cytogenetic abnormality

出典: meddic

abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberration

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/11 09:09:46」(JST)

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  • Towards a turning point of neuroblastoma therapy.
  • Tonini GP, Nakagawara A, Berthold F.SourceItalian Neuroblastoma Foundation, IRCCS A.O.U. San Martino-IST, National Cancer Research Institute, Genoa, Italy. Electronic address:
  • Cancer letters.Cancer Lett.2012 Dec 30;326(2):128-34. doi: 10.1016/j.canlet.2012.08.017. Epub 2012 Aug 23.
  • In 1983, the MYCN oncogene amplification was discovered in neuroblastoma cells and few years later its prognostic role was clearly demonstrated. The first European study, in which MYCN gene status is taken as prognostic factor for therapeutic decision, was released by SIOPEN and GPOH in 1995. Afterw
  • PMID 22922304
  • Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.
  • Tassano E, Alpigiani MG, Salvati P, Gimelli S, Lorini R, Gimelli G.SourceLaboratorio di Citogenetica, Istituto Giannina Gaslini IRCCS, Genova, Italy.
  • Gene.Gene.2012 Dec 15;511(2):338-40. doi: 10.1016/j.gene.2012.09.083. Epub 2012 Sep 29.
  • Inverted duplications associated with terminal deletions are complex anomalies described in an increasing of chromosome ends. We report on the cytogenetic characterization of the first de novo inv dup del(4) with partial 4p duplication and 4q deletion in a girl with clinical signs consistent with "r
  • PMID 23031810


  • Der(2)t(2;11)(p21;q23), a Variant form of t(2;11), in Biphenotypic Acute Leukemia with T Lymphoid Lineage and M yeloid Lineage Differentiation
  • Miyazawa Yuri,Irisawa Hiroyuki,Matsushima Takafumi [他],Mitsui Takeki,Uchiumi Hideki,Saitoh Takayuki,Handa Hiroshi,Karasawa Masamitsu,Murakami Hirokazu,Tsukamoto Norifumi,Nojima Yoshihisa
  • 北関東医学 62(3), 287-290, 2012-08-00
  • Cytogenetic analysis revealed complex chromosomalabnormalities, including der(2)t(2;11)(p21;q23). … However, der(2)t(2;11)(p21;q23) anomaly persisted in most of metaphases.Fluorescence in situ hybridization (FISH)analysis with a probe for MLL did not detect the split signal.Forty-five cases of hematological disorder with t(2;11)(p21;q23) abnormality have been previouslyreported. …
  • NAID 40019415976
  • 染色体線量評価の現状と今後の展望
  • 吉田 光明
  • 放射線生物研究 47(2), 165-178, 2012-06-00
  • NAID 40019392842
  • A Case of Ambiguous External Genitalia in a Thoroughbred Male Horse with the 63,XO/64,XY Mosaic Karyotype
  • SATO Fumio,HIROTA Keiichi,TOZAKI Teruaki [他],ITO Katsumi,DHAKAL Pramod,TAYA Kazuyoshi,ENDO Yoshiro,MURASE Harutaka,NAMBO Yasuo
  • Journal of Veterinary Medical Science 74(10), 1327-1331, 2012
  • … A cytogenetic analysis revealed the 63,XO/64,XY mosaic karyotype (ratio 83:17). … These results add to our knowledge of chromosomal abnormality and information concerning disorders of sex development in the horse. …
  • NAID 130001879818


染色体異常 abnormal chromosome abnormality in chromosome chromosomal aberra... - アルクがお届けする進化するオンライン英和・和英辞書データベース。一般的な単語や連語から、イディオム、専門用語、スラングまで幅広く収録。
The duplication of human chromosome 15q11-13 is known to be the most frequent cytogenetic abnormality in autism. … This first chromosome-engineered mouse model for autism replicates various aspects of human autistic. … ...



リンク元chromosomal aberration」「chromosomal abnormality」「chromosome aberration」「chromosome abnormality」「chromosomal disorder



chromosome aberration, chromosomal aberration, chromosome abnormality, chromosome anomaly


  • 染色体の数および構造の変化


  • 数的異常
  • 倍数性異常
  • 異数性異常
  • 45,XO:Turner症候群 (45X/46XX (モザイク)、46XXq、46XXpもありうる)
  • 45,YO:致死的らしい
  • 47,XXY:Klinefelter症候群 (2個以上のXと1個以上のY:48,XXXY, 49,XXXXY, 46,XY/47,XXYモザイク、48,XXYYなどもありうる)
  • 構造的異常
  • 欠失、逆位、転座、挿入、重複、環状染色体、同腕染色体


  • 全妊娠の10-15%は自然流産であり、自然流産の半数以上は染色体異常が原因である。(QB.P-334)
  • 自然流産児の染色体異常頻度は50-70%、新生児における染色体異常頻度は約1%。

chromosomal aberration」


abnormal karyotypechromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberrationcytogenetic abnormality

chromosomal abnormality」


abnormal karyotypechromosomal aberrationchromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberrationcytogenetic abnormality

chromosome aberration」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome abnormalitycytogenetic aberrationcytogenetic abnormality

chromosome abnormality」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationcytogenetic aberrationcytogenetic abnormality

chromosomal disorder」


chromosomal aberrationchromosomal abnormalitychromosomal anomalychromosome aberrationchromosome abnormalitychromosome disordercytogenetic abnormality



  • n,

WordNet   license wordnet

「marked strangeness as a consequence of being abnormal」

WordNet   license wordnet

「behavior that breaches the rule or etiquette or custom or morality」

WordNet   license wordnet

「an abnormal physical condition resulting from defective genes or developmental deficiencies」

WordNet   license wordnet

「retardation sufficient to fall outside the normal range of intelligence」
mental defectiveness

PrepTutorEJDIC   license prepejdic

「〈U〉異常,変則 / 〈U〉異常なもの(事件)」



  • adj.
  • 細胞遺伝学的な、細胞遺伝学の
cytogenetic finding 細胞遺伝学的所見

WordNet   license wordnet

「of or relating to cytogenetics」




WordNet   license wordnet

「the branch of biology that studies the cellular aspects of heredity (especially the chromosomes)」