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

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

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

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)
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.

Bibliography

Pubmed IDLast YearTitleAuthors

Summary

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.

Citation

Kathy Richkind ; Kavita S. Reddy

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

Atlas Genet Cytogenet Oncol Haematol. 2005-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1381/js/js/web-card-_common.js