8p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
- Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
- Burnside RD1, Pappas JG, Sacharow S, Applegate C, Hamosh A, Gadi IK, Jaswaney V, Keitges E, Phillips KK, Potluri VR, Risheg H, Smith JL, Tepperberg JH, Schwartz S, Papenhausen P.Author information 1Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA. burnsir@labcorp.comAbstractIndividuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental duplications at 8p23.1, flanking the gene, GATA4. Haploinsufficiency of this gene has been implicated in cardiac defects seen in numerous individuals with terminal 8p deletion. Current microarray technologies allow for the precise elucidation of the size and gene content of the deleted region. We present three individuals with isolated terminal deletion of 8p distal to the segmental duplication telomeric to GATA4. These individuals present with a relatively mild and nonspecific phenotype including mildly dysmorphic features, developmental delay, speech delay, and early behavior issues.
- American journal of medical genetics. Part A.Am J Med Genet A.2013 Apr;161A(4):822-8. doi: 10.1002/ajmg.a.35699. Epub 2013 Mar 12.
- Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defe
- PMID 23495222
- Subtelomeric fish findings in Turkish patients with idiopathic mental retardation.
- Tos T1, Vurucu S2, Karkucak M3, Kozan S4, Gul D4, Akin R2.Author information 1Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. tulaytos@hotmail.com2Department of Pediatric Neurology, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.3Department of Medical Genetics, Sakarya University Education and Research Hospital, Sakarya, Turkey.4Department of Medical Genetics, Gülhane Military Medical Academy and Medical Faculty, Ankara, Turkey.AbstractSubtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified in 5 patients, with a detection rate of 7.4%. The deletions involved 5 different subtelomeric regions (1p, 2q, 8p, 9p and 10p). The detection of subtelomeric rearrangements is of great importance in offering genetic counseling and prenatal diagnosis.
- Genetic counseling (Geneva, Switzerland).Genet Couns.2013;24(3):259-64.
- Subtelomeric rearrangements are the major cause of idiopathic mental retardation (IMR). This study included 67 Turkish children with IMR. Subtelomere fluorescence in situ hybridization (FISH) was used to determine the subtelomeric rearrangements. Submicroscopic subtelomeric deletions were identified
- PMID 24341139
- A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features.
- Miya K1, Shimojima K, Sugawara M, Shimada S, Tsuri H, Harai-Tanaka T, Nakaoka S, Kanegane H, Miyawaki T, Yamamoto T.Author information 1Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.AbstractThe contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are located in this region within a distance of 3.2Mb. We identified a 3.7Mb deletion of 8p11.2 in a 19-month-old female patient with hereditary spherocytosis. The identified deletion included ANK1, but not FGFR1, which is consistent with the absence of any phenotype or laboratory findings of Kallmann syndrome. Compared with the previous studies, the deletion identified in this study was located on the proximal end of 8p, indicating a pure interstitial deletion of 8p11.21. This patient exhibited mild developmental delay and distinctive facial findings in addition to hereditary spherocytosis. Thus, some of the genes included in the deleted region would be related to these symptoms.
- Gene.Gene.2012 Sep 10;506(1):146-9. doi: 10.1016/j.gene.2012.06.086. Epub 2012 Jul 4.
- The contiguous gene syndrome involving 8p11.2 is recognized as a combined phenotype of both Kallmann syndrome and hereditary spherocytosis, because the genes responsible for these 2 clinical entities, the fibroblast growth factor receptor 1 (FGFR1) and ankyrin 1 (ANK1) genes, respectively, are locat
- PMID 22771917
Japanese Journal
- 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
- 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
- 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
- … も#7染色体のトリソミーを示していた.マーカー染色体は7例中6例に認めた.染色体の構造異常は数の異常と比べて出現頻度は少なく,クローン性異常は#2と#6染色体の長腕異常(2q^+,6q^+)と#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 …
- NAID 110003085599
Related Links
- Important It is possible that the main title of the report Chromosome 8, Monosomy 8p is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by ...
- General Discussion Chromosome 8, Monosomy 8p is a rare chromosomal disorder characterized by deletion (monosomy) of a portion of the eighth chromosome. Associated symptoms and findings may vary greatly in range and ...
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- 英
- monosomy 8p
- 関
- 8番染色体