[Newly discovered structural chromosome aberrations in long familial syndromes, associations and sequences. Prader-Willi syndrome, Miller-Dieker syndrome, Giedion-Langer syndrome, Aniridia-Wilms' tumor association, DiGeorge sequence, Wiedemann-Beckwith syndrome].
Schinzel
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D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004062:DiGeorge Syndrome / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities; D007680:Kidney Neoplasms / Q000235:genetics; D008260:Macroglossia / Q000235:genetics; D008831:Microcephaly / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics
Neuentdeckte strukturelle Chromosomenabberationen bei altbekannten Syndromen, Assoziationen und Sequenzen. Prader-Willi-Syndrome, Miller-Dieker-Syndrome, Giedion-Langer-Syndrom, Aniridie-Wilms-Tumor- Assoziation, DiGeorge-Sequenz, Wiedemann-Beckwith-Syndrom.