- 期刊
Miller-Dieker Syndrome with Microdeletion of Chromosome l7pl3.3: 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
摘要
Miller-Dieker氏綜合病徽包括平腦症和典型面相，有時合併其他多種先天性缺陷，過去其病已被認爲是正染色體隱性遺傳疾病，但是在1983年Dobyns學者發現第17對染色體短臂上的變化以後，有部分病人可做産前診斷。Dobyns已報告大約36%的病人雖然常規染色體檢查爲正常，但有染色體17p13.3亞顯微缺失的現象，吾等報告一個足月女嬰，她有平腦症，典型面相，動脈導管存放症和智能遲緩，她的染色體檢查是從螢光原位雜交(FISH)才測出染色體17p13.3缺失，父母親的芝螢光原位雜交(FISH)才測出染色體17p13.3缺失，父母親的螢光原位雜交檢查爲正常染色體。
並列摘要
Miller-Dieker syndrome (MDS)consists of lissencephaly, characteristic craniofacial appearance 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 l7pI3.3 was suggested by high resolution GTG-banding and confirmed by FISH. About 36% of the cases reported by Dobyns had submicroscopic deletions of chromosome 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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