Article
A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?
American journal of human genetics - 1 Dec 1999
Buiting K, Dittrich B, Dworniczak B, Lerer I, Abeliovich D, Cottrell S, Temple I K, Harvey J F, Lich C, Gross S, Horsthemke B
Abstract excerpt
Methylation analysis with probe PW71 (D15S63) is an established procedure to test patients suspected of having Prader-Willi syndrome or Angelman syndrome. Using this test, we have identified a 28-kb deletion spanning D15S63 in five independent families. Sequence analysis revealed identical breakpoints in all the families. The haplotype data are compatible with a common ancestral origin of the deletion in at least...
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