t(X;20)(q13;q13.3)

Identity

	Fig. 1. Partial karyotypes of the translocation t(X;20)(q13;q13.3) for cases 1‚4 (top to bottom; see case report section). Arrows indicate the derivatives 20 and X.

Clinics and Pathology

Disease	myelodysplastic syndromes (MDS): refractory anaemia with excess of blasts (RAEB-RAEBt), refractory anaemia (RA), MDS sideroblastic anemia and MDS pancytopenia and thrombocytopenia most often (5 cases); polycytemia vera --> acute myeloid leukemia (AML)-M1; myelofibrosis -->acute leukemia
Epidemiology	Only 7 cases to date and they are exclusively female: 0 Male/7 Female; found in older patients (Median age 61 years; range: 57-86)
Clinics	Still poorly known

Cytogenetics

Cytogenetics Morphological	Sole abnormality in 5 MDS cases and accompanying changes +8, +9, del(13)(q21) and der(1;7)(q10;p10) in 2 cases that transformed to AML.
Cytogenetics Molecular	By FISH the cytogenetic breakpoint was proximal to AR gene and hence the breakpoint on X chromosome is t(X;20)(q11.2q12;q13.3)
	Fig 2: X-centromere probe DXZ1 (green) hybridized to the normal X and the derivative X (arrows). The androgen receptor (Xq12) AR (red) probe hybridized to derivative 20 and the normal X (arrows). The breakpoint on the X chromosome is proximal to AR. The karyotype is 46, X, t(X;20)(q13;q13.3).ish t(X;20)(q11.2q12;q13.3)(wcpX+,wcp20+,AR?;wcp20+, D20S180?,AR+,wcpX+). The revised breakpoints identified with FISH analysis are highlighted in bold.

External links

Other database	t(X;20)(q13;q13.3)	Mitelman database (CGAP - NCBI)
Other database	t(X;20)(q13;q13.3)	CancerChromosomes (NCBI)

To be noted

	Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.
Case Report	Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 1
Case Report	Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 2
Case Report	Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 3
Case Report	Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 4

Bibliography

Renal cell carcinoma. Cytogenetic analysis of tumors and cell lines.

Zhao WP, Gnarra JR, Liu S, Knutsen T, Linehan WM, Whang-Peng J

Cancer genetics and cytogenetics. 1995 ; 82 (2) : 128-139.

PMID 7664242

A comprehensive karyotypic analysis on Korean hepatocellular carcinoma cell lines by cross-species color banding and comparative genomic hybridization.

Hwang HJ, Kim GJ, Lee GB, Oh JT, Chun YH, Park SH

Cancer genetics and cytogenetics. 2003 ; 141 (2) : 128-137.

PMID 12606130

Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders.

Reddy KS, Richkind K, Ross M, Seirra R

Cancer genetics and cytogenetics. 2005 ; 157 (1) : 70-73.

PMID 15676151

Contributor(s)

Written	01-2005	Kavita S. Reddy, Kathy Richkind

Citation

This paper should be referenced as such :

Reddy KS, Richkind KE . t(X;20)(q13;q13.3). Atlas Genet Cytogenet Oncol Haematol. January 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t0X20q13q13ID1381.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Jul 14 16:33:32 2008

For comments and suggestions or contributions, please contact us