• [7] All Y-linked genes are expressed and (apart from duplicated genes) hemizygous (present on only one chromosome) except in the cases of aneuploidy such as XYY syndrome or XXYY syndrome . (iiab.me)
  • The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (iiab.me)
  • Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (iiab.me)
  • Located on the X chromosome itself, Xist produces a protein that spreads up and down the chromosome during female embryonic development, turning off its genes. (sciencedaily.com)
  • and the University of California, Santa Cruz, Genome Browser, to look for genes or genomic regions of chromosomes 1 and 19 thought to produce proteins that interact with Xist. (sciencedaily.com)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Chromosome 15 likely contains 600 to 700 genes that provide instructions for making proteins. (medlineplus.gov)
  • However, some genes on this chromosome, including some of those in the 15q11.2-q13.1 region, are turned on (active) only on the maternal copy. (medlineplus.gov)
  • In all cases of dup15q syndrome, the duplicated genetic material results in extra copies of certain genes involved in development. (medlineplus.gov)
  • The X chromosome carries many genes which are important for development of the human brain. (chromosomewalk.ch)
  • FDY originated 2 million years ago from a duplication of a contiguous autosomal segment of 11 kb containing five genes that inserted into the Y chromosome. (speakerdeck.com)
  • Since hundreds of genes are present on chromosome arms, high-quality inferences of aneuploidy can be made from scRNA-seq datasets. (techscience.com)
  • Lemieux N., Dutrillaux B., Viegas-Pequignot E., A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes, Cytogenet. (gse-journal.org)
  • Thus, crucial genes seem to have been retained by the Y chromosome. (biomedcentral.com)
  • A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
  • Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
  • The identified DEGs included 20 downregulated genes and 51 upregulated genes, which were highly associated with the cell cycle, organelle fission, chromosome segregation, cell division and spindle stability. (cancerindex.org)
  • Dosage compensation is a process whereby genes on the sex chromosomes achieve equal gene expression which prevents deleterious side effects from having too much or too little expression of genes on sex chromsomes. (asu.edu)
  • Using this approach, I show that more genes are called as sex differentially expressed in several human adult tissues compared to a default reference alignment. (asu.edu)
  • A study shows that rare copy number variants and common variants across 16p that contribute to autism risk functionally converge to downregulate the expression of a large group of neuronally expressed genes in the 16p subtelomeric region. (cdc.gov)
  • We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (PTVs), missense variants and copy number variants (CNVs) in a cohort of 63,237 individuals. (cdc.gov)
  • Fruit flies share about 60% of their genes with humans. (medlineplus.gov)
  • Males have one Y chromosome and one X chromosome , while females have two X chromosomes. (iiab.me)
  • Sex chromosome researchers have long known that the vast majority of human and other mammalian females have two X chromosomes, while the vast majority of males have a single X and a Y, and only one X chromosome is active in females. (sciencedaily.com)
  • To identify the likely location of the repressor protein and the gene that codes for it, the researchers started by looking at cells from human embryos with different forms of chromosomal trisomy, a condition in which cells carry three copies of a particular chromosome instead of two. (sciencedaily.com)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 15. (medlineplus.gov)
  • 15q13.3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. (medlineplus.gov)
  • Whereas over 900 tools are available to analyze scRNA-seq data (as monitored on https://www.scrna-tools.org/), only a handful output aneuploidy data or its sub-chromosomal equivalent copy number alterations (CNAs). (techscience.com)
  • Chromosomal dynamics of human neocentromere formation. (upd-tl.com)
  • Identification of the chromosomal origin of small supernumerary marker chromosomes and its phenotypic effect. (upd-tl.com)
  • Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. (upd-tl.com)
  • Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
  • In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
  • For a subset of 29 patients with fresh-frozen tisue, CGH was used to screen for chromosomal copy number aberrations. (biomedcentral.com)
  • We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)
  • With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (iiab.me)
  • After nearly 40 years of searching, researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos are formed, effectively allowing for the generally lethal activation of more than one X chromosome during development. (sciencedaily.com)
  • However, she says, the gene responsible for this repressor, or even its approximate location in the human genome, has been unclear. (sciencedaily.com)
  • They narrowed their search to a few candidate regions, then turned to a third database, Decipher, which makes it possible to compare human genome variants on tens of thousands of patients with genetic disorders worldwide. (sciencedaily.com)
  • Only one section of the human genome fit the bill with these criteria -- a stretch of DNA on the short arm of chromosome 19. (sciencedaily.com)
  • Human genome assembly solved? (speakerdeck.com)
  • Authors are encouraged to attempt these aneuploid analyses when reporting scRNA-seq data, much like copy-number variants are commonly reported in bulk genome sequencing data. (techscience.com)
  • Our analysis revealed lineage-specific (LS) genomic regions in F. oxysporum that include four entire chromosomes and account for more than one-quarter of the genome. (nature.com)
  • human whole-genome. (scirp.org)
  • Structural variation (SV) influences genome organization and contributes to human disease. (biomedcentral.com)
  • These data provide a foundational map of large SV in the morbid human genome and demonstrate a previously underappreciated abundance and diversity of cxSV that should be considered in genomic studies of human disease. (biomedcentral.com)
  • US Patent 8,209,129 has issued on single copy DNA probes which include divergent repetitive sequences, thus significantly extending the portions of the genome that can be used for such probes beyond traditional single copy sequences. (cytognomix.com)
  • Comparative genomics analyses were used to infer additional X-linked loci in the green anole, RNAseq data from male and female samples were anayzed to quantify patterns of sex-biased gene expression across the genome, and the extent of dosage compensation on the anole X chromosome was characterized, providing evidence that the sex chromosomes in the green anole are dosage compensated. (asu.edu)
  • In chapter 1, I will introduce a method to align RNA-Seq reads to a sex chromosome complement informed reference genome that considers the X and Y chromosomes' shared evolutionary history. (asu.edu)
  • From the abstract: 'Genome sequencing (GS) is one of the most comprehensive assays that interrogate single nucleotide variants, copy number variants, mitochondrial variants, repeat expansions, and structural variants in one assay. (cdc.gov)
  • A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH). (upd-tl.com)
  • Pinkel D., Detection of aneuploidy and aneuploidy-inducing agents in human lymphocytes using fluorescence in situ hybridization with chromosome specific DNA probes, Mutat. (gse-journal.org)
  • Eastmond D.A., Rupa D.S., Hasegawa L.S., Detection of hyperdiploidy and chromosome breakage in interphase human lymphocytes following exposure to the benzene metabolite hydroquinone using multicolor fluorescence in situ hybridization with DNA probes, Mutat. (gse-journal.org)
  • Reproducible DA was observed at ~10% of 450 distinct genomic regions mapped by single copy fluorescence in situ hybridization (scFISH). (cytognomix.com)
  • In mammals, the Y chromosome contains the gene SRY , which by default triggers male development. (iiab.me)
  • In mammals, the Y chromosome contains a gene, SRY , which triggers embryonic development as a male. (iiab.me)
  • Studies done elsewhere identified the mechanism behind the silencing of X chromosomes: a gene called Xist, short for X-inactive specific transcript. (sciencedaily.com)
  • TKTL1: a mutation present in this gene in modern humans seems to drive greater neuron growth than does an ancient hominin version present in Neanderthals and non-human primates. (chromosomewalk.ch)
  • Did this gene give modern human brains their edge? (chromosomewalk.ch)
  • Located on the X chromosome , this gene could explain in part the fact that males (who only have one copy of the X chromosome ) have a greater risk of hospitalization and mortality than females when infected with SARS-CoV-2. (chromosomewalk.ch)
  • Four of these autosome-to-Y gene copies became inactivated ("pseudogenes"), lost part of their sequences, and most likely will disappear in the next few million years. (speakerdeck.com)
  • This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. (cancerindex.org)
  • Chromosome fusion - Gene fusion or chromosome fusion is when two chromosomes are spliced together. (rationalwiki.org)
  • In species with highly heteromorphic sex chromosomes, the degradation of one of the sex chromosomes can result in unequal gene expression between the sexes (e.g., between XX females and XY males) and between the sex chromosomes and the autosomes. (asu.edu)
  • Contributing to the sex differences in gene expression between males and females are the sex chromosomes, X and Y. Gene expression differences on the autosomes and the X chromosome between males (46, XY) and females (46, XX) may help inform on the mechanisms of sex differences in human health and disease. (asu.edu)
  • Characterizing sex-specific gene expression among human tissues will help inform the molecular mechanisms driving sex differences in human health and disease. (asu.edu)
  • In chapter 2, I characterize gene expression in an early formed tissue, the human placenta. (asu.edu)
  • [ 16 ] More commonly, a low gene copy number of C4 is seen as a risk factor for SLE, whereas a high copy number of C4 is protective against SLE. (medscape.com)
  • Aneuploidy, the loss or gain of chromosome arms, appears less prevalent in normal tissue in these clonal mutant next-generation sequencing analyses. (techscience.com)
  • Aneuploidy is known to confer cellular biology effects both dependent and independent of the particular chromosomes altered. (techscience.com)
  • While one might predict that simply mapping read counts per chromosome readily identifies aneuploidy, the reality is that the data are too heterogeneous to quickly determine aneuploidy by eye. (techscience.com)
  • Chromosome segregation errors cause aneuploidy and genomic heterogeneity, which are hallmarks of cancer in humans. (nature.com)
  • examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)
  • During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)
  • In summary, we present several lines of evidence that regional differences in condensation between homologs are programmed during metaphase chromosome compaction. (cytognomix.com)
  • The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes, [11] [12] termed autosomes, when an ancestral animal developed an allelic variation, a so-called "sex locus" - simply possessing this allele caused the organism to be male. (iiab.me)
  • [18] This re-estimation of the age of the therian XY system is based on the finding that sequences that are on the X chromosomes of marsupials and eutherian mammals are present on the autosomes of platypus and birds. (iiab.me)
  • Twenty-two are so-called autosomes and are the same in both males and females. (sciencedaily.com)
  • A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. (upd-tl.com)
  • Dup15q syndrome arises only if the chromosome abnormality occurs on the copy of the chromosome inherited from the mother (the maternal copy). (medlineplus.gov)
  • The most common chromosome abnormality that leads to 15q11.2-q13.1 duplication, occurring in about 80 percent of people with dup15q syndrome, is called an isodicentric chromosome 15. (medlineplus.gov)
  • Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia. (upd-tl.com)
  • Hum Mol Genet, 2023 Jun 19. (nih.gov)
  • The DNA in the human Y chromosome is composed of about 59 million base pairs. (iiab.me)
  • Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered in 1890 by Hermann Henking. (iiab.me)
  • In each cell, most humans have 23 pairs of chromosomes, for a total of 46. (sciencedaily.com)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 15 spans more than 102 million DNA building blocks (base pairs) and represents more than 3 percent of the total DNA in cells. (medlineplus.gov)
  • All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)
  • By 2003, 99% of the chemical base pairs that make up human DNA had been sequenced to within 99.99% accuracy (with the sequencing reported to have reached 100% by 2021). (medscape.com)
  • En règle générale, un test FISH unique examine seulement un ou quelques chromosomes entiersou des loci spécifiques par diapositive, etc hybridations multiples doivent être menées sur plusieurs diapositives pour couvrir l'ensemble des chromosomes humains. (jove.com)
  • The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)
  • Souyris et al reported that in both females and males with Klinefelter syndrome, substantial fractions of primary B lymphocytes, monocytes, and plasmacytoid dendritic cells express TLR7 on both X chromosomes, leading to greater immunoglobulin secretion. (medscape.com)
  • Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)
  • The deletion occurs on the q arm of the chromosome at a position designated q13.3. (medlineplus.gov)
  • As an example, chimpanzees have one more chromosome than humans do. (rationalwiki.org)
  • Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
  • However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
  • Quotes of the quantities of useful RNPs that are generated from 2 to 20 copies of TERT mRNA per cell range from 50 to a few hundred (5,C8). (woofahs.com)
  • Some use the term chromosome in a wider sense, to refer to the individualized portions of chromatin in cells, either visible or not under light microscopy. (wikipedia.org)
  • Cytosine modifications directly affect the positioning of nucleosomes (the first level of chromatin organization into chromosome involving the DNA chain wound around a core of 8 histone proteins), and recruit chromatin-modifying complexes that modify histones. (i-sis.org.uk)
  • For each Chromosome: the top portion is the Paternal side and the bottom portion is the Maternal side. (gramps-project.org)
  • The chromosome segment side (Paternal or Maternal) is determined from the Most Recent Common Ancestor. (gramps-project.org)
  • The imprinted paternal chromosome 15 in a three-generation pedigree also showed non-random bias in DA. (cytognomix.com)
  • L'hybridation fluorescente in situ (FISH) est une technique qui permet des séquences d'ADN spécifiques à détecter sur les chromosomes en métaphase ou en interphase en 1 noyaux des cellules. (jove.com)
  • Small supernumerary marker chromosomes: cytogenetic identification, molecular characterization and correlation with the phenotype. (upd-tl.com)
  • Eggen A., Solinas T.S., Fries R.A., Cosmid specific for sequences encoding a microtubule associated protein, MAPIB, contains a polymorphic microsatellite and maps to bovine chromosome 20q14, J. Hered. (gse-journal.org)
  • We detected copy number variation, frequent insertions and deletions within the sequences of DYZ1 arrays amongst all the three sets of twins used in the present study. (biomedcentral.com)
  • Health authorities hope the updated vaccines will provide better protection against serious consequences of COVID-19, including hospitalization and death. (medicaldaily.com)
  • The Y chromosome is one of two sex chromosomes ( allosomes ) in mammals, including humans , and many other animals. (iiab.me)
  • Most therian mammals have only one pair of sex chromosomes in each cell. (iiab.me)
  • Because so-called X-inactivation is essential for normal female embryo development in humans and other mammals, and two activated X chromosomes create an inherently fatal condition, the research may help explain the worldwide human sex ratio that has slightly favored males over females for as long as science has been able to measure it. (sciencedaily.com)
  • An isodicentric chromosome contains mirror-image segments of genetic material and has two constriction points (centromeres), rather than one centromere as in normal chromosomes. (medlineplus.gov)
  • [4] Before this happens, each chromosome is duplicated ( S phase ), and both copies are joined by a centromere , resulting either in an X-shaped structure (pictured above), if the centromere is located equatorially, or a two-arm structure, if the centromere is located distally. (wikipedia.org)
  • A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). (upd-tl.com)
  • Neocentromeres: role in human disease, evolution, and centromere study. (upd-tl.com)
  • In his famous textbook The Cell in Development and Heredity , Wilson linked together the independent work of Boveri and Sutton (both around 1902) by naming the chromosome theory of inheritance the Boveri-Sutton chromosome theory (the names are sometimes reversed). (wikipedia.org)
  • MTT colorimetric assays, colony formation assays and 5‑ethynyl‑20‑deoxyuridine incorporation assays were also conducted to evaluate ACC cell proliferation. (cancerindex.org)
  • The 23rd pair is composed of the sex chromosomes, either two X's, in the cases of females, or an X and a Y, in the case of males. (sciencedaily.com)
  • In the present study we used DYZ1, a satellite fraction present in the form of tandem arrays on the long arm of the human Y chromosome, as a tool to uncover sequence variations between the monozygotic males. (biomedcentral.com)
  • DYZ1 showed both sequence and copy number variation between the MZT males. (biomedcentral.com)
  • For example, XX females are more likely to suffer from autoimmune diseases, and genetic XY males are more likely to develop cancer. (asu.edu)
  • Single-cell karyotype sequencing confirmed heterogeneity of copy number alterations in tumor PDOs and showed that monoclonal lines evolved novel karyotypes over time in vitro. (nature.com)
  • If the two species share a common ancestor, scientists should be able to figure out what happened to that chromosome. (rationalwiki.org)
  • Cai L., Taylor J. F., Wing R.A., Gallagher D.S., Woo S.S., Davis S.K., Construction and characterization of a bovine bacterial artifical chromosome library, Genomics 29 (1995) 413-425. (gse-journal.org)
  • Libert F., Lefort A., Okimoto R., Womack J., Georges M., Construction of a bovine genomic library of large yeast artificial chromosome clones, Genomics 18 (1993) 270-276. (gse-journal.org)
  • Despite these discoveries, the patterns, rates, and properties of cxSVs have primarily been the focus of cancer genomics and such rearrangements remain largely underappreciated in the human germline. (biomedcentral.com)
  • The most likely explanation for this phenomenon, Migeon reasons, was that a protein that represses the X chromosome silencing activity of Xist was working overtime, allowing more than one X chromosome to remain activated. (sciencedaily.com)
  • This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. (nih.gov)
  • Perturbation of the shelterin protein-interaction network by overexpression or reduction of function outcomes in telomere size adjustments in human being cells (24,C29). (woofahs.com)
  • However, says Barbara R. Migeon, M.D., professor of pediatrics at the Johns Hopkins University School of Medicine and a pioneer in X-inactivation research, she and her colleagues reported nearly four decades ago that in some human embryos with triploidy -- a condition in which there are three sets of chromosomes instead of the usual two -- two copies of the X chromosome remained active. (sciencedaily.com)
  • The research team reported finding examples of trisomies in every chromosome in embryos that survived at least until later stages, except chromosomes 1 or 19. (sciencedaily.com)
  • The team reasoned that if the repressor was in a region that was duplicated, it would work overtime and turn off Xist on both X chromosomes, leaving both the X chromosomes active and selectively changing the survival of male vs. female embryos. (sciencedaily.com)
  • Handyside A.M., Delhanty J.D.A., Cleavage stage biopsy of human embryos and diagnosis of X-linked recessive disease, in: Edwards R.G. (Ed.), Preimplantation Diagnosis of Human Genetic Disease, University Press, Cambridge, 1993, pp.239-270. (gse-journal.org)
  • Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. (upd-tl.com)
  • Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. (upd-tl.com)
  • If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
  • The chromosome number of this cell is 2n-1 = 45. (schleiden-eifel.de)
  • This technologic and biologic revolution continued through the 1960s to today, and the explosion in technology has fueled the current expansion of knowledge into the working of the human cell. (medscape.com)
  • However telomeres at different chromosome ends within one cell or telomeres of the same chromosome within a cell human population can differ in size. (woofahs.com)
  • Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
  • Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. (upd-tl.com)
  • It is unknown, however, how prevalent CIN is in human tumors. (nature.com)
  • In people with an isodicentric chromosome 15, cells have the usual two copies of chromosome 15 plus the two duplicated copies of the segment of genetic material in the isodicentric chromosome, for a total of four copies of the duplicated segment. (medlineplus.gov)
  • In these cases, cells have two copies of chromosome 15, one of which has an extra copy of the segment of genetic material, for a total of three copies of the duplicated segment. (medlineplus.gov)
  • Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. (upd-tl.com)
  • This cohort study of 522 children with previously unexplained epilepsy used exome sequencing to identify and clinically confirm diagnostic results for 100 children, including 89 with single nucleotide variants and 11 with copy number variants. (cdc.gov)
  • Mammalian Y chromosome originated from an ancestral autosome about 300 million years ago is a degenerated X-chromosome [ 16 ]. (biomedcentral.com)
  • Additional non-DA probes ( NOMO1 , NOMO3 ) hybridized to grooves in chromosome topography and exhibited a narrow range of probe depths (average: 0.08 μm) along axial and lateral axes of the 2 homologs. (cytognomix.com)
  • Sex-chromosome copy number variations are also implicated in the risk of SLE. (medscape.com)
  • Hovering the cursor over a painted chromosome segment will show a tooltip with the name of the associated person, ID, length in cMs (centiMorgans) of the shared segment, and matching SNPs of the segment if provided. (gramps-project.org)
  • Transfer of LS chromosomes between otherwise genetically isolated strains explains the polyphyletic origin of host specificity and the emergence of new pathogenic lineages in F. oxysporum . (nature.com)
  • Among humans, some men have two Xs and a Y ("XXY", see Klinefelter syndrome ), or one X and two Ys (see XYY syndrome ), and some women have three Xs or a single X instead of a double X ("X0", see Turner syndrome ). (iiab.me)
  • For example, Down syndrome in humans is marked by a trisomy of chromosome 21. (sciencedaily.com)
  • Duplication of a region of the long (q) arm of chromosome 15 can result in 15q11-q13 duplication syndrome (dup15q syndrome), a condition whose features can include weak muscle tone (hypotonia), intellectual disability, recurrent seizures (epilepsy), and characteristics of autism spectrum disorder affecting communication and social interaction. (medlineplus.gov)
  • Dup15q syndrome is caused by the presence of at least one extra copy of a region of chromosome 15 called 15q11.2-q13.1. (medlineplus.gov)
  • People with dup15q syndrome resulting from an interstitial duplication often have milder signs and symptoms than those in whom the disorder results from an isodicentric chromosome 15. (medlineplus.gov)
  • A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma. (upd-tl.com)
  • The occurrence is about 6 per 1000 in Asia, 10-20 per 1000 in Europe and USA and about 40 per 1000 in Africa [ 8 , 15 ]. (biomedcentral.com)
  • A Big Bang model of human colorectal tumor growth. (nature.com)
  • Sites like [https://www.gedmatch.com/login1.php GEDmatch] make this shared chromosome data available. (gramps-project.org)
  • https://dnapainter.com/help/matchdata DNApainter] provides a description of how to get the chromosome data from many of the common sites. (gramps-project.org)