Korean J Hematol.  1998 May;33(1):110-116.

Reassessment of a Dup (1)(q21q32), Trp (1)(q21q32) in a Case of Myelodysplastic Syndrome by CGH (Comparative Genomic Hybridization)

• Choi JR
• Lee KA
• Park Q
• Song KS
• Ko YW

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.

Keyword

Myelodysplastic syndrome; dup (1)(q21q32); trp (1)(q21q32); Comparative genomic hybridization

MeSH Terms

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
DNA
Fluorescein-5-isothiocyanate
Iron
Oxymetholone
Prednisolone
Vitamin B 12