X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA
Written2005-01Kavita S. Reddy, Kathy Richkind
Genzyme Genetics, Orange, CA. Kavita.reddy@gmail.com

(Note : for Links provided by Atlas : click)

1. Identity

ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1381
  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.

2. 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

3. 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.

4. To be noted

5. Bibliography

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
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

6. Citation

This paper should be referenced as such :
Reddy, KS ; Richkind, KE
Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):34-35.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0X20q13q13ID1381.html

7. Translocations implicated (Data extracted from papers in the Atlas)


8. External links

Mitelman databaset(X;20)(q13;q13.3) [Case List]    t(X;20)(q13;q13.3) [Transloc-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 28 16:19:09 CET 2018

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