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  • trisomy 15
  • Isolated trisomy 15: a clonal chromosome abnormality in bone marrow with doubtful hematologic significance. (biomedsearch.com)
  • We identified 18 patients with an isolated bone marrow clonal chromosomal abnormality, trisomy 15 (with or without -Y), who did not have any morphologic or clinical features of hematologic disease at initial examination. (biomedsearch.com)
  • Clonal trisomy 15 in isolation or in combination with -Y is an uncommon cytogenetic finding that does not seem to be associated with definitive morphologic or clinical features of MDS or any other malignant process. (biomedsearch.com)
  • genome-wide
  • Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency. (nih.gov)
  • To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. (nih.gov)
  • Since the array used was not a genome-wide array, the width of each chromosome on the plot is not proportional to the chromosome length. (nih.gov)
  • Subsequent investigations using genome-wide paired-end sequencing and SNP array analysis have found similar patterns of chromothripsis in various human cancers, e.g. (wikipedia.org)
  • Species
  • It is expected that by comparing the genomes of humans and other apes, it will be possible to better understand what makes humans distinct from other species from a genetic perspective. (wikipedia.org)
  • mutation
  • A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. (wikipedia.org)
  • It has been hypothesized that all blue-eyed humans share a single common ancestor with whom the mutation originated. (wikipedia.org)
  • Human Mutation. (wikipedia.org)
  • Furthermore, the European mutation is associated with the largest region of diminished genetic variation in the CEU HapMap population, suggesting the possibility that the A111T mutation may be the subject of the single largest degree of selection in human populations of European ancestry. (wikipedia.org)
  • A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. (wikipedia.org)
  • This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain. (wikipedia.org)
  • genetic
  • A feature of chromosomes that are commonly found to undergo such translocations is that they possess an acrocentric centromere, partitioning the chromosome into a large arm containing the vast majority of its genes, and a short arm with a much smaller proportion of genetic content. (wikipedia.org)
  • If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost-and the person is completely normal in spite of the translocation. (wikipedia.org)
  • Most people with Robertsonian translocations have only 45 chromosomes in each of their cells, yet all essential genetic material is present, and they appear normal. (wikipedia.org)
  • Be prepared to describe the karyotype and symptoms associated with the most prominent human chromosomal, allelic (autosomal), and sex-linked genetic abnormalities. (wikipremed.com)
  • Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. (wikipremed.com)
  • The human genetic map has been completed and is much more detailed than was originally contemplated. (genome.gov)
  • Single-base-pair substitutions account for about half as much genetic change as does gene duplication. (wikipedia.org)
  • As mentioned above, gene duplications are a major source of differences between human and chimp genetic material, with about 2.7 percent of the genome now representing differences having been produced by gene duplications or deletions during approximately 6 million years since humans and chimps diverged from their common evolutionary ancestor. (wikipedia.org)
  • These regions contain at least one marker allele that seems unique to the human lineage while the entire chromosomal region shows lower than normal genetic variation. (wikipedia.org)
  • genetics
  • In human genetics we focus on Mendelian inheritance and molecular genetics as those subjects impact the phenotypic traits and medical health of human beings. (wikipremed.com)
  • Human genetics encompasses all of the other topics of genetics and molecular biology. (wikipremed.com)
  • Know how to apply Mendelian concepts to human genetics including interpreting a pedigree chart for patterns of inheritance as well as sex-linked traits. (wikipremed.com)
  • Review the basic terms for human genetics using the question server . (wikipremed.com)
  • American Journal of Human Genetics. (wikipedia.org)
  • deficiency
  • CHST14/D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production. (wikipedia.org)
  • A Glycogenin-1 deficiency leads to Glycogen storage disease type XV. (wikipedia.org)
  • deletions
  • The seven unique or atypical deletions (ie, neither Type 1 or 2) identified from this study are shown in solid lines with base pair positions of BPs confirmed by aCGH. (nih.gov)
  • allele
  • 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)
  • variation
  • V-shaped chromosomes and their significance in Acrididae, Locustidae and Gryllidae: chromosome and variation. (wikipedia.org)
  • Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. (wikipedia.org)
  • The comparable variation within human populations is 0.5 percent. (wikipedia.org)
  • expression
  • Distinct patterns of protein kinase expression were seen in the two trisomic groups, including dosage-dependent over-expression of the chromosome 16-encoded ERK1 in trisomy 16 . (curehunter.com)
  • Kelavkar and Badr (1999) described experiments yielding data that supported the hypothesis that loss of the TP53 gene, or gain-of-function activities resulting from the expression of its mutant forms, regulates ALOX15 promoter activity in human and in mouse, albeit in directionally opposite manners. (wikipedia.org)
  • Some studies have used POTEB probes to study the expression of POTEB in the human brain. (wikipedia.org)
  • Although changes in expression of genes that are expressed in the brain tend to be less than for other organs (such as liver) on average, gene expression changes in the brain have been more dramatic in the human lineage than in the chimp lineage. (wikipedia.org)
  • Study showed human GLIPR1 promoter to be highly methylated in prostate cancer tissues compared to the normal prostate tissue correlating with the decreased level of GLIPR1 expression. (wikipedia.org)