1qトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
UpToDate Contents
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English Journal
- A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.
- Wang J1, Fu C1, Zhang S1, Luo J1, Ouyang L1, Xie B1, Sun W1, He S1, Su J1, Hu X1, Fei D1, Chen R1, Fan X1, Ou S1, Chen S2, Shen Y3.
- Gene.Gene.2016 Dec 5;594(1):59-65. doi: 10.1016/j.gene.2016.08.042. Epub 2016 Aug 31.
- De novo partial distal 1q trisomy is uncommon and mostly occurs in combination with monosomy of another chromosome due to a parental translocation. Distal 1q trisomy co-occurring with another de novo duplication on a separate chromosome is extremely rare. Here, we reported a patient carrying two lar
- PMID 27591971
- Mixed Phenotype Acute Leukemia with t(12;17)(p13;q21)/TAF15-ZNF384 and Other Chromosome Abnormalities.
- Yamamoto K1, Kawamoto S, Mizutani Y, Yakushijin K, Yamashita T, Nakamachi Y, Kawano S, Hayashi Y, Matsuoka H, Minami H.
- Cytogenetic and genome research.Cytogenet Genome Res.2016 Sep 9. [Epub ahead of print]
- The t(12;17)(p13;q11∼21) translocation is a very rare but recurrent cytogenetic aberration observed predominantly in early pre-B acute lymphoblastic leukemia (ALL) with CD19+CD10-CD33+ phenotype. This translocation was shown to form a fusion gene between TAF15 at 17q12 and ZNF384 at 12p13. On the
- PMID 27607436
- [Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy].
- Lin S1, Zhang Z, Wu J, Ji Y, Fang Q, Chen B, Zhou Y.
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2016 Jun;33(3):340-3. doi: 10.3760/cma.j.issn.1003-9406.2016.03.014.
- OBJECTIVE: To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.METHODS: G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried
- PMID 27264817
Japanese Journal
- P-13. dic(1;15) and der(15)t(1;15), a type of 1q trisomy in myeloid disorders(Abstracts of the oral and poster presentations)
- USAMI Akemi,OKAJIMA Kaori,YOSHINAGA Kentaro,SAMEJIMA Yuichi,MORI Naoki,MASUDA Michihiko,MOTOJI Toshiko,OKADA Michiko
- Chromosome science 9(4), 137, 2006
- NAID 110006546809
- Therapy-related Myelodysplastic Syndrome with Trisomy 1q due to der (1 ; 7) and Megakaryoblastic Proliferation Developing during Complete Remission of Therapy-related Acute Myeloid Leukemia with t(8 ; 21)
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- Internal medicine 43(7), 582-586, 2004-07-01
- … Therapy-related acute myeloid leukemia (t-AML) with t(8;21) and therapy-related myelodysplastic syndrome (t-MDS) with trisomy 1q due to der(1;7) developed in the same patient with T-cell lymphoma at intervals of six years. … After the development of t-MDS with trisomy 1q, during complete remission of t-AML, the number of megakaryoblasts increased to maximally 74% of leukocytes in the blood. …
- NAID 10013350023
- Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
Related Links
- Trisomy 1q symptoms, causes, diagnosis, and treatment information for Trisomy 1q (Chromosome 1q duplication syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and ...
- Joseph’s Story Joseph is now nineteen-years old, with a heart that is considered fully repaired. Joseph Merrow, Partial Trisomy 18, del 1q, unbalanced translocation, 9/9/1994, Lakeside, CA Joseph was born in late September 1994 ...
★リンクテーブル★
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- 英
- trisomy 1q
- 1番染色体の長腕が部分欠失した染色体異常。
- 臨床症状として、出生時低体重、顔面奇形、発育障害、小頭症、心奇形、消化管狭窄、口蓋裂、角膜混濁、小眼球症などを呈する。
- 出生後早期に死亡する症例が多いが、生存すると高度の精神遅滞がみられる。