Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report
Egyptian Journal of Medical Human Genetics, 2020 Background Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relatively high prevalence in the general
Mariya Tsvetkova +5 more
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Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present mosaic trisomy 21 at amniocentesis associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.
Chih-Ping Chen +11 more
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Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]
, 2018 Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav +13 more
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Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
, 2014 We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
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On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A. +6 more
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Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]
, 2012 Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W +14 more
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QRT-PCR evaluation of selected microRNAs’ expressions in the amniotic fluid and chorionic villus samples from Down syndrome pregnancies [PDF]
Research and Clinical Medicine, 2016 INTRODUCTION Trisomy 21, responsible for 95% of Down syndrome cases, is the most common viable aneuploidy. Prenatal diagnosis is based on genetic tests conducted on samples obtained by invasive procedures (1, 2, 3).
Vizitiu AC1, +7 more
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American Journal of Perinatology Reports, 2023 Down syndrome (DS, trisomy 21) with an extra copy of chromosome 21 is one of the most common aneuploidies in humans. Jacobs syndrome or XYY syndrome (trisomy XYY) with an extra copy of sex chromosome Y is a rare sex chromosome trisomy in males.
Omoloro Adeleke +4 more
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Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]
, 2016 Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann +4 more
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Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease
Life, 2022 Fetal congenital heart disease (CHD) is often associated with chromosomal abnormalities. Our primary aim was to assess stillbirth and neonatal mortality rates for pregnancies complicated by trisomies 13, 18, and 21 in the presence of CHD, from a single ...
Stephanie Springer +8 more
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