Clinical and cytogenetic study of 6 cases of hematological disorders associated with 20q- and t (20;21) (q11;q11) abnormalities.
- VernacularTitle:Ataxin-3相互作用蛋白A3IP的克隆与细胞及组织定位的初步研究
- Author:
Chun-xiao WU
1
;
Jin-lan PAN
;
Hui-ying QIU
;
Yong-quan XUE
;
Su-ning CHEN
;
Jun ZHANG
;
Ya-fang WU
;
Juan SHEN
;
Shu-xiao BAI
;
Yong WANG
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Chromosome Deletion; Chromosomes, Human, Pair 20; Chromosomes, Human, Pair 21; Female; Humans; In Situ Hybridization, Fluorescence; Male; Middle Aged; Myelodysplastic Syndromes; genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma; genetics; Translocation, Genetic
- From: Chinese Journal of Medical Genetics 2013;30(2):138-142
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze clinical and cytogenetic features of hematological disorders associated with 20q- and t (20;21) (q11;q11) abnormalities.
METHODSFollowing short-term culture of bone marrow cells, karyotypic analysis was carried out with R-banding. 20q- and t(20;21) (q11;q11) was detected by fluorescence in situ hybridization (FISH) using dual-color 20q11/12 probe, ST 20qter /ST 21qter probes, SE20(D20Z1)/SE 13/21 probes, and WC20/WC21 probes.
RESULTSSix (2.3%) of the 257 patients with 20q- detected by conventional karyotypic analysis were found to have t(20;21) (q11;q11) abnormality. Five cases had myelodysplastic syndrome, 1 had acute lymphoblastic leukemia. Above results were all confirmed by FISH.
CONCLUSIONi (20q-), t(20;21) (q11;q11) seems to be a rare but recurrent chromosomal abnormality which is specifically associated with myeloid disease, late occurrence and poor prognosis. The translocation between chromosome 20q11 and 21q11 may form a novel fusion gene which has an important role in the pathogenesis of the disease.
