Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4771849 | PMC |
| http://dx.doi.org/10.1002/ccr3.501 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Lamivudine modulates the expression of neurological impairment-related genes and LINE-1 retrotransposons in brain tissues of a Down syndrome mouse model.
Front Aging Neurosci
July 2024
IrsiCaixa, Badalona, Spain.
Elevated activity of retrotransposons is increasingly recognized to be implicated in a wide range of neurodegenerative and neurodevelopmental diseases, including Down syndrome (DS), which is the most common chromosomal condition causing intellectual disability globally. Previous research by our group has revealed that treatment with lamivudine, a reverse transcriptase inhibitor, improved neurobehavioral phenotypes and completely rescued hippocampal-dependent recognition memory in a DS mouse model, Ts65Dn. We hypothesized that retrotransposition rates would increase in the Ts65Dn mouse model, and lamivudine could block retrotransposons.
View Article and Find Full Text PDFClinical features associated with maternal uniparental disomy for chromosome 6.
Mol Cytogenet
July 2024
Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310052, China.
Article Synopsis
- Maternal uniparental disomy for chromosome 6 (upd) is linked to intrauterine growth restriction (IUGR), but the exact clinical details are not well defined.
- Two new cases were analyzed, one showing mixed isodisomy and heterodisomy patterns, and the other having a homozygous mutation in SCUBE3 along with maternal upd.
- Of the 21 documented cases of maternal upd, 85.7% experienced IUGR, highlighting a significant correlation between this genetic condition and growth issues in utero.
Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations.
Genes (Basel)
April 2024
Department of Psychiatry and Behavioral Sciences, University of Minnesota Medical School and VA Health Care System, One Veterans Drive, Minneapolis, MN 55417, USA.
Down syndrome (DS) is the most common form of inherited intellectual disability caused by trisomy of chromosome 21, presenting with intellectual impairment, craniofacial abnormalities, cardiac defects, and gastrointestinal disorders. The Ts65Dn mouse model replicates many abnormalities of DS. We hypothesized that investigation of the cerebral cortex of fluoxetine-treated trisomic mice may provide proteomic signatures that identify therapeutic targets for DS.
View Article and Find Full Text PDF[Genetic origin analysis of regions of homozygosity in three cases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2024
Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, Jiangsu 210008, China.
Objective: To explore the genetic characteristics of three fetuses with regions of homozygosity (ROH).
Methods: Three fetuses with ROH diagnosed at Nanjing Drum Tower Hospital on December 2, 2020, March 19, 2021, and May 27, 2022, respectively were selected as the study subjects. Clinical data of the fetuses were collected.
APP antisense oligonucleotides reduce amyloid-β aggregation and rescue endolysosomal dysfunction in Alzheimer's disease.
Brain
July 2024
Human Stem Cells and Neurodegeneration Laboratory, The Francis Crick Institute, London NW1 1AT, UK.
APP gene dosage is strongly associated with Alzheimer's disease (AD) pathogenesis. Genomic duplication of the APP locus leads to autosomal dominant early-onset AD. Individuals with Down syndrome (trisomy of chromosome 21) harbour three copies of the APP gene and invariably develop progressive AD with highly characteristic neuropathological features.
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!