- 期刊
第十八對染色體長臂缺失症候群
18q Deletion Syndrome
摘要
第十八對染色體長臂缺失症後群是一種罕見的染色體異常疾病。其臨床表現是相當的多樣化；包括顏面異常（如顏面中部發育不良、鯉魚嘴等），智能障礙，身材矮小，聽力障礙，肢體異常，甚至免疫功能缺損等等。在本篇文章中，我們除了描述一位患有鑲嵌型（即有部分的細胞核型為正常，部分細胞核型為異常）第十八對染色體長臂缺失症後群女童之臨床表徵外，我們同時也在長期的追蹤過程中發現，該位患童的週邊血液淋巴球異常細胞（即含有第十八對染色體長臂部分缺失之淋巴球）經過一年的時間後並無法再次由週邊血液經細胞培養後測得，這個現象，我們也一併在文中提出討論。
並列摘要
18q deletion syndrome is a rare chromosomal disorder. The phenotype is highly variable but is characterized by minor facial anomalies such as midface hypoplasia, ”carp-shaped” mouth mental retardation, short stature, hearing impairment, limb abnormalities and even immunodeficiencies. We describe not only the clinical manifestations of a patient with mosaicism for 18q deletion, but also a unique phenomenon called ”preferential selection” in which abmormal chromosomes initially observed appeared normal at one year follow-up.
延伸閱讀
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