idic(X)(q13)

Clinics and Pathology

Disease	Acute non lymphocytic leukaemia (ANLL), Myelodysplastic syndromes (MDS), Chronic myeloproliferative diseases (MPS)
Phenotype / cell stem origin	M1, M2, M4 ANLL, often with preceding MDS; MDS: often RARS; an early progenitor cell is involved.
Epidemiology	Rare finding; only found in female patients aged 47-86 yrs; as one normal X chromosome seems to be needed, it is not that surprising that male cases are not found
Clinics	no history of toxic exposure
Cytology	Bone marrow iron acumulation, ringed sideroblasts are often found
Prognosis	Variable

Genetics

The gene(s) involved are unknown; breakpoint located within a 450kb region proximal from XIST and containing an inverted repeat

Cytogenetics

Cytogenetics Morphological	Both the 2 centromeres appear to be active
Cytogenetics Molecular	Breakpoint at or near the X inactivation center at Xq13. The XIST (X inactive specific transcript) gene is deleted. In 2 cases studied with BrDU, idic(X) was late-replicating
Additional anomalies	+ idic(X) (or more copies) in 2/3 of cases; other known anomalies in MDS/ANLL; rings

External links

Other database	idic(X)(q13)	Mitelman database (CGAP - NCBI)

Bibliography

Twenty-six patients with hematologic disorders and X chromosome abnormalities. Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts.

Dewald GW, Brecher M, Travis LB, Stupca PJ

Cancer genetics and cytogenetics. 1989 ; 42 (2) : 173-185.

PMID 2790752

Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.

Rack KA, Chelly J, Gibbons RJ, Rider S, Benjamin D, Lafreniˆ©re RG, Oscier D, Hendriks RW, Craig IW, Willard HF

Human molecular genetics. 1994 ; 3 (7) : 1053-1059.

PMID 7981672

Isodicentric (X)(q13) in haematological malignancies: presentation of five new cases, application of fluorescence in situ hybridization (FISH) and review of the literature.

Dierlamm J, Michaux L, Criel A, Wlodarska I, Zeller W, Louwagie A, Michaux JL, Mecucci C, Van den Berghe H

British journal of haematology. 1995 ; 91 (4) : 885-891.

PMID 8547134

Contributor(s)

Written	07-1997	Franck Viguié

Citation

This paper should be referenced as such :

Viguié F . idic(X)(q13). Atlas Genet Cytogenet Oncol Haematol. July 1997 . URL : http://AtlasGeneticsOncology.org/Genes/idicX.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Sep 24 21:06:00 2008

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