Clinical and experimental study of two cases of myelodysplastic syndromes with double isochromosome 20q- anomaly.
- Author:
Sheng-lan GONG
1
;
Yong-quan XUE
;
Jian-min WANG
;
Feng-lai HAN
;
Yan-qun XU
;
Jin-ying LI
Author Information
- Publication Type:Case Reports
- MeSH: Chromosome Banding; Chromosomes, Human, Pair 20; genetics; Female; Humans; In Situ Hybridization, Fluorescence; Isochromosomes; Karyotyping; Male; Middle Aged; Myelodysplastic Syndromes; genetics
- From: Chinese Journal of Hematology 2005;26(1):35-38
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical and laboratory characteristics of two myelodysplastic syndromes (MDS) patients with double isochromosome 20q- anomaly.
METHODSBone marrow cell chromosome preparations were made with both direct method and short-term culture. Karyotype analysis was performed by R-banding technique, and dual-color FISH (fluorescence in situ hybridization) by using a 20q telomeric probe and a sequence-specific probe for 20q12.
RESULTSThe clinical and hematological findings were comparable with diagnosis of MDS. Karyotype analysis showed that both patients had double isochromosome 20q- anomaly: case 1 is 46, XX, der(20)? i(20q-) [6]/46, idem, der (6) i (6p) [1]/47, idem, +der (20)? i (20q-) [3]/47, idem, der(6)i (6p), +der(20)? i (20q-) [20]; case 2 is 45, XY, -7, der (20)? i (20q-) [17]/46, idem, +der(20) ? i(20q-) [3]. Two derivative chromosomes 20 were proved 20q isochromosomes with interstitial deletions by dual-color FISH in one patient.
CONCLUSIONSDouble isochromosome 20q- anomaly is a rare recurrent karyotype abnormality in MDS, and signals a poor prognosis.
