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遗传学与发育迟缓。

Genetics and developmental delay.

作者信息

Macmillan C

机构信息

Department of Neurology, University of Illinois at Chicago, 60612-7330, USA.

出版信息

Semin Pediatr Neurol. 1998 Mar;5(1):39-44. doi: 10.1016/s1071-9091(98)80017-x.

Abstract

The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated health problems, in genetic counseling, and in prenatal diagnosis. This article reviews several of the most significant recently described cytogenetic and molecular genetic principles and techniques in relation to the child who presents with developmental delay.

摘要

近年来,新的细胞遗传学和分子遗传学技术及原理的发现呈爆发式增长。对于许多以前仅通过临床定义的综合征,基于分子证据进行准确诊断已成为可能,这在预测儿童发育进程、对潜在相关健康问题进行专业监测、遗传咨询以及产前诊断方面都有极大帮助。本文综述了与发育迟缓儿童相关的一些最近描述的最重要的细胞遗传学和分子遗传学原理及技术。

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