Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

Aneuploidy, a genomic alternation characterized by deviations in the copy number of
chromosomes, affects organisms from early development through to aging. Although it is a …

Haematopoiesis in the bone marrow (BM) maintains blood and immune cell production
throughout postnatal life. Haematopoiesis first emerges in human BM at 11–12 weeks after …

Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition
to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a …

Recognition that germline mutations can predispose individuals to blood cancers, often
presenting as secondary leukemias, has largely been driven in the last 20 years by studies …

Acute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal
evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy …

Structural and numerical alterations of chromosome 21 are extremely common in
hematological malignancies. While the functional impact of chimeric transcripts from fused …

Down syndrome (DS) is a genetic disorder caused by an extra copy of chromosome 21,
resulting in cognitive impairment, physical abnormalities, and an increased risk of age …

We previously demonstrated that an integrated XIST transgene can broadly repress one
chromosome 21 in Down syndrome (DS) pluripotent cells. Here we address whether trisomy …

Abstract Gain of chromosome 21 (Hsa21) is among the most frequent aneuploidies in
leukemia. However, it remains unclear how partial or complete amplifications of Hsa21 …