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題名 | Supernumerary Chromosome Marker Der(22)t(11;22) Resulting from a Maternal Balanced Translocation=源於平衡轉位母親之多餘染色體標誌der(22)t(11;22) |
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作者 | 侯家瑋; | 書刊名 | 長庚醫學 |
卷期 | 26:1 2003.01[民92.01] |
頁次 | 頁48-52 |
分類號 | 417.133 |
關鍵詞 | 第二十二號染色體衍生物; 轉位(11;22); 多餘染色體標誌; 11q部分三體症; 22q部分三體症; der(22); t(11;22); Supernumerary marker; Partial trisomy 11; Partial trisomy 22; |
語文 | 英文(English) |
中文摘要 | 第二十二號染色體衍生物症候群[簡稱der(22)症]是一種罕見的疾病,臨床症狀包括?天多重畸形及重度智障。已知因第十一及第二十二號染色體之間不平衡轉位所形成的der(22)t(11;22)是人類多餘染色體標誌的成因之一。本文報告一典型der(22)症男孩。細胞遺傳學檢查發現多出一個染色體標誌。經由父母親的染色體檢查發現母親為一平衡轉偣的帶病者,核型為46, XX, t(11;22)(q23.3; q11.2),父則則為46, XY。由此可確立此染色體標誌乃源於der(22)t(11;22)(q23.3; q11.2)。病人的表現型,包括?部特徵、肌肉低張力、精神運動遲緩、?天性心臟病及生殖泌尿道畸形皆是染色體11q末端及22q中心小體周圍多出遺傳物質共同作用的結果。 |
英文摘要 | Derivative 22 [der(22)] syndrome is a rare disorder associated with multiple congenital anomalies including pre-auricular skin tags or pits, contruncal heart defects, and profound mental retardation. Der(22)t(11;22) is one the causes of supernumerary chromosome markers (mar) in humans. We present a boy with developmental delay and multiple anomalies consistent with the supernumerary der(22) syndrome. Cytogenetic analysis shoed an abnormal chromosome complement of 47, XY, +mar in all 50 cells analyzed. The karyotype of his mother showed a reciprocal translocation over the distal bands 11q23 and 22q11, respectively, i.e., 46, XX, t(11;22)(q23.3; q11.2), and that of his father was 46, XY. Thus, the nature of the supernumerary chromosome markers was of der(22)t(11;22)(q23.3; q11.2). the clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defecgs, and urogenital anomalies, were the combined effects of partial trisomies ofr both distal 11q and perientromeric 22q. |
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