Chromosome 15 in Prader-Willi syndrome / C. N. FEAR in Developmental Medicine & Child Neurology, 27-3 (June 1985)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 27-3 (June 1985) . - p.305-311 Titre : Chromosome 15 in Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : C. N. FEAR, Auteur ; Victor DUBOWITZ, Auteur ; David E. MUTTON, Auteur ; John Z. HECKMATT, Auteur ; A. C. BERRY, Auteur Année de publication : 1985 Article en page(s) : p.305-311 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591 [article] Chromosome 15 in Prader-Willi syndrome [Texte imprimé et/ou numérique] / C. N. FEAR, Auteur ; Victor DUBOWITZ, Auteur ; David E. MUTTON, Auteur ; John Z. HECKMATT, Auteur ; A. C. BERRY, Auteur . - 1985 . - p.305-311. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 27-3 (June 1985) . - p.305-311 Index. décimale : PER Périodiques Résumé : Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=591

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