第7卷‧第1期,
198301
, pp. 57-59
一個額外小染色體在家族中之傳遞及分離
- 作者:
武光東; 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:
台灣省立台南啟智學校101名受檢學童中,發現一名13歲唐氏症患者,其淋巴球內之染色體數為48條。除第21號多
一條外,另有一條額外的小染色體,其著絲點在中央,兩旁各有一個深色C帶,末端各接一衛星體。經家族追?後,發
現其父及一兄亦有此額外小染色體,唯彼等外表正常,無任何臨床症狀。其餘三位家族成員(母、兄、姊)染色體組成
正常。本文曾對此小染色體之來源及其與唐氏症之關係加以討論。
且
- 英文摘要:
A total of 101 students with an IQ of from 25 to 50 from the Taiwan Provincial Tainan School forthe Mentally Retarded was examined cytogenetically. In addition to trisomic 21, an extra bisatellited smallchromosome was found in the lymphocytes of a 13-year old boy with typical Down's syndrome features.His karyotype was 48, XY, +21, +mar. This extra chromosome was metacentric with one dark C-band oneach side of the centromere. A follow-up study on his parents and three sibs revealed that all of them werephenotypically normal but the father and one of his elder brothers had this extra chromosome too. Theremaining relatives were karyotypically normal. The origin of this extra small chromosome and its relation-ship with trisomic 21 were discussed.
- 中文關鍵字:
--
- 英文關鍵字:
--