Chromosomal mosaicism in Down's syndrome: a diagnostic challenge / Roger L. LADDA in Developmental Medicine & Child Neurology, 19-5 (October 1977)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 19-5 (October 1977) . - p.668-672 Titre : Chromosomal mosaicism in Down's syndrome: a diagnostic challenge Type de document : Texte imprimé et/ou numérique Auteurs : Roger L. LADDA, Auteur ; M. Jeffrey MAISELS, Auteur ; John H. DOSSETT, Auteur ; Yvonne DOBELLE, Auteur Année de publication : 1977 Article en page(s) : p.668-672 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In individuals with mosaicism for trisomy 21, phenotype-karyotype correlations are unpredictable. Two patients are described--one with typical features of Down's syndrome and the other with severe mental retardation only. Both had normal karyotypes in their peripheral lymphocytes but high percentages of trisomic cells in skin fibroblasts. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=468 [article] Chromosomal mosaicism in Down's syndrome: a diagnostic challenge [Texte imprimé et/ou numérique] / Roger L. LADDA, Auteur ; M. Jeffrey MAISELS, Auteur ; John H. DOSSETT, Auteur ; Yvonne DOBELLE, Auteur . - 1977 . - p.668-672. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 19-5 (October 1977) . - p.668-672 Index. décimale : PER Périodiques Résumé : In individuals with mosaicism for trisomy 21, phenotype-karyotype correlations are unpredictable. Two patients are described--one with typical features of Down's syndrome and the other with severe mental retardation only. Both had normal karyotypes in their peripheral lymphocytes but high percentages of trisomic cells in skin fibroblasts. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=468

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