Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q.

doi:10.1046/j.1365-2141.1998.00924.x

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Article

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q.

British journal of haematology - 1 Oct 1998

Cavani S, Perfumo C, Argusti A, Pierluigi M, Perroni L, Schmiegelow K, Petersen M B, Cotter F E, Strigini P, Dagna-Bricarelli F, Nizetić D

Abstract excerpt

Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-...

Topics

Chromosomes, Human, Pair 21
Down Syndrome
Genetic Predisposition to Disease
Homozygote
Humans
Leukemia, Myeloid, Acute
Pedigree
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Risk Factors

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PMID: 9792310
DOI: 10.1046/j.1365-2141.1998.00924.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9792310-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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