ID | 30740 |
JaLCDOI | |
フルテキストURL | |
著者 |
Une, Tomoka
Okayama University
Yokoyama, Yuji
Okayama University
Ninomiya, Shinsuke
Okayama University
Shinozuka, Masako
Okayama University
Maruyama, Hidehiko
Okayama University
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抄録 | Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone. Molecular cytogenetic techniques, such as spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH), can help to detect chromosomal aberrations precisely. We analyzed the karyotypes in 6 cases of multiple congenital abnormalities and 1 case of spontaneous abortion (case 2). Three cases (cases 1, 6, and 7) had marker chromosomes, and 4 cases (cases 2-5) had chromosomal rearrangements. The karyotypes in cases 1, 2, and 3 were determined using FISH with probes based on the clinical findings and family histories. Spectral karyotyping (SKY) analysis in cases 4-7 showed that this method is useful and saves time. The combination of SKY and FISH analyses defi ned the range of the ring chromosome in case 7. We demonstrated that a combination of G-banding, FISH, and SKY can be applied effectively to the investigation of chromosomal rearrangement and to the detection of marker chromosome origins. We suggest the use of these methods for prenatal diagnosis, in which the inherent time limitations are particularly important.
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キーワード | spectral karyotyping
fluorescence in situ hybridization
molecular cytogenetics
marker chromosome
chromosome rearrangement
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Amo Type | Article
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出版物タイトル |
Acta Medica Okayama
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発行日 | 2006-10
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巻 | 60巻
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号 | 5号
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出版者 | Okayama University Medical School
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開始ページ | 279
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終了ページ | 287
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ISSN | 0386-300X
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NCID | AA00508441
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資料タイプ |
学術雑誌論文
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言語 |
英語
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論文のバージョン | publisher
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査読 |
有り
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PubMed ID | |
Web of Science KeyUT |