唐氏综合症患儿的出生数量比预期的要多，这很可能是偶然事件。唐氏综合症的发病率与许多社会经济变量之间没有相关性。详细研究了与产妇年龄的关系。唐氏综合症新生儿和21三体胎儿在产前诊断后流产的男性比例都明显高于男性。在染色体嵌合体的病例中发现了类似的趋势，但在易位的病例中没有发现。人们提出了两种假说来解释21三体男性过多的原因。

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

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