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Example sentences for: willi
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PWS, Prader-Willi syndrome
Probes were selected that flank known sites of genomic rearrangement based upon previous yeast artificial chromosome (YAC) and BAC/PAC mapping studies, together with the human sequence map available from the University of California at Santa Cruz (UCSC) Genome Browser [ 11 12 13 14 15 ] . Probes flanking the Prader-Willi/Angelman syndrome breakpoints, in addition to a characterized inv dup(15) rearrangement were selected to test the possibility that the pericentric inversion evolutionary breakpoint corresponded to a site of known human genomic instability (Figure 1).
Particular attention was paid to the position of each probe with respect to the three large low-copy repeat clusters found within 15q11-q13; as these clusters contain both inter- and intrachromosomal segmental duplications, and correspond to the common deletion breakpoints of Prader-Willi and Angelman syndrome deletions [ 12 13 21 32 ] . The duplication track of the UCSC Genome Browser, August 2001 assembly, displays information obtained from a global analysis of segmental duplications in the human genome, and allows for the selection of informative unique clones [ 14 16 ] . In this manner, we selected probes flanking the human 15q11-q13 rearrangement breakpoints associated with common PWS/AS deletions.
Interstitial deletion of 15q11-q13 results in Prader-Willi syndrome (PWS; MIM # 176270) or Angelman syndrome (AS; MIM # 105830), when deletions occur on the paternally-derived or maternally-derived homolog, respectively (see Figure 1; reviewed in refs.
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