作者: Warren G. Sanger , Janet Howe , Renee Fordyce , David T. Purtilo
DOI: 10.1016/0165-4608(84)90109-2
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摘要: Abstract The proband in this study had multiple congenital malformations and a constitutional 46,XY,−13,+der(13),t(13;15)(q34;q23)mat chromosome complement. A bone marrow aspirate revealed neuroblastoma, cytogenetic studies on tumor cells revealed, addition to the partial trisomy #15 probable monosomy #13, hypotetraploidy with mean number of 82–84, including 3 or 4 copies each autosome, 2 X chromosomes, no Y chromosome, marker. Translocations involving chromosomes #1, #2, #3, #7, #14 were present, along double minutes. possibility that inherited (and/or #13 monosomy) predisposed neuroblastoma additional changes is discussed.