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四个学龄儿童出生队列中脆性X综合征的患病率。

Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

作者信息

Kähkönen M, Alitalo T, Airaksinen E, Matilainen R, Launiala K, Autio S, Leisti J

出版信息

Hum Genet. 1987 Sep;77(1):85-7. doi: 10.1007/BF00284720.

DOI:10.1007/BF00284720
PMID:3623561
Abstract

The prevalence of the fragile X syndrome among 12,882 children (6594 boys and 6288 girls) born during the years 1969-1972 in Kuopio province in eastern central Finland has been studied retrospectively. Mentally retarded children were selected from normal schools by using school achievement tests and from registers of mentally retarded individuals. In the present study fragile X syndrome was found in 6/111 mentally retarded children (5.4%), in 4/61 boys and in 2/50 girls, respectively. It was not detected in the control group of 85 healthy children. The corrected prevalence of fragile X syndrome among boys in four successive birth cohorts was estimated to be 1 in 1210 or 0.8/1000, and that among girls, 1 in 2418 or 0.4/1000. The overall prevalence was calculated to be 1 in 1612 or 0.6/1000 children.

摘要

对1969年至1972年期间出生在芬兰中东部库奥皮奥省的12882名儿童(6594名男孩和6288名女孩)中脆性X综合征的患病率进行了回顾性研究。通过学业成绩测试从普通学校以及从智障者登记册中挑选出智障儿童。在本研究中,在111名智障儿童中有6名(5.4%)被发现患有脆性X综合征,其中男孩4/61,女孩2/50。在85名健康儿童的对照组中未检测到该综合征。四个连续出生队列中男孩脆性X综合征的校正患病率估计为1/1210或0.8/1000,女孩为1/2418或0.4/1000。计算得出总体患病率为1/1612或0.6/1000儿童。

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引用本文的文献

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Fragile X Syndrome in children.儿童脆性 X 综合征。
Colomb Med (Cali). 2023 May 20;54(2):e4005089. doi: 10.25100/cm.v54i2.5089. eCollection 2023 Apr-Jun.
2
The fragile X syndrome.脆性X综合征
J Med Genet. 1998 Jul;35(7):579-89. doi: 10.1136/jmg.35.7.579.
3
Fragile X syndrome is less common than previously estimated.脆性X综合征比之前估计的要少见。

本文引用的文献

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Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).X连锁智力迟钝与X染色体标记fra(X)(q27)的杂合表达。
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Marker X-associated mental retardation. A study of 150 retarded males.与标记X相关的智力迟钝。对150名智力迟钝男性的研究。
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The fragile X syndrome. A study of 83 families.
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Marker (X)-linked mental retardation.X连锁智力障碍
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