Results 1 to 10 of about 55,941 (207)
Novel Co‐Occurrence of Trisomy 21 and Heterozygous CFTR Mutation [PDF]
Respirology Case ReportsThe coexistence of trisomy 21 and cystic fibrosis (CF) is extremely rare, with fewer than 10 reported cases, all involving homozygous CFTR mutations. However, the impact of a heterozygous CFTR mutation in a patient with trisomy 21 remains unexplored.
Majd Oweidat +3 more
doaj +2 more sources
Arciform eruptions of trisomy 21
Indian Journal of Dermatology, 2015 Nikam Balkrishna +3 more
doaj +3 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2023 Objective: We present mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy (UPD) 21 and postnatal decrease of the trisomy 21 cell line.
Chih-Ping Chen +10 more
doaj +1 more source
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]
PLoS ONE, 2017 We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom +18 more
doaj +1 more source
Trisomy 21 and the Brain [PDF]
Journal of Neuropathology & Experimental Neurology, 2004 In fetuses with Down syndrome, neurons fail to show normal dendritic development, yielding a "tree in winter" appearance. This developmental failure is thought to result in mental retardation. In adults with Down syndrome, neuronal loss is dramatic and neurofibrillary and neuritic Abeta plaque pathologies are consistent with Alzheimer disease.
Robert E, Mrak, W Sue T, Griffin
openaire +2 more sources
Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities
Фундаментальная и клиническая медицина, 2022 Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov +4 more
doaj +1 more source
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Educational Items on Trisomy 21.
Huret, JL, Sinet, PM
+5 more sources
PLoS ONE, 2023 Objective To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screening [FSTCS]) in predicting offspring with ...
Yiming Chen +6 more
doaj +2 more sources
Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand
PLoS ONE, 2023 This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT)
Preechaya Wongkrajang +6 more
doaj +2 more sources
Taiwanese Journal of Obstetrics & Gynecology, 2020 Objective: We present prenatal diagnosis of maternal uniparental disomy (UPD) 5 by amniocentesis associated with confined placental mosaicism (CPM) for trisomy 5 and fetal trisomy 21 in a pregnancy.
Chih-Ping Chen +8 more
doaj +1 more source