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トクトミ トモハル
Tomoharu Tokutomi
徳富 智明 所属 川崎医科大学 医学部 臨床医学 小児科学 職種 特任教授 |
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| 論文種別 | 原著 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia. |
| 掲載誌名 | 正式名：American journal of medical genetics. Part A ISSNコード：1552-4825 |
| 掲載区分 | 国外 |
| 出版社 | WILEY-LISS |
| 巻・号・頁 | 143A(12),pp.1334-7 |
| 著者・共著者 | Tomoharu Tokutomi,Shin Hayashi,Kohsuke Imai,Ayako Chida,Takahiro Ishiwata,Yuh Asano,Johji Inazawa,Shigeaki Nonoyama |
| 担当区分 | 筆頭著者,責任著者 |
| 発行年月 | 2007/06/15 |
| 概要 | A 15-year-old girl had exertion dyspnea, focal nodular hyperplasia of the liver, portal vein hypoplasia, portopulmonary hypertension, mental retardation, and minor facial abnormalities. Cytogenetic analysis demonstrated an abnormal chromosome 8 with 8p22-pter duplication and 8q24.3-qter deletion, with the duplicated 8p segment attached to band 8q24-3. Her mother had a pericentric inversion of chromosome 8, inv(8)(p22q24.3). Therefore, the girl's abnormal chromosome 8 was a recombinant of maternal inversion chromosome: 46,XX,rec(8)clup(8p)inv(8)(p22q24.3)mat. Further characterization of the recombinant chromosome, using array CGH and regional FISH analyses, defined 15 Mb distal Sp duplication and 0.5 Mb 8q deletion. Possible correlation of the recombinant chromosome and hepatic focal nodular hyperplasia in the patient is discussed. (c) 2007 Wiley-Liss, Inc. |
| DOI | 10.1002/ajmg.a.31770 |
| PMID | 17506094 |