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From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.
J Appl Genet
January 2025
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used.
View Article and Find Full Text PDFImaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia.
Cells
January 2025
School of Biomedical Sciences, The University of Western Australia, Crawley, WA 6009, Australia.
Acute lymphoblastic leukaemia is the most common childhood malignancy that remains a leading cause of death in childhood. It may be characterised by multiple known recurrent genetic aberrations that inform prognosis, the most common being hyperdiploidy and t(12;21) . We aimed to assess the applicability of a new imaging flow cytometry methodology that incorporates cell morphology, immunophenotype, and fluorescence in situ hybridisation (FISH) to identify aneuploidy of chromosomes 4 and 21 and the translocation .
View Article and Find Full Text PDFClinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDFComparison of chromosomal microarray and karyotyping in prenatal diagnosis using 491 amniotic fluid samples.
Medicine (Baltimore)
December 2024
Shangrao City Maternal and Child Health Hospital, Shangrao, China.
This study was aimed to investigate the performance of chromosomal microarray analysis (CMA) in prenatal diagnosis compared with traditional karyotyping analysis. Both CMA and karyotyping analyses were performed to detect the karyotypes in the amniotic fluid of 491 pregnant women who got prenatal diagnosis at the Center of Prenatal Diagnosis of Shangrao (China) during January 2019 to April 2021. After excluding 2 samples in the CMA analysis and 2 samples in the karyotyping analysis which were failed in detection, the remaining 487 amniotic fluid samples were detected.
View Article and Find Full Text PDFAn infant with trisomy 9 and partial trisomy 12 derived from maternal balanced translocation: A case report and literature review.
J Int Med Res
November 2024
Department of Laboratory Medicine, Wuzhou Gongren Hospital, 1Gaodi Road, Wuzhou, 543001, Guangxi, China.
We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis using the GTG-banding technique. The mother was a carrier of a balanced chromosomal translocation of 46, XX, t(9;12)(q13;p11.
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