Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Written1997-07Franck Viguié
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
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 1043
  idic(X)(q13) G- banding and FISH; top - Courtesy Melanie Zenger and Claudia Haferlach; bottom - Courtesy Jean Luc Lai.

Clinics and Pathology

Disease Acute myeloi leukaemia (AML), Myelodysplastic syndromes (MDS), Chronic myeloproliferative diseases (MPS)
Phenotype / cell stem origin M1, M2, M4 AML, 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


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


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/AML; rings


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
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
Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemia.
Rack KA, Chelly J, Gibbons RJ, Rider S, Benjamin D, Lafreniére RG, Oscier D, Hendriks RW, Craig IW, Willard HF
Human molecular genetics. 1994 ; 3 (7) : 1053-1059.
PMID 7981672


This paper should be referenced as such :
Viguiï_, F
Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):9-10.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaseidic(X)(q13)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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

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