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題名 | 49, XXXXY Syndrome with Severe Vesico-ureteral Reflux and Hydronephrosis: Report of One Case=49, XXXXY症候群合併嚴重膀胱-輸尿管尿液逆流及腎水腫--病例報告 |
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作者姓名(中文) | 張振宗; 邱寶琴; 陳英堯; 趙美琴; 謝凱生; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 46:1 民94.01-02 |
頁次 | 頁35-38+55 |
分類號 | 417.133 |
關鍵詞 | 49 XXXXY症候群; 非倍數染色體; 膀胱-輸尿管尿液逆流; 腎水腫; 49 XXXXY syndrome; Aneuploidy; Vesico-ureteral reflux; Hydronephrosis; |
語文 | 英文(English) |
英文摘要 | The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis Ⅰ and meiosis Ⅱ. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. |
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