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Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader‐Willi syndrome
Author(s) -
Veenema H.,
Beverstock G. C.,
ZvelebilTarasevitch N.,
Doorn J. L.,
Parys J. A. P. van,
Kamp J. J. P. V.D.
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.tb00791.x
Subject(s) - gene duplication , phenotype , girl , long arm , genetics , biology , chromosome , medicine , gene
The present report concerns a mentally retarded 14‐year‐old girl with epilepsy. Her karyotype showed a duplication in the proximal portion of the long arm of chromosome 15. Deficiency as well as excess of chromosome 15 material is sometimes associated with Prader‐Willi Syndrome. On clinical investigation no symptoms of this syndrome were found in our patient. The abnormal chromosome appeared to have a duplication for the bands q 14 and q 15.