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이돈행(Don Haeng Lee),최정현(Jung Hyun Choi),안홍석(Hong Suk Ahnn),윤일국(Il Kuk Youn),장태정(Tae Jung Chang) 대한소화기학회 1995 대한소화기학회지 Vol.27 No.4
Type 2 Crigler-Najjar syndrome is a rare hereditary disorder characterized by chronic, nonhe- molytic and modest unconjugated hyperbilirubinemia. There are currently reported three types ot' syndrome: Gilbert, Type 1 and 2 Crigler-Najjar syndrome. Type 2 Crigler-Najjar syndrome is cau- sed by hereditary glucuronosyl transferase deficiency and it can be differentiated from the Gilbert and Type 1 Crigler-Najjar syndrome by the severity of hyperbilirubinemia and its response to phenobarbital administration. We expierienced a 22 year-old male patient who had shown persistent jaundice and unconjugated hyperbilirubinemia from adolescence. It was noted that several persons had shown jaundice among his maternal family. The plasma bilirubin concentration was elevated after fasting for 48 hours and was decreased dramatically by phenobarbital treatment. (Korean J Gastroenterol 1995;27:4S8 - 492)
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장준,윤일국,김종완,송민호,김민범,박철신,김삼용 충남대학교부설 생명공학연구소 1991 생물공학연구지 Vol.1 No.-
Bone marrow cells from approximately 90% of patients who have clinically typical CML contain the ph^1 chromosome, identified by Rowley(1973) as the reciprocal translocation between the between long arm segment of chromosome 22 and the long arm of chromosome 9. In a recent review of CML patients, the 9 ; 22 translocation was identified in 92%, however variant translocations have been discovered in addition to the typical t(9 ; 22). These were thought to be of two kinds ; one appeared to be a simple translocation involving No. 22 and some chromosome other than No. 9(about 4%), and the other was a complex translocation involving three or more different chromosomes, two of which were No. 9 and No. 22 (about 4%). Recently, the authors experienced two cases of variant translocations in CML patients, one is simple translocation t(17 ; 22), the other is complex translocation t(1 ; 19 ; 22). So we report these cases with brief of literature.