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  • locus
  • Kurilo, L. 2006-08-17 00:00:00 Y chromosome deletions in the AZF locus were analyzed during a large-scale andrological and genetic examination of 810 infertile men. (deepdyve.com)
  • Y chromosome deletions in the AZF locus were analyzed during a large-scale andrological and genetic examination of 810 infertile men. (deepdyve.com)
  • Peripheral Myelin Protein 22 gene encodes a 22-kD protein that comprises 2 to 5% of peripheral nervous system myelin, it is located on chromosome locus 17p12 Overlap with Charcot-Marie-Tooth disease type 1A has been found in Gly94fsX222 (c.281_282insG), due to point mutations of PMP 22 that occur in a minority of cases of hereditary neuropathy with liability to pressure palsy. (wikipedia.org)
  • GKD results when the glycerol kinase gene present on the locus Xp21 of the X chromosome is either deleted or mutated. (wikipedia.org)
  • region
  • However, spermatozoa in the ejaculate sediment of men with completely deleted AZFa region or AZFb+c deletions (from solitary spermatozoa to several dozens) were detected for the first time. (deepdyve.com)
  • The arms are separated by a region known as the centromere (red in picture), which is a pinched area of the chromosome. (blogspot.com)
  • Previous studies have identified a 6Mb region of chromosome 21 associated with severe kyphosis. (biomedsearch.com)
  • conventional
  • It detects genomic copy number variations at a higher resolution level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • Conventional karyotypes can assess the entire genome for changes in chromosome structure and number, but the resolution is relatively coarse, with a detection limit of 5-10Mb. (wikipedia.org)
  • behavioral
  • In behavioral context, children with 1p36 deletions have poor social mechanisms commonly observed as temper tantrums, biting of hands and even the wrists. (brighthub.com)
  • species
  • While CFSs could be a result of higher-order chromosome structure, the conservation throughout species could also indicate that they may have some conserved biological purpose. (wikipedia.org)
  • include
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)
  • children
  • A new study suggests that detecting this genetic deletion during the initial evaluation of children with neuroblastoma may indicate to physicians that they should recommend a more aggressive regimen of chemotherapy to fight the cancer. (bio-medicine.org)
  • Most cases are not inherited, but people can pass the deletion on to their children. (wikipedia.org)
  • common
  • Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a population. (wikipedia.org)
  • describe
  • The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. (wikipedia.org)
  • small
  • Some of the chromosomes like 13, 14, and 15 have very small p arms. (blogspot.com)
  • Some are too small to see and other technologies can be used, but it is impossible to say at exactly what spot the deletion started and ended. (blogspot.com)
  • protein
  • Here, we describe a technique that consists of a combination of biochemistry approaches, quantitative proteomics and computational methods using wild‐type and deletion strains to investigate the organization of proteins within macromolecular protein complexes. (embopress.org)
  • Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene. (wikipedia.org)
  • The cause of M2DS is a duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28). (wikipedia.org)
  • several
  • Several studies concentrated on Silene latifolia have shown a correlation between loci on the Y chromosome and the sex that is expressed phenotypically in the flower. (wikipedia.org)
  • fusion
  • This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in chronic myelogenous leukemia (CML) and rarely in some other leukemia forms. (wikipedia.org)
  • presence
  • Because of the presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a gonadoblastoma. (wikipedia.org)