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Written2002-05Thomas SK Wan, Edmond SK Ma
Department of Pathology, University of Hong Kong, Pokfulam Road, Hong Kong, R.P. of China

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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 1160
  der(Y)t(Y;1)(q12;q12) G-banding

Clinics and Pathology

Disease 10 cases of hematological malignancy with der(Y)t(Y;1) had been reported to date. There were 8 cases of myelodysplastic syndrome, 1 case of polycythemia vera and 1 case of myelofibrosis.
Phenotype / cell stem origin Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell
Etiology Presence of der(Y)t(Y;1)(q12;q12) abnormality is relatively restricted to myelodysplastic syndrome.
Prognosis Owing to the small number of cases reported, the prognostic implication of der(Y)t(Y;1) remains to be defined. It is however known to be compatible with long survival of up to 13 Ð 15 years. This aberration occurs as a transient abnormality in one case.


Cytogenetics Morphological found it the unbalanced form + der(Y)t(Y;1)(q12;q12)

Genes involved and Proteins

Note Genes involved are unknown. Whether an increased dosage of gene products located at 1q12-qter or the breakpoint at chromosomal location of Yq12 is important in the pathogenesis of MDS remains to be elucidated. Furthermore, since juxtaposition of heterochromatin and euchromatin has been shown to affect gene function, this may contribute to the pathogenic mechanism underlying der(Y)t(Y;1) as the heterochromatin at Yq12 is involved in the translocation.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


A rosy future for heterochromatin.
Cook KR, Karpen GH
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (12) : 5219-5221.
PMID 8031404
An identical t(Y;1)(q12;q21) in two patients with myelodysplastic syndromes.
Hollings PE, Giles LM, Rosman I, Fitzgerald PH
Cancer genetics and cytogenetics. 1988 ; 34 (2) : 285-293.
PMID 3165704
Translocation (Y;1)(q12;q12) in hematologic malignancies. Report on two new cases, FISH characterization, and review of the literature.
Michaux L, Wlodarska I, Vellosa ER, Verhoef G, Van Orshoven A, Michaux JL, Scheiff JM, Mecucci C, Van den Berghe H
Cancer genetics and cytogenetics. 1996 ; 86 (1) : 35-38.
PMID 8616783
Derivative (y)t(Y;1)(q12;q12),+9 in a patient with polycythemia vera during transition into myelodysplasia.
Raymakers R, Stellink F, Geurts van Kessel A
Cancer genetics and cytogenetics. 1996 ; 88 (1) : 83-85.
PMID 8630987
Translocation (Y;1)(q12;q21) in acute leukemia.
Singh S, Wass J, Devaraj J, Young G, Vincent P
Cancer genetics and cytogenetics. 1993 ; 70 (2) : 136-139.
PMID 8242595
Karyotypic patterns and their clinical significance in polycythemia vera.
Testa JR, Kanofsky JR, Rowley JD, Baron JM, Vardiman JW
American journal of hematology. 1981 ; 11 (1) : 29-45.
PMID 6943932
Transient t(Y;1)(q12;q21) in a patient with Fanconi anemia and myelodysplastic syndrome.
Thompson PW, Standen GR, Geddes AD
Cancer genetics and cytogenetics. 1991 ; 52 (2) : 201-202.
PMID 2021922
Association between der(Y)t(Y;1)(q12;q12) and myelodysplastic syndrome.
Wan TSK, Ma SK, Chan LC, Au WY
Cancer Genet Cytogenet. 2001 ; 124 : 84-85.
der(Y)t(Y;1) is a nonrandom abnormality in myelodysplastic syndrome.
Wei DC, Wan TS, Chan LC, Cheng PN
Cancer genetics and cytogenetics. 1993 ; 70 (2) : 155-156.
PMID 8242602


This paper should be referenced as such :
Wan, TSK ; Ma, ESK
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):233-234.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes TRB

Translocations implicated (Data extracted from papers in the Atlas)


External links

Mitelman databaset(Y;1)(q12;q12)
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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