2005-01-01   Kathy Richkind , Kavita S. Reddy 

1.Genzyme Genetics, Orange, CA. Kavita.reddy@gmail.com

Clinics and Pathology


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


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)


Still poorly known


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)
Atlas Image
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.


Pubmed IDLast YearTitleAuthors
126061302003A comprehensive karyotypic analysis on Korean hepatocellular carcinoma cell lines by cross-species color banding and comparative genomic hybridization.Hwang HJ et al
156761512005Translocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders.Reddy KS et al
76642421995Renal cell carcinoma. Cytogenetic analysis of tumors and cell lines.Zhao WP et al


Atlas Image
Fig. 1. Partial karyotypes of the translocation t(X;20)(q13;q13.3) for cases 14 (top to bottom; see case report section). Arrows indicate the derivatives 20 and X.


Kathy Richkind ; Kavita S. Reddy


Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1381/t(x;20)(q13;q13-3)