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Tomoharu Tokutomi
Department Kawasaki Medical School Kawasaki Medical School, Department of Pediatrics, Position Professor with Special Assignment |
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| Article types | 原著 |
| Language | English |
| Peer review | Peer reviewed |
| Title | dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia. |
| Journal | Formal name：American journal of medical genetics. Part A ISSN code：1552-4825 |
| Domestic / Foregin | Foregin |
| Publisher | WILEY-LISS |
| Volume, Issue, Page | 143A(12),pp.1334-7 |
| Author and coauthor | Tomoharu Tokutomi,Shin Hayashi,Kohsuke Imai,Ayako Chida,Takahiro Ishiwata,Yuh Asano,Johji Inazawa,Shigeaki Nonoyama |
| Authorship | Lead author,Corresponding author |
| Publication date | 2007/06/15 |
| Summary | 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 |