Hypermetabolism in mice carrying a near-complete human chromosome 21
eLife, 2023 The consequences of aneuploidy have traditionally been studied in cell and animal models in which the extrachromosomal DNA is from the same species. Here, we explore a fundamental question concerning the impact of aneuploidy on systemic metabolism using ...
Dylan C Sarver +11 more
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Functional and molecular effects of chromosome 21 trisomy [PDF]
, 2010 Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
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Chromosomal Abnormalities Associated with Neural Tube Defects (I): Full Aneuploidy
Taiwanese Journal of Obstetrics & Gynecology, 2007 Fetuses with neural tube defects (NTDs) carry a risk of chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with other structural abnormalities, and family history of chromosome aberrations.
Chih-Ping Chen
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Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells
Frontiers in Cellular Neuroscience, 2020 Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem ...
Yohei Hayashi +2 more
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Single umbilical artery: a continuous dilemma and challenge in obstetric management
Clinical and Experimental Obstetrics & Gynecology, 2021 Background: The single umbilical artery (SUA), an entity with almost unknown etiology, is still subject to discussion regarding its clinical significance, especially when it is an isolated discovery (iSUA).
Oana Sorina Tica +5 more
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FISH and karyotype results for other individuals with Trisomy 13, Trisomy 18 and Trisomy 21.
, 2022 (A) Results from GM03330 (Trisomy 13) skin fibroblast and the iPSC clones. (B) Results from GM00526 (Trisomy 13) skin fibroblast and the iPSC clones. (C) Results from GM04616 (Trisomy 21) skin fibroblast and the iPSC clones.
Hirofumi Ohashi (9187894) +6 more
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New osseous soft markers for trisomy 13, 18 and 21 [PDF]
, 2016 INTRODUCTION For ultrasonographic diagnosis of a fetal trisomy so-called "soft markers" (=ultrasonographically detectable morphological variants) are used. Detection of a certain number of them increases the diagnostic certainty of a fetal trisomy. Up
Gembruch, Ulrich +4 more
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Innovative Application of a Microlaryngeal Surgery Tube for difficult Airway Management in a Case of Down’s Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2016 An 11-year-old male child, known case of down’s syndrome with congenital oesophageal stricture was posted for oesophageal dilatation. Preoperative airway assessment revealed a high arched palate, receding mandible and Mallampati Score of 2.
Michell Gulabani +4 more
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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
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Two Cases of Chromosome 27 Trisomy in Horses Detected Using Illumina BeadChip Genotyping
AnimalsAutosomal trisomy, a genetic disorder characterized by the presence of an extra autosome, is a rare but important chromosomal abnormality in horses, often associated with infertility, developmental abnormalities, and reduced life expectancy.
Cliona A. Ryan +6 more
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