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頁籤選單縮合
題名 | Mosaic Ring Chromosome 14 and Monosomy 14 Presenting with Growth Retardation, Epilepsy, and Blepharophimosis=以生長遲滯、癲癇、與眼裂狹窄為表現的環形染色體十四及單體症 |
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作者 | 侯家瑋; | 書刊名 | 長庚醫學 |
卷期 | 27:5 2004.05[民93.05] |
頁次 | 頁373-378 |
分類號 | 417.133 |
關鍵詞 | 生長遲緩; 抽搐; 環形染色體十四; 第十四號染色體; 第十四號染色體單體症; Chromosome 14; Ring chromosome 14; Monosomy 14; Seizure; Growth retardation; |
語文 | 英文(English) |
中文摘要 | 環形染色體是一種罕見的染色體異常,性質上也不穩定。帶有環形染色體的病人常因此染色體重組之構造變化嚴重程度而有變異頗大的表現型。一名一歲男孩因肌肉張力低下、眼裂狹窄、眼瞼下垂、球形鼻、精神運動發展遲緩及抽搐而做染色體檢查。結果發現為拼湊型第十四號染色體環形及單體症,其核型為46, XY, -14/46, XY, r(14)(p11.2q32.31或q32.2)/46, XY, dic r(14)(比例為10/84/6)。此病人之臨床長徵符合環形染色體14之描述。另外,他的第十四號染色體單體症、環形染色體之長臂末端缺損及雙環之部分三體症可解釋此病人之對phenobarbital較佳反應與較輕微之表現型。 |
英文摘要 | Ring Chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, belpharophiosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. his karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)[84]/45, XY, -14[10]/46, XY, dic r(14)[6]. His seizures responded well to Phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature. |
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