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Chromosomal rDNA Distribution Patterns in Clonal Triploid Hybrids (Teleostei, Cobitidae): Insights into Parental Genomic Contributions.
Genes (Basel)
January 2025
Department of Zoology, Faculty of Biology and Biotechnology, University of Warmia and Mazury in Olsztyn, 10-719 Olsztyn, Poland.
Interspecific hybridization between relative species (with a diploid genome designated as TT), (EE) and (NN) and the successive polyploidization with transitions from sexuality to asexuality experienced by triploid hybrids likely influence their chromosomal rearrangements, including rearrangements of ribosomal DNA (rDNA) distribution patterns. Previously, we documented distinct karyotypic differences: exhibited bi-armed chromosomes while showed uni-armed chromosomes with rDNA-positive hybridization signals, respectively. In this study, fluorescence in situ hybridization (FISH) with rDNA and rDNA probes was used to analyze and compare chromosomal distribution patterns of rDNAs in clonally reproduced triploid hybrids of different genomic constitutions ETT, ETN, EEN and EET (referred to using acronyms denoting the haploid genomes of their parent species), and their parental species.
View Article and Find Full Text PDFAssessment of Long-Term Cultivated In Vitro Willow Clones according to Chromosomal Analysis.
Dokl Biochem Biophys
January 2025
Voronezh State University, Voronezh, Russia.
Creation and long-term in vitro maintenance of valuable genotype collection is one of the modern approach to conservation of valuable gene pool of woody plants. However, during prolonged cultivation, genetic variability of cells and tissues may accumulate and lead to the loss of valuable characteristics of parental plants. It is therefore important to assess the genetic (including cytogenetic) stability of collection clones.
View Article and Find Full Text PDFDetection of inversion with breakpoints in causing MPS VI by whole-genome sequencing: lessons learned and best practices.
Front Genet
January 2025
Genetics and Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Introduction: Mucopolysaccharidosis type VI (MPSVI), an autosomal recessive lysosomal storage disorder caused by pathogenic variants in gene. Usually, whole exome sequencing (WES) can identify these variants, and if WES failed to detect causative variants, whole-genome sequencing (WGS) may be considered to investigate deep intronic variations and structural alterations in patients.
Methods: Whole-exome sequencing (WES) and whole genome sequencing (WGS) were performed in a Chinese family having a boy with suspected diagnosis of MPS with macrocephaly, coarse facial features, broad forehead, thick lips, frontal bossing, craniosynostosis, blue spots, frequent upper respiratory infections, inguinal hernia, and dysostosis multiplex.
Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing.
Sci Rep
January 2025
Reproductive Medicine Center, Jiangxi Maternal and Child Health Hospital, 318 Bayi Avenue, Nanchang, 330006, China.
To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, including chromosome karyotype analysis, whole exome sequencing, nanopore sequencing, PCR amplification, and Sanger sequencing. The results of G-binding karyotyping, CGG repeats for FMR1, GGC repeats for NOTCH2NCL, and trio-whole-exome sequencing were negative for the proband and his parents.
View Article and Find Full Text PDFEvaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
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