Aim: To investigate parental origins and cell stage errors of a double nondisjunction in a fetus.
Method: For the determination of the most common chromosome anomalies, quantitative fluorescent polymerase chain reaction method using short tandem repeat (STR) DNA markers was applied to a fetus with abnormal ultrasonographic findings. Parental origin and cell stage errors of the trisomies were inferred by comparing the inherited STR alleles. Conventional cytogenetic technique was also applied for the confirmation of the aneuploidies.
Results: A double nondisjunction including chromosomes 21 and X (48,XXX,+21) was detected prenatally in the fetus. The origin of both chromosomes was maternal, and the errors were in meiosis I for 21 and meiosis II for X. Molecular results were concordant with cytogenetic results.
Conclusion: Molecular techniques could be useful for the pre- and postnatal diagnosis of the common aneuploidies and determining its parental origin. This kind of study will improve knowledge about the mechanisms of nondisjunction and enable appropriate and rapid genetic counseling.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1089/gtmb.2008.0054 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Niche shift and localized competitive dynamics influence the persistence and distribution of polyploids in the genus Achillea (Asteraceae).
Ann Bot
January 2025
Key Laboratory of Biodiversity Science and Ecological Engineering of the Ministry of Education, College of Life Sciences, Beijing Normal University, Beijing, China.
Background And Aims: Competition with sympatric diploid progenitor(s) hinders the persistence of polyploids. The hypothesis that polyploids escape from competition through niche shifts has been widely tested; however, niche escape is unlikely to completely avoid competition. Given species growing in less favorable environments likely have weaker competitive abilities, we hypothesize that polyploid populations tend to persist in areas where their progenitors with relatively low habitat suitability.
View Article and Find Full Text PDFSurgical treatment of anomalous aortic origin of the coronary artery in paediatric patients: a Chinese single-center experience.
BMC Surg
January 2025
Department of Cardiothoracic Surgery, Heart Center, School of Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University, Shanghai, China.
Purpose: An anomalous aortic origin of the coronary artery (AAOCA) is a rare congenital heart disease. Some high-risk anatomical structures are at risk of inducing cardiogenic shock or even sudden death. This article summarizes our surgical experience with AAOCA in paediatric patients.
View Article and Find Full Text PDFDirected evolution of diacylglycerol acyltransferases 2 promotes lipids and triglyceride accumulation.
Plant Mol Biol
January 2025
College of Life Sciences, Northwest A & F University, Xi'an, 710000, China.
Triacylglycerol (TAG) is a major component of plant-neutral lipids. Diacylglycerol acyltransferase 2 (DGAT2) plays an important role in plant oil accumulation by catalyzing the final step of the Kennedy pathway. In this study, ten DGAT2 sequences were originating from different oil crops into the TAG-deficient yeast strain H1246, to compare their enzyme activity of oil synthesis and filter out potential amino acid residue sites for directed evolution.
View Article and Find Full Text PDFRepeatome landscapes and cytogenetics of hortensias provide a framework to trace Hydrangea evolution and domestication.
Ann Bot
January 2025
Graduate School of Human Development and Environment, Kobe University, Nada-ku, Kobe, 657-8501, Japan.
Background And Aims: Ornamental hortensias are bred from a reservoir of over 200 species in the genus Hydrangea s.l. (Hydrangeaceae), and are valued in gardens, households and landscapes across the globe.
View Article and Find Full Text PDFReligious Coping in Parents of Children with Down Syndrome: A Systematic Review of the Literature.
J Relig Health
January 2025
Divisions of Pediatric Neurology and Genetics, and Developmental-Behavioral Pediatrics Department of Pediatrics, Faculty of Medicine, Necmettin Erbakan University, 42090, Meram, Konya, Türkiye.
Having a child with Down syndrome (DS) is stressful for families. Social, physical, economic and emotional difficulties are the most challenging stressors for parents of children with DS. Therefore, parents who have children with DS have used various types of coping strategies.
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!