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Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia.

Abstract：

:In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10; q10)c, have ∼2,700 increased risk of developing ALL with iAMP21 (intrachromosomal amplification of chromosome 21). In these patients, chromosome 15 as well as chromosome 21 is involved in the formation of iAMP21, referred to here as der(21)(15;21). Individuals with constitutional ring chromosomes involving chromosome 21, r(21)c, are also predisposed to iAMP21-ALL, involving the same series of mutational processes as seen in sporadic- and der(21)(15;21)-iAMP21 ALL. Evidence is accumulating that the dicentric nature of the Robertsonian and ring chromosome is the initiating factor in the formation of the complex iAMP21 structure. Unravelling these intriguing predispositions to iAMP21-ALL may provide insight into how other complex rearrangements arise in cancer.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Harrison CJ,Schwab C

doi

10.1016/j.ejmg.2016.01.006

subject

Has Abstract

pub_date

2016-03-01 00:00:00

pages

162-5

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30006-4

journal_volume

59

pub_type

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