ヤコブセン11q末端欠失症候群
WordNet
- the act of deleting something written or printed
- the omission that is made when an editorial change shortens a written passage; "an editors deletions frequently upset young authors"; "both parties agreed on the excision of the proposed clause" (同)excision, cut
- (genetics) the loss or absence of one or more nucleotides from a chromosome
- situated farthest from point of attachment or origin, as of a limb or bone
- directed away from the midline or mesial plane of the body
- Dutch physician who opened the first birth control clinic in the world in Amsterdam (1854-1929) (同)Aletta Jacobs
- United States writer and critic of urban planning (born in 1916) (同)Jane Jacobs
- English writer of macabre short stories (1863-1943) (同)W. W. Jacobs, William Wymark Jacobs
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- 削除;〈C〉削除箇所
- 中心から遠い,末梢(まっしょう)[部]の,末端[部]の
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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English Journal
- A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.
- Evers C, Janssen JW, Jauch A, Bonin M, Moog U.SourceInstitute of Human Genetics, Heidelberg University, Heidelberg, Germany. christina.evers@med.uni-heidelberg.de
- American journal of medical genetics. Part A.Am J Med Genet A.2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2.
- PMID 22302716
- Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: molecular characterization of two der(11)t(11;16).
- Basinko A, Audebert-Bellanger S, Douet-Guilbert N, Le Franc J, Parent P, Quemener S, La Selve P, Bovo C, Morel F, Le Bris MJ, De Braekeleer M.SourceLaboratoire d'Histologie, Cytologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
- American journal of medical genetics. Part A.Am J Med Genet A.2011 Sep;155A(9):2281-7. doi: 10.1002/ajmg.a.34162. Epub 2011 Aug 10.
- We report here three children with a der(11)t(11;16), two sibs (patients 1 and 2) having inherited a recombinant chromosome from a maternal t(11;16)(q24.3;q23.2) and a third unrelated child with a de novo der(11)t(11;16)(q25;q22.1), leading to partial monosomy 11q and trisomy 16q. Fluorescent in sit
- PMID 21834034
Japanese Journal
- Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay
- Ji Taoyun,Wu Ye,Wang Huifang [他]
- Journal of human genetics 55(8), 486-489, 2010-08
- NAID 40017252427
Related Links
- del(11)(q23-qter) 貧血, 血小板減少, 両側性握り母指, 短く小さな鼻, 幅広い顔, 平坦な後頭部, 耳介前小孔, 小さな耳介, 前頭縫合隆起 (Schinzel 1977); see Schinzel p447, p448, p449, p450 (Michaelis RC et al. Most Jacobsen syndrome ...
- Jacobsen Distal 11q Deletion Syndrome; 11q Deletion Disorder; Jacobsen Syndrome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity ...
Related Pictures
★リンクテーブル★
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- 英
- Jacobsen distal 11q deletion syndrome
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- 関
- centrifugal、distalis、distally、distant、efferent、end、extremity、terminal、terminally
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