WordNet

chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell

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The association between rare large duplication of 16p11.2 and schizophrenia in the Singaporean Chinese population.

Zheng X, Bei JX, Xu H, Lee J, Chong SA, Sim K, Liany H, Shyong TE, Liu T, Foo JN, Irwan ID, Teo YY, Liu J.
Schizophrenia research.Schizophr Res.2013 May;146(1-3):368-9. doi: 10.1016/j.schres.2013.02.029. Epub 2013 Mar 17.
PMID 23510594

Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement.

Zhou Y1, Yao Q, Cui YX, Yao B, Fan K, Xia XY, Hu YA, Li XJ.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Apr;161A(4):897-900. doi: 10.1002/ajmg.a.35782. Epub 2013 Mar 12.
PMID 23495073

Mechanisms of formation of structural variation in a fully sequenced human genome.

Pang AW1, Migita O, Macdonald JR, Feuk L, Scherer SW.
Human mutation.Hum Mutat.2013 Feb;34(2):345-54. doi: 10.1002/humu.22240. Epub 2012 Nov 19.
Even with significant advances in technology, few studies of structural variation have yet resolved to the level of the precise nucleotide junction. We examined the sequence of 408,532 gains, 383,804 losses, and 166 inversions from the first sequenced personal genome, to quantify the relative propor
PMID 23086744

Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

YAMADA Keitaro,UCHIYAMA Atsushi,ARAI Mayuki,KUBODERA Kuniko,YAMAMOTO Yutaka,ORII Koji O.,NAGASAWA Hiroyuki,MASUNO Mitsuo,KOHNO Yoshinori
Congenital anomalies 49(2), 85-88, 2009-06-01
NAID 10027388162

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

金田鈴江,角谷哲司,熊田利郎,児玉秀敏
医療 45(3), 258-263, 1991
… そのうち12例までが通常型脆弱部位で, 1p22, 1q13, 3p14, 7q32, 6q22, 16q23であったが, なかでも3p14は最も高い頻度でみちれた. …
NAID 130004314620