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

Chromosome studies of children with specific speech and language delay / David E. MUTTON in Developmental Medicine & Child Neurology, 22-5 (October 1980)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 22-5 (October 1980) . - p.588-594 Titre : Chromosome studies of children with specific speech and language delay Type de document : Texte imprimé et/ou numérique Auteurs : David E. MUTTON, Auteur Année de publication : 1980 Article en page(s) : p.588-594 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Among 88 children with speech and language problems from whom chromosome results were obtained, four were identified with a chromosome anomaly. Three had sex chromosome aneuploidy and had developmental problems, particularly with articulation. The fourth child had low-grade trisomy 21 in blood, with minimal signs of Down's syndrome but with bilateral conductive hearing loss. It is suggested that delay in speech development is one facet of the developmental problems that may be significant in later behavioural problems in adolescent and adult males with X and Y aneuploidy. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513 [article] Chromosome studies of children with specific speech and language delay [Texte imprimé et/ou numérique] / David E. MUTTON, Auteur . - 1980 . - p.588-594. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 22-5 (October 1980) . - p.588-594 Index. décimale : PER Périodiques Résumé : Among 88 children with speech and language problems from whom chromosome results were obtained, four were identified with a chromosome anomaly. Three had sex chromosome aneuploidy and had developmental problems, particularly with articulation. The fourth child had low-grade trisomy 21 in blood, with minimal signs of Down's syndrome but with bilateral conductive hearing loss. It is suggested that delay in speech development is one facet of the developmental problems that may be significant in later behavioural problems in adolescent and adult males with X and Y aneuploidy. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=513

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