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A molecular and cytogenetic study in Finnish Prader-Willi patients.

Abstract：

:The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11-q13. We studied 41 patients with suspected PWS and their parents using cytogenetic and molecular techniques. Of the 27 clinically typical PWS patients, 23 (85%) had a molecular deletion that could be classified into four size categories. Only 15 of them (71%) could be detected cytogenetically. Maternal uniparental heterodisomy was observed in four cases. The rest of the patients showed no molecular defects including rare imprinting mutations. In our experience, the use of the methylation test with the probe PW71 (D15S63), together with the probe hN4HS (SNRPN), which distinguishes between a deletion and uniparental disomy, is the method of choice for the diagnosis of PWS.

journal_name

Hum Genet

journal_title

Human genetics

authors

Kokkonen H,Kähkönen M,Leisti J

doi

10.1007/BF00223871

subject

Has Abstract

pub_date

1995-05-01 00:00:00

pages

568-71

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

95

pub_type

杂志文章

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