An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015926 | PMC |
| http://dx.doi.org/10.1136/jmg.29.4.253 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFGenetics of Tourette Syndrome.
Psychiatr Clin North Am
March 2025
Department of Psychiatry and Yale Child Study Center, Yale School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA. Electronic address:
This review explores the genetic basis of Tourette syndrome (TS), a complex neuropsychiatric disorder characterized by motor and vocal tics. Family, twin, and molecular genetic studies provide strong evidence for a genetic component in TS, with heritability estimates ranging from 50% to 80%. The genetic architecture of TS is complex, involving both common variants with small effects and rare variants with larger effects.
View Article and Find Full Text PDFQuantitative chromatin protein dynamics during replication origin firing in human cells.
Mol Cell Proteomics
January 2025
Center for Chromosome Stability, Institute for Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Accurate genome duplication requires a tightly regulated DNA replication program, which relies on the fine regulation of origin firing. While the molecular steps involved in origin firing have been determined predominantly in budding yeast, the complexity of this process in human cells has yet to be fully elucidated. Here, we describe a straightforward proteomics approach to systematically analyse protein recruitment to the chromatin during induced origin firing in human cells.
View Article and Find Full Text PDFDistinct checkpoint and homolog biorientation pathways regulate meiosis I in Drosophila oocytes.
PLoS Genet
January 2025
Waksman Institute, Rutgers, the State University of New Jersey, Piscataway, New Jersey, United States of America.
Mitosis and meiosis have two mechanisms for regulating the accuracy of chromosome segregation: error correction and the spindle assembly checkpoint (SAC). We have investigated the function of several checkpoint proteins in meiosis I of Drosophila oocytes. Increased localization of several SAC proteins was found upon depolymerization of microtubules by colchicine.
View Article and Find Full Text PDFThe correlation between blastocyst morphological parameters and chromosomal euploidy, aneuploidy and other chromosomal abnormalities following pre-implantation genetic testing-a single center retrospective study.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, McGill University, 845 Rue Sherbrooke, O, Montreal, QC, 3HA 0G4, Canada.
Purpose: To examine the association between blastocyst morphology and chromosomal status utilizing pre-implantation genetic testing for aneuploidy (PGT-A).
Methods: A single-center retrospective cohort study including 169 in-vitro fertilization cycles that underwent PGT-A using Next Generation Sequencing (2017-2022). Blastocysts were morphologically scored based on Gardner and Schoolcraft's criteria.
Want 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!