chromosomal abnormality

出典: meddic

abnormal karyotypechromosomal aberrationchromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberrationcytogenetic abnormality

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/01/31 15:34:36」(JST)

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  • TERT promoter mutations and chromosome 8p loss are characteristic of nonalcoholic fatty liver disease-related hepatocellular carcinoma.
  • Ki Kim S1,2, Ueda Y1, Hatano E3, Kakiuchi N1,2, Takeda H1, Goto T1, Shimizu T1, Yoshida K2, Ikura Y4, Shiraishi Y5, Chiba K5, Tanaka H5, Miyano S5, Uemoto S3, Chiba T1, Ogawa S2, Marusawa H6.
  • International journal of cancer.Int J Cancer.2016 Dec 1;139(11):2512-8. doi: 10.1002/ijc.30379. Epub 2016 Aug 29.
  • The number of patients with nonalcoholic fatty liver disease (NAFLD)-related hepatocellular carcinoma (HCC) is increasing. To understand the molecular features of the tumor phenotype, we aimed to clarify the overall landscape of genetic aberrations accumulated in NAFLD-related HCC. Of 247 HCC patien
  • PMID 27511114
  • Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.
  • Jackson RA1, Nguyen ML1, Barrett AN2, Tan YY1, Choolani MA3,4, Chen ES5,6,7.
  • Cellular and molecular life sciences : CMLS.Cell Mol Life Sci.2016 Nov;73(21):4001-17. doi: 10.1007/s00018-016-2276-0. Epub 2016 May 31.
  • Single nucleotide polymorphisms (SNPs) are important biomolecular markers in health and disease. Down syndrome, or Trisomy 21, is the most frequently occurring chromosomal abnormality in live-born children. Here, we highlight associations between SNPs in several important enzymes involved in the one
  • PMID 27245382
  • Single cell genomics reveals activation signatures of endogenous SCAR's networks in aneuploid human embryos and clinically intractable malignant tumors.
  • Glinsky GV1.
  • Cancer letters.Cancer Lett.2016 Oct 10;381(1):176-93. doi: 10.1016/j.canlet.2016.08.001. Epub 2016 Aug 3.
  • Somatic mutations and chromosome instability are hallmarks of genomic aberrations in cancer cells. Aneuploidies represent common manifestations of chromosome instability, which is frequently observed in human embryos and malignant solid tumors. Activation of human endogenous retroviruses (HERV)-deri
  • PMID 27497790


  • 多発性骨髄腫の分類と遺伝子異常 (特集 多発性骨髄腫の病態と最新治療 : 基礎と臨床の最新情報)
  • 花村 一朗,飯田 真介
  • 日本臨床 73(1), 17-27, 2015-01
  • NAID 40020305553
  • 1 番染色体長腕のtandem triplication [trp(1)(q21q32)]を認めた骨髄異形成症候群の2例
  • 中川 美穂,奥村 敦子,津田 勝代,笹井 恒雄,大野 仁嗣
  • 天理医学紀要 18(1), 17-24, 2015
  •  1番染色体長腕(1q)のtandem triplication [trp(1)(q21q32)]を認めた骨髄異形成症候群(MDS)の2例を報告する.症例1: 60代男性.肺癌の術前検査で血小板減少と単球増多が認められた.骨髄は低形成で,芽球0.4%,単球24.3%,顆粒球系と赤芽球系に軽度の異形成を認めた.染色体分析では,分析した全ての分裂中期核にtrp(1)(q21q32)を認め,3番染色体短 …
  • NAID 130005085467
  • 診断時にRobertson型転座の先天性染色体異常が判明したフィラデルフィア染色体陽性急性リンパ性白血病
  • 山口 津加彩,五十嵐 愛子,川村 眞智子 [他],小笹 由香,吉田 雅幸,垣花 和彦,坂巻 壽,大橋 一輝
  • 臨床血液 56(5), 481-484, 2015
  • 急性リンパ性白血病(ALL)の40代の男性患者で,精子数の減少と運動率の低下を指摘され,3年ほど前から不妊治療を施行していた。ALL発症時の骨髄染色体検査にて45, XY, t(9;22)(q34;q11.2), der(13;14)(q10;q10)がみられ,フィラデルフィア染色体に加え,13番と14番染色体が融合するRobertson (RT)型転座の存在が判明した。完全寛解到達後の骨髄染色体 …
  • NAID 130005076021


In the past decade, newer techniques have been developed that allow scientists and doctors to screen for chromosomal abnormalities without using a microscope. These newer methods compare the patient's DNA to a normal DNA ...
The geneticist Jerome Lejeune identified cri-du-chat syndrome in 1963. He also discovered the genetic abnormality that causes Down syndrome. Cri-du-chat is one of the most common syndromes caused by a ...


congenital chromosomal abnormalityChromosomal abnormality and congenital mWhile there are many types of chromosomal Chromosomal Abnormality |authorSTREAM chromosomal abnormality - Gate2Biotech.comChromosomal Abnormality Syndromes and

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

chromosome aberration」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome abnormalitycytogenetic aberrationcytogenetic abnormality

chromosome abnormality」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationcytogenetic aberrationcytogenetic abnormality

cytogenetic abnormality」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberration

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)」



  • 染色体の、染色体性の

WordNet   license wordnet

「of or relating to a chromosome; "chromosomal defect"」