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Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.
Prenat Diagn
December 2024
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.
Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.
View Article and Find Full Text PDFConcomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.
Clin Genet
December 2024
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre- and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co-occur with trisomy 14 mosaicism. To date, only 11 live-born cases have been reported in the literature.
View Article and Find Full Text PDFNeuropathology of trisomy 21 mosaicism in a case with early-onset dementia.
Alzheimers Dement
December 2024
Department of Pathology and Laboratory Medicine, University of California, Irvine, Irvine, California, USA.
Introduction: This study investigated the impact of trisomy 21 mosaicism (mT21) on Alzheimer's disease (AD) neuropathology in a well-characterized clinical case described by Ringman et al.
Methods: We describe AD neuropathology in mT21 including amyloid beta, phosphorylated tau, astrogliosis, microgliosis, α-synuclein, and TAR DNA-binding protein 43 (TDP-43) in cerebral cortex, hippocampal subregions, and amygdala using immunohistochemistry.
Results: We observed high AD neuropathologic change with a score of A3B3C3.
Constitutional Mosaic Pericentromeric Trisomy 8 in a Female Patient With Aplastic Anemia.
Am J Med Genet A
December 2024
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the risks for cytopenia and myeloid malignancies. Duplications near chromosome 8 centromere are associated with developmental delays, autism, and trisomy 8p11.
View Article and Find Full Text PDFArticle Synopsis
- Chromosomal trisomy syndrome can cause various issues, including intellectual disabilities, and partial trisomy of distal 17q is a rare variant with similar problems like growth deficits and facial differences.
- This study describes three patients from two families with terminal trisomy 17q, including a child with a mosaic duplication on chromosome 17 and dizygotic twins with both a deletion on chromosome 15 and a duplication on chromosome 17.
- The research highlights the genetic mechanisms of these abnormalities and offers valuable insights for diagnosing partial trisomy 17q, aiding in understanding genotype-phenotype links for better genetic counseling.
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