WordNet

chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number

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1. 性染色体異常 sex chromosome abnormalities
2. 黒色腫（メラノーマ）の分子生物学 the molecular biology of melanoma
3. 遺伝的変異の概要 overview of genetic variation
4. 骨髄異形成症候群における細胞遺伝学および分子遺伝学 cytogenetics and molecular genetics of myelodysplastic syndromes
5. 眼ぶどう膜および結膜の悪性黒色腫 uveal and conjunctival melanomas

English Journal

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Genesio R1, Ronga V, Castelluccio P, Fioretti G, Mormile A, Leone G, Conti A, Cavaliere ML, Nitsch L.
Molecular cytogenetics.Mol Cytogenet.2013 Aug 1;6(1):29. doi: 10.1186/1755-8166-6-29.
BACKGROUND: Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo
PMID 23915422

Chromosome 16q loss--a genetic key to the understanding of breast carcinogenesis.

Bürger H1, de Boer M, van Diest PJ, Korsching E.
Histology and histopathology.Histol Histopathol.2013 Mar;28(3):311-20.
In the last decade the concepts of breast cancer dedifferentiation and progression have undergone a significant and substantial change. In the past it was widely believed that the detailed associations between genetic and morphological changes defined in the Vogelstein model of colorectal cancer pat
PMID 23348384

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

Japanese Journal

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

[原著］EXPRESSION OF 4P MONOSOMY PHENOTYPE IN HETEROZYGOUS PERICENTRIC INVERSION OF CHROMOSOME 4 ASSOCIATED WITH 18 TRISOMY MOSAICISM

Nantomi Kenji,Miyagi Chuken,Izumikawa Yosinori,Yosida Kaoru,Hirayama Kiyotake,Department of Pediatrics School of Medicine University of the Ryukyus
琉球大学医学会雑誌 : 医学部紀要 = Ryukyu medical journal 10(2), 87-93, 1987
… The phenotype of the patient was complicated with relatively mild phenotypes of 4p monosomy and 18 trisomy. … The karyotype was designated as 46, XY, inv(4) (pl6q21.2)/47, XY, inv(4) (p16q21.1), +18. … This is the first case that phenotype of 4p monosomy was expressed in inversion(4) heterozygosity. …
NAID 120002230665

Related Pictures

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and Frontiers | Chromosomal Heterogeneity of the G-401 Rhabdoid Tumor Cell Line: Unusual Ring 13 chromosome, partial trisomy 13, partial monosomy 13, and Poland syndrome - YouTube [Full text] 1p36 deletion syndrome: an update | TACG (a) Two partial G-banded karyotypes, with the abnormal chromosome 16 | Download (PDF) Factor VII deficiency and developmental abnormalities in a patient with partial Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal