Abstract

A detailed segmental map of the 15q11-q14 region of the human genome reveals two pairs of large direct repeats in regions associated with Prader-Willi and Angelman syndromes and other repeats that may increase susceptibility to other disorders.

Highlights

  • Chromosome 15 contains many segmental duplications, including some at 15q11q13 that appear to be responsible for the deletions that cause Prader-Willi and Angelman syndromes and for other genomic disorders

  • The proximal end of chromosome 15 contains many segmental duplications and is especially susceptible to genomic rearrangements and genomic disorders

  • R114.2 Genome Biology 2007, Volume 8, Issue 6, Article R114 Makoff and Flomen http://genomebiology.com/2007/8/6/R114 and Angelman syndrome (AS) syndromes, of which about 75% are caused by interstitial deletions in 15q11-13

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Summary

Introduction

Chromosome 15 contains many segmental duplications, including some at 15q11q13 that appear to be responsible for the deletions that cause Prader-Willi and Angelman syndromes and for other genomic disorders. Deletions on the paternal chromosome result in PWS, whereas deletions on the maternal chromosome cause AS [1] These deletions occur with an approximate frequency of 1 per 10,000 live births, and they generally fall into two size classes with breakpoints (BPs) within three discrete regions (BP1 to BP3) [2]. Both classes share the same distal breakpoint (BP3), at one end of deletions that extend through the PWS/AS critical region either to BP2 (class II) or to the more proximal BP1 (class I)

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