We report on 2 patients with isochromosome 21q [i(21q)] or translocation 21q21q [t(21q21q)] in myeloid disorders. Of 18 available cases of i(21q) or t(21q21q), 15 were found in myeloid malignancies, often secondary to a previous carcinogen exposure. Complex karyotypes were found in most cases. Four cases presented with i(21q) or t(21q21q) as the sole anomaly, and this might represent a specific entity.
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http://dx.doi.org/10.1159/000204815 | DOI Listing |
J Assoc Genet Technol
January 2022
The International Circle of Genetics Studies, Los Angeles, CA.
Acute myeloid leukemia (AML) is a heterogeneous disease, characterized by clonal expansion of undifferentiated myeloid precursors, leading to alterations in hematopoiesis and bone marrow failure. Characteristic chromosomal abnormalities in AML are translocations t(8;21), inv(16), t(15;17), t(9;22), as well as mutations of genes that regulate proliferation and survival (FLT 3, PTPN 11, ETV 6/PDGFB), or genes responsible for differentiation and apoptosis (RUNX-1/RUNX1T1, PML/RARA, KMT2A, CEBPA and CBFB). Amplification of RUNX1 is a rare event in AML.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
March 2022
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Objective: We present detection of paternal origin of fetal de novo rea(21q;21q) Down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result.
Case Report: A 26-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of an abnormal first-trimester screening result of 1/139 risk of Down syndrome calculated by 3.109 multiples of the median (MoM) of maternal serum free β-hCG and 0.
PLoS One
March 2019
Platform Degenerative Diseases, German Primate Center- Leibniz Institute for Primate Research, Göttingen, Germany.
Following a certain type-specific number of mitotic divisions, terminally differentiated cells undergo proliferative senescence, thwarting efforts to expand different cell populations in vitro for the needs of scientific research or medical therapies. The primary cause of this phenomenon is the progressive shortening of the telomeres and the subsequent activation of cell cycle control pathways leading to a block of cell proliferation. Restoration of telomere length by transgenic expression of telomerase reverse transcriptase (TERT) usually results in bypassing of the replicative senescence and ultimately in cell immortalization.
View Article and Find Full Text PDFEur J Hum Genet
October 2018
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offering cfDNA prenatal screening, 9 false-negative results were documented in 646 confirmed cases of trisomy 21; a false-negative rate of 1.
View Article and Find Full Text PDFClin Case Rep
October 2015
Service de Cytogénétique, Centre Hospitalier Intercommunal de Poissy Saint-Germain-en-Laye 10 rue du Champ Gaillard, F-78303, Poissy, France ; UPCG, UFR des Sciences de la Santé Simone Veil 2 avenue de la source de la Bièvre, F-78180, Montigny le Bretonneux, France.
We report a rare case of recurrent trisomy 21 caused by an isochromosome 21q and what is very likely to be maternal germ-line cell mosaicism. Over 90% of cases of rob(21;21) reported in the literature are due to an isochromosome 21q, with a risk of recurrence of more than 10%.
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