The phenotypic mapping of down syndrome and other aneuploid conditions : proceedings of a National Down Syndome Society conference held in New York, January 14 and 15, 1993
著者
書誌事項
The phenotypic mapping of down syndrome and other aneuploid conditions : proceedings of a National Down Syndome Society conference held in New York, January 14 and 15, 1993
（Progress in clinical and biological research, v. 384）
Wiley-Liss, c1993
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注記
Includes bibliographical references and index
内容説明・目次
内容説明
As a detailed discussion of approaches to understanding the genetics and the underlying mechanisms of the different phenotypic characteristics of Down syndrome, this title also includes animal models of human chromosone 21 relevant to the phenotypic mapping of Down syndrome. Since the precedents for phenotypic mapping go far beyond human chromosome 21, the book also covers several other aneuploid states in addition to Down syndrome itself, thereby presenting the latest information about state-of-the-art approaches to phenotypic mapping.
目次
- The Conceptual Bases for the Phenotypic Mapping of Conditions Resulting From Aneuploidy
- Physical Mapping of Chromosome 21
- Molecular Mapping of the Down Syndrome Phenotype on Chromosome 21
- Segmental Trisomy as a Mouse Model for Down Syndrome
- Karyotype/Phenotype Correlation: Prospects and Problems Illustrated by Chromosome 18
- Gene Dosage as a Mechanism for a Common Autosomal Dominant Peripheral Neuropathy: Charcot-Marie-Tooth Disease Type 1A
- Mapping of the Angelman and Prader-Willi Syndromes.
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