chromosomal disorder

出典: meddic

chromosomal aberrationchromosomal abnormalitychromosomal anomalychromosome aberrationchromosome abnormalitychromosome disordercytogenetic abnormality

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/02/15 13:52:03」(JST)

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  • Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
  • Siu WK1,2, Lam CW3, Mak CM2, Lau ET4, Tang MH4, Tang WF4, Poon-Mak RS5, Lee CC6, Hung SF6, Leung PW7, Kwong KL8, Yau EK9, Ng GS9, Fong NC9, Chan KY9.
  • Clinical and translational medicine.Clin Transl Med.2016 Dec;5(1):18. doi: 10.1186/s40169-016-0098-1. Epub 2016 May 16.
  • BACKGROUND: Chromosomal microarray offers superior sensitivity for identification of submicroscopic copy number variants (CNV) and it is advocated to be the first tier genetic testing for patients with autism spectrum disorder (ASD). In this regard, diagnostic yield of array comparative genomic hyb
  • PMID 27271878
  • HGSNAT has a TATA-less promoter with multiple starts of transcription.
  • Richtrova E1, Mrazova LS2, Musalkova D3, Luksan O4, Stolnaya L5, Minks J6, Lukas J7, Dvorakova L8, Jirsa M9, Hrebicek M10.
  • Gene.Gene.2016 Oct 30;592(1):36-42. doi: 10.1016/j.gene.2016.07.051. Epub 2016 Jul 22.
  • Acetyl-CoA:α-glucosaminide N-acetyltransferase (N-acetyltransferase) is a lysosomal membrane enzyme that catalyzes a key step in the lysosomal degradation of heparan sulfate. Its deficiency causes Sanfilippo syndrome type IIIC (Mucopolysaccharidosis type IIIC, MPS IIIC). Here we characterize the pr
  • PMID 27452122
  • Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism.
  • Serapinas D1, Bartkeviciene D2, Valantinaviciene E3, Machtejeviene E4.
  • Archivos argentinos de pediatría.Arch Argent Pediatr.2016 Oct 1;114(5):e362-5. doi: 10.5546/aap.2016.eng.e362. Epub 2016 Apr 11.
  • in

English, SpanishLa reciente introducción de las pruebas prenatales no invasivas (NIPT, por sus siglas en inglés) basadas en el ADN libre ofrece un método más preciso que los métodos tradicionales de detección en el suero materno para identificar aneuploidías fetales. La eficacia de las


  • Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities
  • A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
  • Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome
  • Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology 28(1), 51-54, 2016-01
  • NAID 120005890207


Chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems, and caused by abnormal chromosome number or constitution. Normally, humans have 46 chromosomes arranged in ...
2. Nondisjunction of the sex chromosomes (X or Y chromosome): Can be fatal, but many people have these karyotypes and are just fine! A. Klinefelter syndrome: 47, XXY males. Male sex organs; unusually small testes, sterile.



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



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%。

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

chromosome abnormality」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationcytogenetic aberrationcytogenetic abnormality

cytogenetic abnormality」


abnormal karyotypechromosomal aberrationchromosomal abnormalitychromosomal anomalychromosomal disorderchromosome aberrationchromosome abnormalitycytogenetic aberration



  • 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
  • n.
  • an untidy state; a lack of order or organization (⇔order)
  • violent behaviour of large groups of people
  • an illness that cause a part of the body to stop functioning correctly
  • 注意
disease <> illness <> disorder
  • vt.
  • 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
  • vi.

WordNet   license wordnet

「bring disorder to」

WordNet   license wordnet

「a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"」

WordNet   license wordnet

「a disturbance of the peace or of public order」

PrepTutorEJDIC   license prepejdic

「〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる」



  • 染色体の、染色体性の

WordNet   license wordnet

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



WordNet   license wordnet

「not arranged in order」