A case with 47, xxy, del(15)(q11;q13) karyotype associated with prader-willi phenotype

A. Rego, M. D. Coll, M. Regal, M. Guitart, T. Escudero, R. V. García-Mayor

    Research output: Contribution to journalArticleResearchpeer-review

    11 Citations (Scopus)

    Abstract

    Herein we present the case of a 12-year-old boy who attended our clinic for obesity and hyperphagia. As a newborn he was noted to have diffuse muscular hypotonia and poor sucking response. At the age of 11 years, he was admitted to hospital for respiratory insufficiency. He had personality disorders characterized by temper tantrums and violent outbursts including self-mutilation. Physical evaluation revealed marked central obesity, he had small hands and feet, and also genital hypoplasia. Of the biochemical parameters, hyperglycemia and a low serum testosterone level must be emphasized. The patient fulfills the clinical criteria of typical Prader-Willi syndrome. Cytogenetic and fluorescence in situ hybridization analysis showed a karyotype 47, XXY, del(15)(qll;ql3). To our knowledge this is the first report of the aforementioned genotype expressed as Prader-Willi phenotype in childhood. © 1997 S. Karger AG, Basel.
    Original languageEnglish
    Pages (from-to)44-46
    JournalHormone Research in Paediatrics
    Volume48
    Issue number1
    DOIs
    Publication statusPublished - 1 Jan 1997

    Keywords

    • Fluorescence hybridization analysis
    • Karyotype
    • Klinefelter syndrome
    • Prader-Willi syndrome

    Fingerprint Dive into the research topics of 'A case with 47, xxy, del(15)(q11;q13) karyotype associated with prader-willi phenotype'. Together they form a unique fingerprint.

    Cite this