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Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion
Author(s) -
France H. F. de,
Beemer F. A.,
Ippel P. F.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb01075.x
Subject(s) - gene duplication , karyotype , genetics , confusion , chromosome , chromosome 15 , biology , psychology , gene , psychoanalysis
We describe a six‐year‐old boy with the typical features of Prader‐Willi syndrome. Cytogenetic investigation revealed a chromosome aberration that has not been described yet, i.e. a duplication in the proximal half of 15q. Based upon banding‐pattern the exact nature of the duplicated part could not be delineated. Both parents had a normal karyotype. Various hypotheses concerning the relationship between Prader‐Willi syndrome and various chromosome 15 abnormalities are discussed.