Abstract

PARRA-BALTAZAR, Isabel Mónica et al. Mosaic Down syndrome and acute lymphoblastic B cell-leukemia. Case report. Iatreia [online]. 2016, vol.29, n.4, pp.498-502. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v29n4a12.

Down syndrome (DS) or trisomy 21 is a constitutional chromosomal abnormality, which may be mosaic in 1 % to 4 % of cases. DS mosaic diagnosis is difficult because most patients have a normal phenotype and show no significant clinical abnormalities. Patients with DS have a higher risk of developing acute leukemia such as acute lymphoblastic leukemia (ALL). We report the case of a 19-year old woman with mosaic trisomy 21 and ALL.

Keywords : Acute Lymphoblastic Leukemia; Down Syndrome; Mosaicism; Trisomy 21.

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