临床细胞遗传学：第1部分。

Clinical cytogenetics: part 1.

作者信息

Elejalde B R, Opitz J M

出版信息

Postgrad Med. 1978 Feb;63(2):179-83. doi: 10.1080/00325481.1978.11714764.

DOI:10.1080/00325481.1978.11714764

Abstract

This paper is an introduction to the cytogenetic biology of man. It deals with the role of chromosome abnormalities in prenatal death, malformation syndromes, mental retardation, malformation/mental retardation syndromes, abnormalities of sex determination, sex differentiation and sexual function, cancer, and certain genetic disorders in which chromosome abnormalities are seen commonly. Down syndrome is discussed as an important and common example of a malformation/mental retardation syndrome.

摘要

本文是对人类细胞遗传学的介绍。它探讨了染色体异常在产前死亡、畸形综合征、智力迟钝、畸形/智力迟钝综合征、性别决定异常、性分化和性功能、癌症以及某些常见染色体异常的遗传疾病中的作用。唐氏综合征作为畸形/智力迟钝综合征的一个重要且常见的例子进行了讨论。