Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
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加德纳和萨瑟兰的染色体异常与遗传咨询

DOI:
10.1093/med/9780199329007.001.0001
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发表时间:
2018
期刊:
影响因子:
--
通讯作者:
D. Amor
D. Amor
中科院分区:
--
文献类型:
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作者:
R. Gardner;D. Amor

文献摘要

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染色体异常已经被发现超过50年了,尽管分析方法已经变得越来越复杂和精确。令人惊讶的是,父母和家庭在遗传咨询中提出的问题在这段时间里几乎没有变化。比如,”为什么会发生异常?为什么它会导致我们在孩子身上看到的问题?这种情况会在未来的孩子身上再次发生吗?我们如何才能避免这种情况再次发生?“是家庭共同关心的问题。这一新版本的染色体畸变和遗传咨询处理这些普遍的问题,并在分子细胞遗传学分析的最新发展的背景下,但始终保留对这些条件发生的家庭的需求的主要重点。彻底更新一次,这丰富的说明文字结合了染色体分析的基本概念与分子细胞遗传学的最新进展的实际应用。这本书将给辅导员的信息,将使他们能够帮助有关的父母适应和适应他们的特定染色体的挑战,并确定什么可能是,对他们来说,最好的行动方针。
Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like," Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.