WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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- 1. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
- 2. 胎児心奇形：スクリーニング、評価、および母体のマネージメント fetal cardiac abnormalities screening evaluation and pregnancy management
- 3. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
- 4. 皮膚付属器癌 cutaneous adnexal tumors
English Journal
- A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report.
- Zhou YC1, Zhang C1, Zhai JS2, Li TF1, Wu QY1, Li WW1, Li N1, Li XJ1, Huang YF1, Cui YX1, Xia XY1.
- Molecular medicine reports.Mol Med Rep.2015 Jul;12(1):155-8. doi: 10.3892/mmr.2015.3436. Epub 2015 Mar 5.
- Partial trisomy 9 is a common autosomal trisomy, which is characterized by non‑specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated regio
- PMID 25760145
- Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings.
- Cakmak-Genc G1, Karakas-Celik S2, Dursun A2, Piskin İE3.
- Gene.Gene.2015 May 13. pii: S0378-1119(15)00580-6. doi: 10.1016/j.gene.2015.05.022. [Epub ahead of print]
- We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis wit
- PMID 25979671
- Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior.
- Martínez-Jacobo L1, Ortíz-López R2, Rizo-Méndez A3, García-Molina V3, Santuario-Facio SK4, Rivas F5, Rojas-Martínez A6.
- Gene.Gene.2015 Apr 10;560(1):124-7. doi: 10.1016/j.gene.2015.02.010. Epub 2015 Feb 7.
- This article describes a 19-year-old female with mild facial dysmorphism, asociality, decreased school performance, and psychotic behavior in whom the karyotype showed an extra-chromosomal marker characterized as 9p24.3-9q21.11 duplication by array-CGH. The 69Mbp duplicated segment in this patient i
- PMID 25667990
Japanese Journal
- 9pトリソミー症候群の1例
- 田村 昌平,楠本 康香,渡邊 麻里子,鈴木 朋,熊倉 杏奈,林 直毅,金口 紀彦,木下 陽介,有福 愛美,桜井 誠治,神谷 清,小長谷 光,深山 治久,篠塚 修
- 障害者歯科 32(4), 632-636, 2011-10-31
- NAID 10030300189
- 食道通過障害による誤嚥が反復する気管支炎の原因と考えられた9pトリソミーの1乳児例
- 南部 光彦,田中 尚子,塩見 夏子 [他],吉村 真一郎,長門 雅子,新宅 教顕,山中 忠太郎,松村 正彦,高橋 泰生,太田 茂
- 日本小児科学会雑誌 112(1), 47-51, 2008-01-01
- NAID 10024132018
- 8番染色体モノソミー,9番染色体トリソミー合併患者の麻酔経験
- 大嶋 和之,上野 高広,倉茂 秀平,丹羽 ひかる,広瀬 雅之,溝上 真樹,高倉 康
- 岐阜歯科学会雑誌 32(2/3), 81-82, 2006-02-20
- 染色体検査により8番染色体モノソミー,9番染色体トリソミーと診断された患者の多数歯う蝕に対する集中歯科治療における全身麻酔を経験した.患者は,小下顎症を認めたが,精神発達遅滞のため,開口の確認や口蓋部の観察ができず,挿管困難の予測が難しかったが,セボフルランによる緩徐導入と,ベクロニウムによる筋弛緩により,喉頭鏡を用いて経鼻的気管内挿管が施行できた.挿管困難が予想される患者で,コミュニケーションが …
- NAID 110006155039
Related Links
- ... Trisomy 9p. There is information on a survey covering many different rare forms of Trisomy, photos of other children and links to support groups. I hope you all have much pleasure in browsing through the site and that some ...
- Causes In individuals with Chromosome 9, Trisomy 9p, all or a portion of the short arm (p) of chromosome 9 (9p) appears three times (trisomy) rather than twice in the cells of the body. In addition, in some cases, a portion of the long ...
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★リンクテーブル★
| リンク元 | 「9pトリソミー」 |
「9pトリソミー」
- 英
- trisomy 9p
- 関
- 9番染色体