Explain the term contiguous gene deletion syndrome Use ：解释术语邻近基因缺失综合征使用.pptVIP

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Explain the term contiguous gene deletion syndrome Use ：解释术语邻近基因缺失综合征使用.ppt

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Explain the term contiguous gene deletion syndrome Use ：解释术语邻近基因缺失综合征使用

Explain the term contiguous gene deletion syndrome.Use examples to explain the phenotypic effects of such deletions (excluding imprinted genes).Outline the methods available for identifying contiguous gene deletions. Essay Plan Definition of a Contiguous Gene Deletion Features of the Deletions Examples of X linked Contiguous Gene Deletions Detailed Examples and the phenotypic effects Identification of Contiguous Gene Deletions The limitations of such techniques Definition A contiguous gene deletion syndrome is caused by a microdeletion that spans two or more genes tandemly positioned along a chromosome. Contiguous gene deletion syndromes result from deletions of small amounts of chromosomal material containing a few genes that are functionally unrelated but are linked by location on the chromosome. As a result the phenotype observed is the result of a loss of the contiguous genes involved. Features of the Syndromes The microdeletion involved is often too small to be visualized using conventional cytogenetic techniques so detection often requires fluorescent in situ hybridization (FISH) or another high resolution technique. In some cases, specific features of the syndrome can vary in different patients with the same syndrome as the phenotype can depend on the breakpoints of the deletion and which genes are deleted. Features of the Syndromes Some of the syndromes are due to a common deletion size in the majority of cases e.g. William syndrome has a 1.6Mb deletion in most patients Some are due to deletion of variable sizes which can affect the phenotype e.g. Wolf Hirshhorn Syndrome A lot of the best characterised deletion syndromes have developmental delay as a major feature. Examples of Contiguous Gene Deletion Syndromes Examples of syndromes that can be due to deletions of contiguous genes include William Syndrome WAGR Miller Dieker Di George/VCFS Langer-Gideon, Prader Willi Syndrome/Angelman Syndrome Wolf Hirschorn 1p deletion syndrome. X linked Contiguou