頁籤選單縮合
題名 | Miller-Dieker Syndrome with Microdeletion of Chromosome 17p13.3: Report of One Case=Miller-Dieker氏症候群合併染色體17p13.3亞顯微缺失: 一病例報告 |
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作者 | 黃小春; 翁麗緻; 陳柏松; 張開屏; 陳燕彰; 王昇; Huang, Hsiao-chun; Bautista, Sy. Leticia; Chen, Bor-song; Chang, Kai-ping; Chen, Yann-jang; Wang, Wuu Sheng; |
期刊 | 中華民國小兒科醫學會雜誌 |
出版日期 | 19971100、19971200 |
卷期 | 38:6 民86.11-12 |
頁次 | 頁472-476+502 |
分類號 | 417.133 |
語文 | eng |
關鍵詞 | Miller-Dieker氏症候群; 染色體17p13.3; 亞顯微缺失; Lissencephaly; Miller-Dieker syndrome; Chromosome 17p13.3; Microdeletion; |
英文摘要 | Miller-Dieker syndrome (MDS)consists of lissencephaly, characteristic craniofacial ppearance and sometimes other birth defects Since 1983, it has been shown that most cases of MDS are caused by deletion of chromosome 17p13.3 Herein, we present a case of MDS in which the patient had characteristic craniofacial appearance in addition to lissencephaly. Although routine chromosome study showed a normal karyotype, deletion of chromosome 17p13.3 was suggested by high resolution GTG-banding and confirmed by FISH. About 36% of the cases reported by Dobyns had submicroscopic deletions of chromnosome 17p13.3 in spite of normal karyotypes in routine chromosome studies. The high frequency of submicroscopic deletion in Dobyn's cases and our present case strongly suggests that chromosomal studies, including high-resolution banding and molecular genetic approaches such as FISH, are mandatory whenever MDS is suspected in cases of lissencephaly with normal karyotypes in routine chromosomal work-up. |
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