Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ
 hybridization and G-banding analysis using high resolution banding technique

Karyotype analysis of cells has been in use for many years and has led to the causative genetic change in numerous clinical syndromes, including trisomy 21, Klinefelter, Turner, Prader-Willi and Angelman syndromes. The resolution of the test depends on the degree of condensation of the chromosomes in the karyotype, but even at high resolution (> 800 bands per haploid set) the changes identified are in the order of 5 Mb of DNA. Fluorescence in situ hybridization (FISH) bridges the gap between the relatively low resolution of karyotype analysis and the very high resolution of DNA analysis. With FISH it is possible to identify smaller changes in individual cells. The size of the change identified correlates with the size of the probe, which vary from 120 kb to 600 kb in size. FISH is widely used to confirm deletions or duplications identified by newer methods, such as array analysis. This review contains 8 figures, 3 tables, and 25 references. Keywords: Cytogenetics, chromosome, karyotype, chromosomal resolution, tissue culture, fluorescence, hybridization, probe

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Study On the Clonal Origin of Dysplastic Cells by Fluorescence in Situ Hybridization in Myelodysplastic Syndromes.

Blood ◽

10.1182/blood.v114.22.4858.4858 ◽

2009 ◽

Vol 114 (22) ◽

pp. 4858-4858

Author(s):

Jun Zhang ◽

Yongquan Xue ◽

Jinlan Pan ◽

Yafang Wu ◽

Juan Shen ◽

...

Keyword(s):

Bone Marrow ◽

In Situ Hybridization ◽

Fluorescence In Situ Hybridization ◽

Myelodysplastic Syndromes ◽

Chromosomal Abnormalities ◽

Bone Marrow Cells ◽

Conflicts Of Interest ◽

Banding Technique ◽

Clonal Origin

Abstract Abstract 4858 Objective To determining the clonal origin of dysplatic cells in Myelodysplastic syndromes (MDS) . Methods Karyotypic analyses of bone marrow cells using R-banding technique were carried out to determine the chromosomal abnormalities. Interphase fluorescence in situ hybridization (FISH) and morphologic analysis of bone marrow aspirates were performed in the same cells to investigate the clonal origin of dysplatic cells in 8 MDS patients. Result All patients had clonal karyotypic abnormalities: simple abnormality in 1 patient, complex abnormalities in 6 patients, coexistent of two unrelated clones in 1 patient. Most of dysplastic cells in 7 of 8 MDS patients derived from neoplasia clone while 1 patient had a reverse result,no matter what cell lineage was involved. Some of non-dysplastic cells of all patients derived from malignant clone; in 7 patients, the proportion of dysplastic cells in malignant clone were significantly higher than that of non- malignant clone. Conclusion Most of dysplastic cells in MDS derived from malignant clones, while the minority of them derived from non-malignant clones. Thus, it is reasonable to expect that in most cases myelodysplasia is present in malignant clone and can be taken as an important diagnostic evidence for MDS. Disclosures No relevant conflicts of interest to declare.

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