The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Telomere2
Telomere abnormalities and chromosome fragility in patients affected by familial papillary thyroid cancer. (unica.it)
Dr. Multani has extensive expertise in the field of Human and Mammalian Cytogenetics, and specializes in the evaluation of genetic instability and complex chromosomal rearrangements in cancer cells, telomere dysfunction, characterization of embryonic stem cells, and authentication of cell lines. (mdanderson.org)
Aberrations5
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
The aim of the project is to improve the surveillance of patients with chromosome 6 aberrations and the support for their families by increasing the available information about these rare aberrations. (biomedcentral.com)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)
Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)
Centromere protein A (CENP-A) defines centromere identity and nucleates kinetochore formation for mitotic chromosome segregation. (bvsalud.org)
Breakage2
This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. (wikipedia.org)
The frequency of these rearrangements is high enough to be detected upon routine cytogenetic examination of metaphase chromosomes. (biomedcentral.com)
Somatic2
Somatic loss of the Y chromosome is associated with arsenic exposure among Bangladeshi men. (cdc.gov)
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)
Characteristic2
The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. (biomedcentral.com)
Genetics The most notable genetic feature is the characteristic rearrangement of the chromosome 17 short arm . (symptoma.com)
Disorders1
Terminal 6q deletions are a variable group of chromosome disorders, with the largest deletions extending from 6q25.2 to 6qter (up to 16 Mb in size) and the smallest deletions restricted to the most distal band 6q27 (as small as 390 kb in size) [ 1 ]. (biomedcentral.com)
Deletions1
Much of this DNA hypomethylation is in 1qh, 9qh, and 16qh, regions that are the site of whole-arm deletions, chromatid and chromosome breaks, stretching (decondensation), and multiradial chromosome junctions in mitogen-stimulated lymphocytes. (biomedcentral.com)
Chromosomal rearrangements1
This review emphasizes the potential of analysing chromosomal rearrangements as a means to rapidly define candidate disease loci for further investigation. (neurotransmitter.net)
Centromere2
Note that the instability is not in the centromere itself, but rather in the region adjacent to the centromere (qh), predominantly in chromosomes 1 and 16. (biomedcentral.com)
ICF (OMIM #24242860) is a rare autosomal recessive disease that involves agammaglobulinemia or hypoglobulinemia with B cells as well as DNA rearrangements targeted to the centromere-adjacent heterochromatic region (qh) of chromosomes 1 and/or 16 (and sometimes 9) in mitogen-stimulated lymphocytes. (biomedcentral.com)
Genetic1
This process relies on the massive expansion of pathogen-specific B cells, which is accompanied by genetic rearrangements that ensure lymphocytes to produce antibodies with greater neutralizing activity. (armeniseharvard.org)
Disorder1
Furthermore, heterozygous missense mutation in P4HB can cause Cole-Carpenter syndrome, a severe bone fragility disorder. (wikipedia.org)
Mechanism1
Using whole-genome sequencing of OS, we found features of TP53 intron 1 rearrangements suggesting a unique mechanism correlated with transcription. (oncotarget.com)
Findings1
These findings led to the hypothesis that chromosome structure directly influences cellular phenotypes. (nature.com)
Stability2
Chromosome stability test in both cattle and river buffaloes exposed to dioxin. (cnr.it)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. (lookformedical.com)
Tumors2
Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (OS), a highly malignant neoplasm of bone belonging to the spectrum of LFS tumors. (oncotarget.com)
Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. (oncotarget.com)
Genes2
S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. (wn.com)
all genes associated with this syndrome (ie, DKC1 , TERT, TERC, NOP10 ) encode proteins in the telomerase complex responsible for maintaining telomeres at the ends of chromosomes. (medscape.com)
Regions2
These rearrangement-prone heterochromatic regions exhibit DNA hypomethylation in all examined ICF cell populations. (biomedcentral.com)
ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes. (cnr.it)
Point1
Viruses could tinker with gene structure, in many settings, exerting largely the same effects in males and females at the same time and at the same point on the chromosome, and do so to large numbers at once, and produce a large cluster of organisms that can breed with each other but not with the parent stock. (behavior.net)
Structure2
Early observations revealed that individual chromosomes occupy distinct nuclear territories and, while their arrangement varies between different cell types, this structure is conserved between mother and daughter cells 2 . (nature.com)
The human P4HB gene is localized in chromosome 17q25. (wikipedia.org)
Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)
Cells1
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. (lookformedical.com)
Formation1
Lastly, we demonstrate that acute ATR inhibition during interphase leads to kinetochore formation defects and an increased rate of lagging chromosomes. (bvsalud.org)
Loss1
In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). (lookformedical.com)
Members1
The Chromosome 6 Project is a collaboration between researchers and clinicians at the University Medical Center Groningen and members of a Chromosome 6 support group on Facebook. (biomedcentral.com)