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Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

Abstract：

:Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.

journal_name

Hum Genet

journal_title

Human genetics

authors

Fraccaro M,Zuffardi O,Bühler E,Schinzel A,Simoni G,Witkowski R,Bonifaci E,Caufin D,Cignacco G,Delendi N

doi

10.1007/BF00292373

subject

Has Abstract,Author List Incomplete

pub_date

1983-01-01 00:00:00

pages

388-94

issue

4

eissn

0340-6717

issn

1432-1203

journal_volume

64

pub_type

杂志文章

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