Reassessment of a Dup (1)(q21q32), Trp (1)(q21q32) in a Case of Myelodysplastic Syndrome by CGH (Comparative Genomic Hybridization).
- Author:
Jong Rak CHOI
1
;
Kyung A LEE
;
Quehn PARK
;
Kyung Soon SONG
;
Yun Woong KO
Author Information
1. Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Myelodysplastic syndrome;
dup (1)(q21q32);
trp (1)(q21q32);
Comparative genomic hybridization
- MeSH:
Anemia, Iron-Deficiency;
Anemia, Refractory;
Arm;
Bone Marrow;
Chromosomes, Human;
Comparative Genomic Hybridization;
DNA;
Dyspnea;
Fluorescein-5-isothiocyanate;
Humans;
Iron;
Karyotype;
Metaphase;
Middle Aged;
Myelodysplastic Syndromes*;
Oxymetholone;
Prednisolone;
Texas;
Vitamin B 12
- From:Korean Journal of Hematology
1998;33(1):110-116
- CountryRepublic of Korea
- Language:Korean
-
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 B12, oxymetholone, and prednisolone. The karyotype of trypsin-Giemsa-banded metaphase cells obtained from bone marrow aspirates was 46, XY, dup (1)(q21q32)x2[5]/46,XY,trp (1)(q21q32)[2]/46, XY, dup (1)(q21q32), trp (1)(q21q32)[2] and confirmed the amplification of 1q21-1q32 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.
