Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes

互联网2014-02-14

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The chromosomal region 15qll→ql3 exhibits one of the best characterized examples of genomic imprinting in humans in that biparental inheritance of this region is essential for normal development. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurogenetic disorders caused by the loss of function of the paternal (PWS) or maternal (AS) contribution of closely apposed genes within 15q11→q13.

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