Chromosomal mosaicism is defined as the presence of two or more different cell lines in an organism that originate from the same embryo. Trisomy of chromosome 5 is one of the most severe forms of autosomal trisomy and only seven cases of mosaic trisomy 5 have been reported to date. Mosaicism at prenatal level constitutes a challenge in genetic counseling, particularly in the case of mosaic trisomy 5, due to its low incidence. We report the case of a girl with a prenatal diagnosis of mosaic trisomy 5. The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848760 | PMC |
| http://dx.doi.org/10.1055/s-0040-1721076 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.
Prenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
Total cell N-glycosylation is altered during differentiation of induced pluripotent stem cells to neural stem cells and is disturbed by trisomy 21.
BBA Adv
December 2024
Genos Glycoscience Research Laboratory, 10000 Zagreb, Croatia.
Down syndrome (DS), a genetic condition caused by trisomy 21 (T21), manifests various neurological symptoms, including intellectual disability, early neurodegeneration, and early-onset dementia. N-glycosylation is a protein modification that plays a critical role in numerous neurobiological processes and whose dysregulation is associated with a range of neurological disorders. However, whether N-glycosylation of neural glycoproteins is affected in DS has not been studied.
View Article and Find Full Text PDFEmbryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study.
Int J Fertil Steril
January 2025
Reproductive Immunoendocrinology Division, Department of Obstetrics and Gynecology, Faculty of Medicine Universitas Indonesia - dr. Cipto Mangunkusumo General Hospital, Jakarta, Indonesia.
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalence and inherent unpredictability, leading to variations in embryo mosaic rates across different centers. This research endeavors to assess the prevalence of mosaicism and its characteristics within the scope of our preimplantation genetic testing-A (PGT-A) services in Indonesia. Specifically focusing on our center's experience since 2020, this study aims to elucidate mosaic rates among embryos in our care.
View Article and Find Full Text PDFInternalizing Psychiatric Symptoms in People With Mosaicism for Trisomy 21.
Am J Med Genet B Neuropsychiatr Genet
January 2025
Department of Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.
People with mosaicism for trisomy 21 have been shown to exhibit many of the same phenotypic traits present in people with non-mosaic Down syndrome, but with varying symptom severity. However, the behavioral phenotype of people with mosaic Down syndrome (mDS) has not been well characterized. This study aimed to examine the prevalence of self-report and caregiver-report symptoms of depression and anxiety among a sample of 62 participants with mDS aged 12-46 and assess their association with the percentage of trisomy 21 in blood and/or buccal mucosa cells.
View Article and Find Full Text PDFChromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases.
Cells
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, Mendeleevskaya Line 3, 199034 Saint Petersburg, Russia.
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from 23 to 44. Cytogenetic data were obtained by conventional karyotyping of 7118 miscarriages in women with naturally conceived pregnancies.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!