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題 名 | Pallister-Killian Syndrome: Report of One Case=Pallister-Killian症候群:一病例報告 |
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作 者 | 吳慧中; 林隆煌; 蔡立平; 黃正宏; 洪焜隆; 廖宏才; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 47:3 民95.05-06 |
頁 次 | 頁139-141+162 |
分類號 | 417.509 |
關鍵詞 | 第十二對染色體短臂四套體; Pallister-Killian症候群; 先天異常; Tetrasomy 12p; Pallister-Killian syndrome; Congenital anomalies; |
語 文 | 英文(English) |
英文摘要 | Pallister-Killian Syndrome (PKS) is a rare sporadic congenital anomaly disorder, characterized by multiple congenital anomalies, especially craniofacial dysmorphism. It is also associated with mental retardation, seizure, skin pigmentation, and visceral malformations such as congenital diaphragmatic hernia, congenital heart defect, anorectal anomalies, and genital malformation. This syndrome usually presents with tissue-limited mosaicism of supernumerary 12p isochromosome i (12p). Moreover, diagnosis of Pallister-Killian Syndrome (PKS) is difficult because the ratio of abnormal to normal karyotyping is much lower in peripheral lymphocytes than in skin fibroblasts. We report the first case in Taiwan, who has tetrasomy 12p mosaic in peripheral lymphocytes. |
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