Prader-Willi Syndrome in a Girl with 47,XX, + mar Karyotype

H. Tomaszewska; H. Lech; B. Parcheta; E. Piontek; L. Wisniewski

doi:10.1055/s-2008-1033832

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Klin Padiatr 1982; 194(5): 328-331
DOI: 10.1055/s-2008-1033832

Prader-Willi Syndrome in a Girl with 47,XX, + mar Karyotype

Prader-Willi-Syndrom bei einem fünfjährigen Mädchen mit Karyotype 47, XX, +marH. Tomaszewska , H. Lech , B. Parcheta , E. Piontek , L. Wisniewski

Dept. of Genetics, The Monument-Hospital Child Health Centre, Warsaw, Poland

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Publication Date:
13 March 2008 (online)

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Abstract

A case of Prader-Willi syndrome diagnosed in a five year old girl, with accompanying aberations in her karyotype is presented. The girl shows the following clinical symptoms, typical for the syndrome: obesity, mental retardation, muscular hypotonia and dysmorphic features of the face. Cytogenetic examinations revealed an abnormal karotype of 47,XX, + mar.

Zusammenfassung

Ein Fall des Prader-Willi-Syndroms bei einem fünf Jahre alten Mädchen mit unrichtigem Karyotypus - 47,XX, +mar wird dargestellt. Das Mädchen hat manche klinischen Symptome, die für Willi-Prader-Syndrom typisch sind: Dickleibigkeit, geistige Zurückgebliebenheit, Muskelhypotonie, dysmorphisches Gesicht.