3pモノソミー
WordNet
- chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
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English Journal
- 3p interstitial deletion including PRICKLE2 in identical twins with autistic features.
- Okumura A1, Yamamoto T2, Miyajima M3, Shimojima K2, Kondo S3, Abe S4, Ikeno M4, Shimizu T4.
- Pediatric neurology.Pediatr Neurol.2014 Nov;51(5):730-3. doi: 10.1016/j.pediatrneurol.2014.07.025. Epub 2014 Jul 29.
- BACKGROUND: Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays.PATIENTS: We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features assoc
- PMID 25193415
- Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
- Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF1.
- BMC medical genomics.BMC Med Genomics.2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55.
- BACKGROUND: Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microce
- PMID 25223409
- Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.
- Gross AM1, Orosco RK2, Shen JP3, Egloff AM4, Carter H3, Hofree M5, Choueiri M3, Coffey CS2, Lippman SM6, Hayes DN7, Cohen EE8, Grandis JR4, Nguyen QT9, Ideker T10.
- Nature genetics.Nat Genet.2014 Sep;46(9):939-43. doi: 10.1038/ng.3051. Epub 2014 Aug 3.
- Head and neck squamous cell carcinoma (HNSCC) is characterized by aggressive behavior with a propensity for metastasis and recurrence. Here we report a comprehensive analysis of the molecular and clinical features of HNSCC that govern patient survival. We find that TP53 mutation is frequently accomp
- PMID 25086664
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
- 2歳まで観察し得た3pトリソミー症候群 - 顕微受精による第1例
- 畠 亮,馬場 志郎,斉藤 史郎,橘 政昭,出口 修宏,実川 正道,田崎 寛
- 日本泌尿器科學會雜誌 81(9), 1389-1395, 1990-09-20
- … #3と#8染色体の短腕異常(3p^-,8p^-)をそれぞれ1例ずつ認めるのみであった.文献上多いとされる3p^-は1例のみで,しかもtriploid細胞で観察したものである.ただし,2q^+と6q^+を示す分裂細胞は全て#3染色体のモノソミーを随伴していた.しかも#2,#6染色体の過剰部は#3染色体長腕のバンドパターンによく一致していた.従って,3q12〜qterが#2,#6染色体へ転座したことに伴い,3pが欠失したものと考え …
- NAID 110003085599
Related Links
- Chromosome 3, Monosomy 3p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 3 is missing (deleted or monosomic). The range and severity of symptoms and findings may be ...
- As noted above, the symptoms and physical findings associated with Chromosome 3, Monosomy 3p may vary in range and severity from case to case. However, according to reports in the medical literature, many affected individuals ...