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Y Chromosome Material in Turner Syndrome.
Cureus
November 2021
Department of Pediatrics, Division of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, TUR.
Background Turner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis.
View Article and Find Full Text PDFHuman male meiotic sex chromosome inactivation.
PLoS One
June 2012
Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
In mammalian male gametogenesis the sex chromosomes are distinctive in both gene activity and epigenetic strategy. At first meiotic prophase the heteromorphic X and Y chromosomes are placed in a separate chromatin domain called the XY body. In this process, X,Y chromatin becomes highly phosphorylated at S139 of H2AX leading to the repression of gonosomal genes, a process known as meiotic sex chromosome inactivation (MSCI), which has been studied best in mice.
View Article and Find Full Text PDFFibre-fluorescence in situ hybridization unravels apparently seven DAZ genes or pseudogenes clustered within a Y-chromosome region frequently deleted in azoospermic males.
Chromosome Res
September 1998
Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
Using the technique of 'fibre-FISH' (fluorescence in situ hybridization), we describe the direct visualization of seven longer DAZ signal stretches and in addition a maximum of four isolated single DAZ signals on Y-chromatin fibres of four different individuals. These seven longer DAZ signal stretches may represent seven DAZ genes or pseudogenes, whereas the single DAZ signals may represent truncated DAZ genes.
View Article and Find Full Text PDFHigh-resolution fluorescence in situ hybridization of human Y-linked genes on released chromatin.
Chromosome Res
February 1997
Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
Genes within the differential region of the human Y chromosome do not recombine, and therefore the determination of their location depends on physical mapping. Yeast artificial chromosome (YAC) contigs spanning the euchromatic region of the human Y have become a powerful tool for the generation of an overlapping clone map. With this approach, however, complete physical mapping is difficult in Y euchromatic regions that are rich in repetitive sequences.
View Article and Find Full Text PDFApplication of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis.
Am J Med Genet
December 1996
Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota, USA.
Conventional X- and Y-chromatin and fluorescent in situ hybridization (FISH) analysis based on X- and Y-chromosome specific probes were conducted from buccal smear, on 15 normal males, 15 normal females, and 9 cases suspected of sex chromosome anomalies. The proportion of X- and Y-chromatin in normal females and males was 12% +/- 3% and 51.5% +/- 4.
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