Results 31 to 40 of about 81,066 (200)
International Journal of Endorsing Health Science Research, 2022 Background: Chromosomal aneuploidy due to meiotic non-disjunction is among the most significant and common causes of miscarriages in humans. The present study was conducted to investigate the presence of fetal trisomy 13, 18, and 21 in Pakistani ...
Amina Safdar +3 more
doaj
Taiwanese Journal of Obstetrics & Gynecology, 2016 Objective: We present a prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes.
Chih-Ping Chen +9 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression [PDF]
, 2018 Down syndrome (DS, trisomy 21) is associated with developmental abnormalities and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes, we performed paired exogenous spike-in normalized RNA and chromatin ...
Bustin, Michael +18 more
core +1 more source
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
doaj +1 more source
Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]
, 2011 Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe +3 more
core +1 more source
Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report [PDF]
, 2009 Introduction Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18.
Kotb A Metwalley +2 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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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
doaj +1 more source