Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Although data on T18 are widespread, there is a lack of knowledge on mosaic trisomy 18 (mT18). A current review of mT18 symptomatology, long-term follow-up, and potential health risks is lacking for health care professionals. Our paper addresses these, emphasizing the importance of regular tumor screening as a key message for mT18 patient follow-up. We also present the case of a female patient with mT18 who presented with diaphragmatic relaxation and cyclic vomiting syndrome (CVS), which had previously not been reported in this genetic condition. On further investigating the etiology of CVS, we revealed a novel mitochondrial mutation in the gene in heteroplasmic form. Based on the literature, we hypothesize that the mitochondrial mutation together with mT18 could result in CVS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11534437 | PMC |
| http://dx.doi.org/10.1055/s-0042-1757621 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.
JAMA Netw Open
September 2025
Department of Epidemiology, University of Texas Health Science Center at Houston School of Public Health, Houston.
Importance: Trisomy 13 (T13) and trisomy 18 (T18) are chromosomal abnormalities with high mortality rates in the first year of life. Understanding differences in long-term survival between children with full vs mosaic or partial trisomy is crucial for prognosis and health care planning.
Objective: To examine the differences in 10-year survival between children with full T13 and T18 vs those with mosaic or partial trisomy.
Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases.
Front Mol Biosci
August 2025
Department of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, China.
Background: Non-invasive prenatal testing (NIPT) has demonstrated robust performance in detecting common trisomies and copy number variations. However, its clinical utility for rare chromosomal abnormalities (RCAs) remains controversial due to low positive predictive value (PPV).
Methods: This study retrospectively analyzed the data of 94,125 cases that underwent NIPT at Ganzhou Maternal and Child Health Hospital in China.
Cell-type-specific enrichment of somatic aneuploidy in the mammalian brain.
Neuron
September 2025
Genomic Analysis Laboratory, Salk Institute, La Jolla, CA 92037, USA; Howard Hughes Medical Institute, Salk Institute, La Jolla, CA 92037, USA.
Somatic mutations alter the genomes of a subset of an individual's brain cells, impacting gene regulation and contributing to disease processes. Mosaic single-nucleotide variants have been characterized with single-cell resolution in the brain, but we have limited information about large-scale structural variation such as whole-chromosome duplication or loss. We used a dataset of over 415,000 single-cell DNA methylation and chromatin conformation profiles from the adult mouse brain to comprehensively identify and characterize aneuploid cells.
View Article and Find Full Text PDFPrenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.
BMC Pregnancy Childbirth
September 2025
Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.
Background: The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Methods: Thirty-four prenatal samples with chromosomal mosaicism diagnosed by chromosomal microarray analysis with single nucleotide polymorphism (CMA/SNP) were included and subsequently subjected to chromosome analysis by medium-coverage whole-genome sequencing (CMA-seq) for back-to-back comparison. The results of karyotyping or fluorescence in situ hybridization (FISH) were reviewed for additional validation.
Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.
Am J Case Rep
August 2025
EcoSense Laboratory and Diagnostic Center, Yerevan, Armenia.
BACKGROUND Down syndrome, or trisomy 21, is one of the most common chromosomal disorders associated with intellectual disability. Prenatal screening is a proactive approach to identify fetuses with common chromosomal abnormalities. Mosaicism is one of the causes of false-negative results in prenatal screening for Down syndrome.
View Article and Find Full Text PDF