- 作者: 武光東;?惠珍;王昇;黃碧桃
- 作者服務機構: 國立陽明醫學院 ; 中央研究院動物研究所; 榮民總醫院小兒科
- 中文摘要: 本文係以臺北縣新店私立?光?養院之病童?研究對象。經發現一個十四?半之男孩,患有嚴重智力不足,乳房較發育,乳頭相隔甚遠,駝背,胸部脊柱側突等症狀。於一年?先後三次抽血培養淋巴球,共檢?分析191個細胞之染色體, 發現所有細胞中只有一條正常第16號染色體,另一條16號染色體在89%的細胞中呈環狀,有11.0%的細胞無環狀染色體 偶有雙?絲點(dicenfric)的環及有缺口的環。綜觀環之大小及G染色帶之數目,環?之遺傳物質似缺失無多。本報 告?活人中發現環狀16號染色體的第二例。
- 英文摘要: A 141/2 year-old boy whose main clinical features included severe mental retardation, gynecomastia with widely separated nipples, kyphosis and scoliosis in the thoracic part of the spine and hyperkeratosis of skin over the dorsal part of both hands was found to have a ring chromosome 16. By comparing the size and banding patterns of the ring and its normal homologue, the amount of the genetic material deleted in the ring seems to be very limited. This is the second case of ring chromosome 16 found in a liveborn human being.
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