• Gene
  • Deletions of regions of chromosome 15 (notably regions 15q15 and 15q22) on several types of human tumours suggest the presence of a potential tumor suppressor gene. (wikipedia.org)
  • Provided that all individuals are affected with the same disease resulting from a manifestation of a deletion of a single copy of the same gene, all individuals will contain one region where their control sample is heterozygous but the mutant sample is homozygous - this region will contain the disease gene. (wikipedia.org)
  • 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)
  • Diagnostic criteria for a BFPP patient entails a heterozygous genotype for a deletion of chromosome 16q12.1-q21 region, including GPR56 gene. (wikipedia.org)
  • The second cause is a deletion or mutation of a single gene. (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)
  • In females the disorder is expressed only when there are two copies of the affected gene present on each X chromosome but since the glycerol kinase gene is present only on one X chromosome the disorder is not expressed in women. (wikipedia.org)
  • The cause of this form is deletion of the Xp21 gene on the X chromosome. (wikipedia.org)
  • patients
  • The phenotype observed in the two patients was very different, as patient 2, who had the largest deletion, had severe kyphosis not observed in patient 1. (biomedsearch.com)
  • genome
  • 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)
  • 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)
  • conventional
  • It detects genomic copy number variations at a higher resolution level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • suggests
  • 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)
  • Evidence suggests that her deletion affects only her voluntary muscles. (hope4katy.com)
  • affects
  • Y linkage, which can also be known as sex linkage or holandric inheritance, affects traits that are located on the Y chromosome. (wikipedia.org)
  • include
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (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)
  • present
  • Common fragile sites are considered part of normal chromosome structure and are present in all (or nearly all) individuals in a population. (wikipedia.org)