17pトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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- 1. 慢性リンパ性白血病の病態生理および遺伝学的特徴pathophysiology and genetic features of chronic lymphocytic leukemia [show details]
…Evaluation of the peripheral blood with fluorescence in situ hybridization (FISH) for del(17p), del(11q), trisomy 12, and del(13q) is a routine part of the pretreatment evaluation of patients with CLL. While …
- 2. 慢性リンパ性白血病の病期分類および予後staging and prognosis of chronic lymphocytic leukemia [show details]
…the peripheral blood for del(17p), del(11q), trisomy 12, and del(13q). Of these, del(13q) and trisomy 12 are favorable prognostic findings. Historically, patients with del(17p) or del(11q) have been at high …
- 3. 自然早産のリスクを低下させるためのプロゲステロン補充progesterone supplementation to reduce the risk of spontaneous preterm birth [show details]
… PROLONG (hydroxyprogesterone caproate injection) – PROLONG, a randomized placebo-controlled multicenter international trial, assessed the safety and efficacy of hydroxyprogesterone caproate injection …
- 4. 症候性または進行した慢性リンパ性白血病に対する初期治療の選択selection of initial therapy for symptomatic or advanced chronic lymphocytic leukemia [show details]
… 17p deletion and TP53 mutation retain their prognostic impact; patients with 17p deletion and/or TP53 mutation treated… (usually from peripheral blood) with fluorescence in situ hybridization (FISH) for del17p, del11q, trisomy 12, and del13q. FISH for t(11;14) is performed, to rule out mantle cell lymphoma. TP53 mutation and …
- 5. 多発性骨髄腫：病期分類および予後研究multiple myeloma staging and prognostic studies [show details]
… with trisomy 5, but not in those with trisomy 7, 9, 11, 15, 17, 18, or 19 . In contrast, trisomy 21 was associated with inferior survival.… R-ISS I (n = 871) – ISS stage I (B2M <3.5 mg/L and serum albumin ≥3.5 g/dL) and normal LDH and no del(17p), t(4;14), or t(14;16) by FISH. Estimated OS and PFS at five years were 82 and 55 percent, respectively …
English Journal
- Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter.
- Park CH1, Kim HJ1, Lee ST1, Seo JM2, Kim SH3.
- Gene.Gene.2014 Mar 10;537(2):343-7. doi: 10.1016/j.gene.2013.12.056. Epub 2014 Jan 4.
- Trisomy of the short arm of chromosome 17 (T17P) is a genomic disorder presenting with growth retardation, motor and mental retardation and constitutional physical anomalies including congenital heart defects. Here we report a case of near-complete T17P of which the genomic dosage aberrations were d
- PMID 24393711
- Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.
- Lee CG1, Park SJ, Yim SY, Sohn YB.
- Brain & development.Brain Dev.2013 Aug;35(7):681-5. doi: 10.1016/j.braindev.2012.09.009. Epub 2012 Oct 15.
- Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormali
- PMID 23078968
- A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?
- Ho AC1, Liu AP, Lun KS, Tang WF, Chan KY, Lau EY, Tang MH, Tan TY, Chung BH.
- European journal of medical genetics.Eur J Med Genet.2012 Dec;55(12):758-62. doi: 10.1016/j.ejmg.2012.09.011. Epub 2012 Oct 9.
- While deletion of chromosome 17p13.3 (encompassing PAFAH1B1 and YWHAE genes) is known to result in Miller-Dieker syndrome (OMIM 247200), 17p13.3 microduplication gives rise to a condition commonly associated with developmental delay and autism spectrum disorder. We report a Chinese newborn presentin
- PMID 23063769
Japanese Journal
- Analysis of genomic alterations on urological malignancies by fluorescence in situ hybridization
- Matsuyama Hideyasu,Pan Yi,Oba Kazuo,Tsukamoto Manabu,Nagao Kazuhiro,Yamaguchi Shiro,Fukunaga Koji,Matsuda Kenji,Yoshihiro Satoru,Li Chunde,Kudren David,Bergerheim Ulf S. R.,Ekman Peter,Naito Katsusuke
- The bulletin of the Yamaguchi Medical School 50(1-4), 11-18, 2003-12
- … The following results had been obtained and published in the literature: Bradder cancer: Numericalalterations on chromosome 7, 9, and 17 by dual-color fruorescence in situ hybridization (FISH) demonstrated that chromosome 7 trisomy and 9 monosomy were the most frequently occurred not only in the tumor, but also in the surrounding intact bladder mucosa, and that 9 monosomy detected by using negative cytology specimen could predict early recurrence of superficial bladder cancer. …
- NAID 120000864659
- P-38 A de novo17p Trisomy with Anal Atresia Diagnosed by Fluorescent in situ Hybridization.
- INOUE C.,YOKOYAMA Y.,OHTSUKI S.,NINOMIYA S.,TERAOKA M.,KAMADA K.,SEINO Y.,URUSHIBARA N.
- Congenital anomalies 39(3), 170, 1999-09-30
- NAID 110002786028
- Trisomy 2, trisomy 20, and del (17p) as the sole chromosomal abnormalities in three cases of hepatoblastoma
Related Links
- Summary Disease definition Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay ...
- Trisomy 17p symptoms, causes, diagnosis, and treatment information for Trisomy 17p (Chromosome 17p, partial duplication) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments ...
★リンクテーブル★
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- 英
- trisomy 17p
- 関
- 17番染色体