頁籤選單縮合
題 名 | Monosomy of Chromosome 10q26 with Mild Psychomotor Retardation: Report of One Case=以輕微心智發展遲緩為表現的10q26單體症:一病例報告 |
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作 者 | 巫康熙; 余明宗; 蔡輔仁; 彭慶添; 蔡長海; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 43:3 民91.05-06 |
頁 次 | 頁153-156+178 |
分類號 | 417.133 |
關鍵詞 | 單染色體10q26; 心智發展遲緩; Monosomy 10q26; Psychomotor retardation; |
語 文 | 英文(English) |
中文摘要 | 第10對染色體長臂遠端的部份單染色體是一種不常見的染色體異常,主要監床特徵包括:生長遲緩、心智發育遲緩、顏面異常、先天性心臟、肛門生殖器、泌尿道異常。本文報告一女童在4個月時診斷為de novo的第10對染色體長臂的遠端缺失,其斷點在10q26,在心智發展評估後,發現病患只有輕微發展遲緩。並回顧探討相關文獻。 |
英文摘要 | Partial monosomy of distal l0q is an uncommon chromosomal disorder Its characteristic features include growth retardation, psychomotor delay, facial dysmorphia, congenital heart disease, and anogenital/urinary tract anomalies. Reported here is a female infant at age 4 months who was diagnosed with a de novo deletion of the long arm of chromsome 10, with a breakpoint at l0q26. Using the Bayley scales of infant development II, she was found to have mild psychomotor delay. We also review the related literature of partial deletion of the long arm of chromosome 10. (Acta Paediatr Tw 2002; 43:153-6) |
本系統中英文摘要資訊取自各篇刊載內容。