• As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Århus over a 13-year period. (springer.com)
  • The X chromosome resembles a large autosomal chromosome with a long and a short arm. (britannica.com)
  • At this threshold, ≥18% of cells in affected participants would be expected to have nullisomy Y. For calculating the fraction of cells affected with nullisomy Y we implemented a novel approach, using B-allele frequency (BAF)-values in the pseudo-autosomal region 1 (PAR1) on chromosomes X/Y from SNP-array data, which is explained in Supplementary Figure 3 . (pubmedcentralcanada.ca)
  • The 46,XX male is caused by translocation of Y material (including the sex-determining region [SRY]) to the X chromosome during paternal meiosis. (medscape.com)
  • This path to maleness or femaleness originates at the moment of meiosis , when a cell divides to produce gametes , or sex cells having half the normal number of chromosomes. (britannica.com)
  • Although the X and Y chromosomes are very different in size and do not exchange regions during meiosis, they do share two small regions called 'pseudoautosomal regions' at which they pair during meiosis. (scienceclarified.com)
  • Fig.1B Fluorescence in situ hybridization with arm specific probes for 20p and 1q (Kreatech Diagnostic, Leica) demonstrating the normal and derivative chromosome 20 (Lubomir Mitev, Lilya Grachlyova, Aselina Asenova). (atlasgeneticsoncology.org)
  • 1998 demonstrated that the pericentromeric 1qh decondensation induced by hypomethylation initiates the creation of a triradial chromosomes in myeloma cells composed of 1p and two copies of 1q (one of them is an extra copy) joined by 1q12 region and proposed that a partial endoreduplication of 1q as result of the 1qh decondensation possibly generated the extra copies of 1q in MM cases with jumping translocations. (atlasgeneticsoncology.org)
  • Therapy previously available to them included fetal sex determination and selective abortion of all males, of which on average 50% would not have been affected. (glowm.com)
  • To obtain metaphase chromosomes from polar bodies and cleavage-stage human embryos has been problematic, because these cells could not be cultured for extended periods of time ( i.e. 2 to 3 days) and few cells were suitable for karyotyping. (glowm.com)
  • Cells are arrested in metaphase by preventing spindle fiber formation, fixed in an acidified solution, and then treated to enzymatic digests ( e.g. trypsin) so that chromosomes could be banded and that numeric and structural chromosome aberrations detected. (glowm.com)
  • When metaphase chromosomes were obtained, the chromosomes were short and difficult to band. (glowm.com)
  • As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Århus over a 13-year period. (springer.com)
  • Normal X and Y chromosome profiles were established by analysis with DNA from normal fertile male and female individuals. (bmj.com)
  • The presence of SRY on the X chromosome leads to normal male sexual development with male external genitalia, but hypospadias or cryptorchidism may be seen. (medscape.com)
  • Sex chromosome , either of a pair of chromosomes that determine whether an individual is male or female. (britannica.com)
  • individuals having one X chromosome and one Y chromosome (XY) are male. (britannica.com)
  • 2560 probes in the male specific region of chromosome Y (mLRR-Y) and suggested considerable inter-individual differences regarding the proportion of cells with nullisomy Y. A conservative estimate of the frequency of LOY in the ULSAM cohort at 8.2% (93/1141) was based on the lowest value (-0.139) in a simulated distribution of experimental variation of mLRR-Y ( Fig. 2 ). (pubmedcentralcanada.ca)
  • These data indicate that the combined X and Y tiling path arrays provide an effective tool for the investigation and diagnosis of sex chromosome copy number aberrations and rearrangements. (bmj.com)
  • With the introduction of interphase fluorescent in situ hybridization, or FISH, examination of the chromosomes of every cell within an embryo became possible. (glowm.com)
  • The reason for this is that, in each somatic cell of a normal female, one of the X chromosomes is randomly deactivated. (britannica.com)
  • Furthermore, age-related loss of chromosome Y (LOY) is frequent in normal haematopoietic cells 3 , 4 , but the phenotypic consequences of LOY have been elusive 5 - 10 . (pubmedcentralcanada.ca)
  • Hypertension and congenital heart aberrations are present in around 20% of cases and consists mainly of coarctatio aortae and bicuspid aortic valve. (internetmedicin.se)
  • A literature search for cases with whole chromosome UPD other than UPD 15 was performed. (biomedsearch.com)
  • To investigate crime rates of men with an extra sex chromosome (47,XXY and 47,XYY). (bmj.com)
  • Based on previous small studies, we hypothesised that an increased crime rate would be present in men with an extra sex chromosome and investigated this in a nationwide registry study. (bmj.com)
  • KS&A's mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives. (diseaseinfosearch.org)
  • FISH uses DNA probes that bind to specific regions of the target chromosomes. (glowm.com)
  • FISH probes directly labeled with different colored fluorochromes were developed which bind to the centromeric, or α satellite, regions of the X, Y, and 18 chromosomes, because each of their centromeres contained unique repeat sequences. (glowm.com)
  • Because the fluorochromes were bound to the probes, a fluorescent dot was seen on the chromosome. (glowm.com)
  • The strength of the present study is the large number of men with sex chromosomes and the large control group and the merging of several registries. (bmj.com)