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頁籤選單縮合
題名 | Inherited Tandem Duplication of the X Chromosome: Dup(X)(q13.2-q21.2)in a Family=一家族之遺傳性X染色體長臂重覆複製:Dup(X)(q13.2-q21.2) |
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作者姓名(中文) | 侯家瑋; | 書刊名 | 長庚醫學 |
卷期 | 27:9 2004.09[民93.09] |
頁次 | 頁685-690 |
分類號 | 417.133 |
關鍵詞 | X染色體; X染色體長臂重覆複製; 生長不良; 免疫缺乏症; 腎結石; X chromosome; Xq duplication; Failure to thrive; Immunodeficiency; Nephrolithiasis; |
語文 | 英文(English) |
中文摘要 | 一名2歲有生長不良及多重畸形的男孩被發現帶有源於母親的X染色體長臂重覆複製。螢光原位雜交法發現XIST(基座位於Xq13.2)之雙倍劑量及經由全X染色體探針之分析証實病人之核型:dup(X)(q13.2-q21.2)。病童罹患的疾病包括低張力、胃食道逆流、喉頭軟化症、重覆感染、近端腎小管酸中毒、免疫球蛋白G4缺乏症、胼胝體發育不良及高尿鈣症合併腎結石。這些症狀都是尚未報告的。其母及姊有相同核型,但是母親身體健康無異狀但姊姊有腎結石及高尿鈣症。本文將報告且討論此帶有複製Xq家庭成員之臨床變異。 |
英文摘要 | A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q 13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole chromosome X painting on the abnormal X were noted. He suffered from hypotonia, gastroesophageal reflux, laryngomalacia, recurrent infections, immunodeficiency (IgG4 deficiency), dysgenesis of the corpus callosum, proximal renal tubular acidosis, and nephrolithiasis. His mother and elder sister also had the same rearrangement, the dup(X), on one of their X chromosomes. However, the mother was in good health, but the sister suffered from nephrolithiasis. The clinical variability in this family with the Xq duplication is reported and discussed. |
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