The distribution of 271 chromosomal breakpoints involved in 203 clonal structural non "specific" rearrangements identified in 82 human primary solid tumors of various histologies has been analyzed. According to the "mean + 1 SD" criterion the normalized breakpoint frequency was significantly higher for chromosomes 1p, 3p, 3q, 4q, 6q, 7q, and 11p. Clusters of 3 or more breakpoints were assigned to only 24 of the 329 bands (7%) of the standard karyotype, and 9 high density breakpoint segments have been identified. These results indicate that a nonrandom pattern of chromosomal rearrangements can be extracted from the complex karyotypic changes observed in solid tumors, which suggest that the involved regions play a general role in tumorigenesis.
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Int J Mol Sci
December 2024
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 St. Petersburg, Russia.
In the present study, we aimed to investigate intratumoral karyotype diversity as well as the estrogen/progesterone effect on the cytogenetic profile of uterine leiomyomas (ULs). A total of 15 UL samples obtained from 15 patients were cultured in the media supplemented with estrogen and/or progesterone and without adding hormones. Conventional cytogenetic analysis of culture samples revealed clonal chromosomal abnormalities in 11 out of 15 ULs.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Solitary median maxillary central incisor (SMMCI) syndrome, the mildest form of the holoprosencephaly spectrum, is a rare anomaly characterized by the presence of a single midline central incisor in both the deciduous and permanent dentitions. Affected individuals can present with additional midline defects beyond dental findings. The 22q11.
View Article and Find Full Text PDFPathogens
December 2024
College of Public Health, Shanghai University of Medicine & Health Sciences, Shanghai 201318, China.
This study aimed to explore the interactions among genetic determinants influencing ciprofloxacin resistance in . Treatment with PAβN, an efflux pump inhibitor, resulted in a 4-32-fold reduction in the minimum inhibitory concentration (MIC) across all 18 ciprofloxacin-resistant isolates. Notably, isolates without point mutations reverted from resistance to sensitivity.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
School of Medicine and Dentistry, Faculty of Clinical and Biomedical Sciences, University of Central Lancashire, Preston PR1 2HE, UK.
Cancer is among the leading causes of mortality in developed countries due to limited available therapeutic modalities and high rate of morbidity. Although malignancies might show individual genetic landscapes, recurring aberrations in the neoplastic genome have been identified in the wide range of transformed cells. These include translocations of frequently affected loci of the human genetic material like the Ewing sarcoma breakpoint region 1 () of chromosome 22 that results in malignancies with mesodermal origin.
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