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  • genomic
  • It detects genomic copy number variations at a higher resolution level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
  • Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. (wikipedia.org)
  • patients
  • SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. (nih.gov)
  • In our preliminary studies, we have observed that approximately two-thirds of patients with WAGR syndrome have deletion of the gene which encodes brain-derived neurotrophic factor (BDNF), and that BDNF haploinsufficiency is associated with obesity and with parent reports of hyperphagia and impaired nociception, suggesting that BDNF may play an important role in human energy balance as well as pain sensation. (clinicaltrials.gov)
  • Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. (nih.gov)
  • loops
  • MMR is initiated by recognition of base-base mismatches and/or small insertion/deletion loops by heterodimeric complexes formed by Escherichia coli MutS homologues. (aacrjournals.org)
  • 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)
  • copies
  • This suggest that the rearrangements took place at a time that both parental copies of the chromosome were present and hence early on the development of the cancer cell. (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)
  • autosomal
  • It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. (wikipedia.org)
  • In 2015, it was found that chromothripsis can also be curative: a woman who had WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome, an extremely rare autosomal dominant combined immunodeficiency disease, found her symptoms disappeared during her 30s after chromothripsis of chromosome 2 deleted the disease allele. (wikipedia.org)
  • loss
  • In chromothriptic areas you get alternation of regions which retain heterozygosity-two copy (no loss or gain), with regions that have loss of heterozygosity- one copy (heterozygous deletion). (wikipedia.org)
  • studies
  • In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures. (wikipedia.org)
  • show
  • Using a mouse model of this deletion (named Df1 ) we show that the aortic arch patterning defects that occur in heterozygously deleted mice ( Df1 /+) are associated with a differentiation impairment of vascular smooth muscle in the 4th pharyngeal arch arteries (PAAs) during early embryogenesis. (oup.com)
  • include
  • Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)