chromosome abnormality

出典: meddic

abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationcytogenetic aberrationcytogenetic abnormality

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/04/11 14:38:37」(JST)

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英文文献

  • Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
  • Banka S1, Cain SA2, Carim S3, Daly SB3, Urquhart JE3, Erdem G4, Harris J5, Bottomley M5, Donnai D1, Kerr B1, Kingston H5, Superti-Furga A6, Unger S7, Ennis H8, Worthington J9, Herrick AL10, Merry CL11, Yue WW12, Kielty CM2, Newman WG1.
  • Annals of the rheumatic diseases.Ann Rheum Dis.2015 Jun;74(6):1249-56. doi: 10.1136/annrheumdis-2013-204309. Epub 2014 Jan 17.
  • OBJECTIVES: Leri's pleonosteosis (LP) is an autosomal dominant rheumatic condition characterised by flexion contractures of the interphalangeal joints, limited motion of multiple joints, and short broad metacarpals, metatarsals and phalanges. Scleroderma-like skin thickening can be seen in some indi
  • PMID 24442880
  • Canine urothelial carcinoma: genomically aberrant and comparatively relevant.
  • Shapiro SG1, Raghunath S, Williams C, Motsinger-Reif AA, Cullen JM, Liu T, Albertson D, Ruvolo M, Bergstrom Lucas A, Jin J, Knapp DW, Schiffman JD, Breen M.
  • Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology.Chromosome Res.2015 Jun;23(2):311-31. doi: 10.1007/s10577-015-9471-y. Epub 2015 Mar 18.
  • Urothelial carcinoma (UC), also referred to as transitional cell carcinoma (TCC), is the most common bladder malignancy in both human and canine populations. In human UC, numerous studies have demonstrated the prevalence of chromosomal imbalances. Although the histopathology of the disease is simila
  • PMID 25783786
  • Comparative cytogenetic characterization of primary canine melanocytic lesions using array CGH and fluorescence in situ hybridization.
  • Poorman K1, Borst L, Moroff S, Roy S, Labelle P, Motsinger-Reif A, Breen M.
  • Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology.Chromosome Res.2015 Jun;23(2):171-86. doi: 10.1007/s10577-014-9444-6. Epub 2014 Dec 16.
  • Melanocytic lesions originating from the oral mucosa or cutaneous epithelium are common in the general dog population, with up to 100,000 diagnoses each year in the USA. Oral melanoma is the most frequent canine neoplasm of the oral cavity, exhibiting a highly aggressive course. Cutaneous melanocyto
  • PMID 25511566

和文文献

  • 乳癌におけるFISH 法を用いたHER2遺伝子増幅の検出
  • 多重癌の治療歴があり,MLL遺伝子増幅を認めた急性骨髄性白血病・骨髄異形成症候群の2症例
  • Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan

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★リンクテーブル★
リンク元染色体異常」「chromosome aberration」「chromosomal aberration」「chromosomal abnormality」「cytogenetic abnormality
拡張検索sex chromosome abnormality
関連記事abnormality」「chromosome

染色体異常」

  [★]

aberration
chromosome aberration, chromosomal aberration, chromosome abnormality, chromosome anomaly
白血病染色体検査


概念

  • 染色体の数および構造の変化

種類

  • 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

流産との関係

  • 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%。



chromosome aberration」

  [★]

abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome abnormalitycytogenetic aberrationcytogenetic abnormality


chromosomal aberration」

  [★]

abnormal karyotypechromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberrationcytogenetic abnormality


chromosomal abnormality」

  [★]

abnormal karyotypechromosomal aberrationchromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberrationcytogenetic abnormality


cytogenetic abnormality」

  [★]

abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberration


sex chromosome abnormality」

  [★]

sex chromosome aberrationsex chromosome disorder


abnormality」

  [★]

  • n,
aberrantaberrantlyaberrationabnormalabnormallyanomalousanomalouslyanomalydefectdeformitydeviantdeviationextraordinarilyextraordinarymalformationmalformedteratologicunusualunusually

WordNet   license wordnet

「marked strangeness as a consequence of being abnormal」
freakishness

WordNet   license wordnet

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

WordNet   license wordnet

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

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)」


chromosome」

  [★] 染色体

WordNet   license wordnet

「a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"」

PrepTutorEJDIC   license prepejdic

「染色体」




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