Korean J Hematol 1998; 33(1):
Published online March 31, 1998
© The Korean Society of Hematology
상대적 게놈 보합법(Comparative Genomic Hybridization, CGH)으로 확인된 1번 염색체 장완부 일부에서 중복 및 삼중복 염색체 이상을 보인 골수 이형성 증후군 1례
최종락, 이경아, 박규은, 송경순, 고윤웅
연세대학교 의과대학 임상병리과학교실,
연세대학교 의과대학 내과학교실
Reassessment of a Dup(1)(q21q32), Trp(1)(q21q32) in a Case of Myelodysplastic Syndrome by CGH (Comparative Genomic Hybridization)
Acquired partial duplication or triplication of the long arm of human chromosome 1 has been observed rarely in myelodysplastic syndrome(MDS). We describe a dup(1)(q21q32), trp(1)(q21q32) in a patient with refractory anemia of MDS. A 51-year-old man was admitted for dyspnea. Five months ago, he was diagnosed with myelodysplastic syndrome (RA) and iron deficiency anemia and had been treated with iron vitamin Bl2, oxymetholone, and prednisolone. The karyotype of trypsin-Giemsa-banded metaphase cells obtained from bone marrow aspirates was
46,XY,dup(1)(q21q32)×2[5]/46,XY,try(1)(q21q32)[2]/46,XY,dup(1)(q21q32),trp(1)(q21q32)[2] and confirmed the amplification of 1q21-lq32 by CGH (comparative genomic
hybridization). In this assay, test and reference DNAs are labeled with FITC and Texas Red, respectively and co-hybridized to normal metaphase chromosomes. Ratio profiles of each individual chromosome were analyzed using a Quips-XL software(Vysis, Downers Grove, IL, USA). The thresholds of gain and loss were defined 1.2 and 0.8, respectively.
Keywords Myelodysplastic syndrome; dup(1)(q21q32); trp(1)(q21q32); Comparative genomic hybridization;
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Korean J Hematol 1998; 33(1): 110-116
Published online March 31, 1998
Copyright © The Korean Society of Hematology.
상대적 게놈 보합법(Comparative Genomic Hybridization, CGH)으로 확인된 1번 염색체 장완부 일부에서 중복 및 삼중복 염색체 이상을 보인 골수 이형성 증후군 1례
최종락, 이경아, 박규은, 송경순, 고윤웅
연세대학교 의과대학 임상병리과학교실,
연세대학교 의과대학 내과학교실
Reassessment of a Dup(1)(q21q32), Trp(1)(q21q32) in a Case of Myelodysplastic Syndrome by CGH (Comparative Genomic Hybridization)
Jong Rak Choi, Kyung A Lee, Quehn Park, Kyung Soon Song, Yun Woong Ko
Department of Clinical Pathology, Internal Medicine, Yonsei University College of Medicine, Seoul, Korea
Abstract
Acquired partial duplication or triplication of the long arm of human chromosome 1 has been observed rarely in myelodysplastic syndrome(MDS). We describe a dup(1)(q21q32), trp(1)(q21q32) in a patient with refractory anemia of MDS. A 51-year-old man was admitted for dyspnea. Five months ago, he was diagnosed with myelodysplastic syndrome (RA) and iron deficiency anemia and had been treated with iron vitamin Bl2, oxymetholone, and prednisolone. The karyotype of trypsin-Giemsa-banded metaphase cells obtained from bone marrow aspirates was
46,XY,dup(1)(q21q32)×2[5]/46,XY,try(1)(q21q32)[2]/46,XY,dup(1)(q21q32),trp(1)(q21q32)[2] and confirmed the amplification of 1q21-lq32 by CGH (comparative genomic
hybridization). In this assay, test and reference DNAs are labeled with FITC and Texas Red, respectively and co-hybridized to normal metaphase chromosomes. Ratio profiles of each individual chromosome were analyzed using a Quips-XL software(Vysis, Downers Grove, IL, USA). The thresholds of gain and loss were defined 1.2 and 0.8, respectively.
Keywords: Myelodysplastic syndrome, dup(1)(q21q32), trp(1)(q21q32), Comparative genomic hybridization,
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