Chromosome duplication. Medical search. Frequent questions

Aortic abnormalities are caused by deletions/duplications of the ELN gene. (chromodisorder.org)
Characterisation of breakpoints in patients with apparently balanced constitutional chromosome rearrangements and phenotypic abnormalities has proved an invaluable strategy for identifying disease causing genes, especially those on the X chromosome. (bmj.com)
3- 6 Phenotypic abnormalities seen in cases with apparently balanced chromosome rearrangements have usually been explained by the disruption of a gene at the breakpoint causing the loss of gene function. (bmj.com)
Syndrome Dup11q is a chromosomal abnormality caused by duplication of the distal end of the long arm of chromosome 11 resulting in a partial trisomy, product of a chromosomal imbalance, with dysfunction of the genes involved in this additional genetic material causing both physical and mental abnormalities in a newborn. (una.py)
Aneuploidies were detected in 7.3% and partial chromosome abnormalities in 0.45% (n = 13), including 5 referred for maternal age, abnormal maternal serum screen, or isolated ultrasound markers. (nih.gov)
The study of chromosomes and their abnormalities is known as cytogenetics. (wakehealth.edu)
Chromosome abnormalities constitute a major category of medical genetic disorders. (wakehealth.edu)
To identify chromosome abnormalities detectable by routine cytogenetic analysis. (wakehealth.edu)
To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. (wakehealth.edu)
Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
Abnormalities can also occur when a person is missing part of a sex chromosome (called a deletion). (msdmanuals.com)
Sex chromosome abnormalities are common and cause syndromes that are associated with a range of physical and developmental problems. (msdmanuals.com)
Testing for chromosome and gene abnormalities Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
Down Syndrome (Trisomy 21) Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (msdmanuals.com)
We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. (lu.se)

The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3. (symptoma.com)
Standard Therapies Treatment The treatment of Chromosome 3, Trisomy 3q2 is directed toward the specific symptoms and physical findings that are apparent in each individual. (symptoma.com)
Trisomy 18 , also known as Edwards syndrome , is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18 . (wikipedia.org)
[3] Occasionally, not all cells have the extra chromosome, known as mosaic trisomy , and symptoms in these cases may be less severe. (wikipedia.org)
Trisomy 18 is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole ( trisomy 18) or in part (such as due to translocations ). (wikipedia.org)
A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. (bvsalud.org)
occur when a person is missing a whole sex chromosome (called monosomy) or has an extra sex chromosome (one extra is trisomy). (msdmanuals.com)

Duplication of one or several of the genes within the 650 kb interval is likely to be responsible for the mental retardation phenotype seen in our patient. (bmj.com)
In those with the maternally inherited duplication, we found that there were significant changes in the genes related to inhibitory neurons, the unfolded protein response, and anion transport. (ucla.edu)
Those with the paternally inherited duplication showed changes in genes connected to cell sensing, cell potential energy, and overall energy levels. (ucla.edu)
Both the maternal and paternal duplication groups shared changes in genes related to synapses and cell homeostasis. (ucla.edu)
The long-term undifferentiation of molluscan sex chromosomes is potentially sustained by the unexpected intertwined regulation of reversible sex-biased genes, together with the lack of sexual dimorphism and occasional sex chromosome turnover. (nature.com)
The pleiotropic constraint of regulation of reversible sex-biased genes is widely present in ancient homomorphic sex chromosomes and might be resolved in heteromorphic sex chromosomes through gene duplication followed by subfunctionalization. (nature.com)
The evolutionary dynamics of sex chromosomes suggest a mechanism for 'inheritance' turnover of sex-determining genes that is mediated by translocation of a sex-determining enhancer. (nature.com)
Genes are arranged in long strands of tightly packed DNA called chromosomes. (cancer.gov)
Fission yeast is a single-celled organism with chromosomes very similar to those in humans, and uses the same genes to maintain those chromosomes. (usc.edu)
Instead of mutations occurring in individual genes, this yeast can mutate by reorganizing their chromosomes and make extra copies of large chromosome pieces. (wellnessresources.com)
Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)

Two patients had large direct duplications of 15q11q13 [dir dup(15)(q11q13)] that extended through the entire Angelman syndrome/Prader-Willi syndrome (AS/PWS) chromosomal region. (nih.gov)
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. (harvard.edu)
In most cases is associated with a microdeletion of chromosome 22 and less frequently with Down syndrome. (una.py)
Chromosome 15q11-13 duplication occurs when there is an additional copy of genetic material on chromosome 15, which results in 15q duplication syndrome, a condition characterized by neurodevelopmental delay, hypotonia, epilepsy, and autism spectrum disorder. (ucla.edu)
The second most common form of CMT1 (CMT1B) and some cases of Déjerine-Sottas syndrome were found to be associated with mutations in the myelin protein zero ( MPZ ) gene on chromosome 1. (medscape.com)
[2] It is the second-most common condition due to a third chromosome at birth, after Down syndrome . (wikipedia.org)
Mike Porath, editor-in-chief of Sphere.com, writes about his autistic daughter being diagnosed with Chromosome 15q Duplication Syndrome. (stephaniesarkis.com)
JP was diagnosed with Duplication15q Syndrome, a genetic condition caused by the duplication of a section of chromosome 15. (massgeneral.org)
Down syndrome is caused by an extra chromosome 21. (msdmanuals.com)
Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (msdmanuals.com)
Klinefelter syndrome is caused by a chromosomal anomaly which implies a partial or total duplication of chromosome X in presence of chromosome Y. It is reported the case of a sixmonth old child who was the second child of a non-related couple. (bvsalud.org)
Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)

The most frequent events reshaping chromosomes were translocations of chromosomal arms. (wellnessresources.com)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)

Replication is initiated at multiple origins of replication on multiple chromosomes simultaneously so that the duration of S phase is not limited by the total amount of DNA. (wikipedia.org)
When a few of these sequences are deleted, DNA is still copied from other intact origins, but when many are deleted, chromosome replication slows down dramatically. (wikipedia.org)
The ORC is a six subunit complex that binds DNA and provides a site on the chromosome where additional replication factors can assemble. (wikipedia.org)
Replication studies in the mother and daughter showed a skewed X inactivation pattern in lymphocytes, with the normal X chromosome preferentially inactivated. (bmj.com)
The events of meiotic prophase follow a specialized round of DNA replication when the meiotic chromosome axis is formed. (biorxiv.org)
The origin recognition complex (ORC) is essential for initiation of eukaryotic chromosome replication as it loads the replicative helicase-the minichromosome maintenance (MCM) complex-at replication origins 1 . (nature.com)
Our results establish that ORC, in addition to its canonical role as the MCM loader, has a second crucial function as a master regulator of nucleosome organization at the replication origin, a crucial prerequisite for efficient chromosome replication. (nature.com)
The Stillman lab searched for the protein(s) that start cell chromosome duplication, rather than virus genome replication. (cshl.edu)
Tens of thousands of ORCs assemble simultaneously along the chromosomes and after assembly, they are sequentially employed to start replication. (cshl.edu)
Not only are ORC proteins involved in DNA replication, but they also help divide the chromosomes equally into the two new cells. (cshl.edu)
Chromosome replication is performed by a large multisubunit assembly, known as the replisome, which couples the unpackaging of parental DNA with the synthesis of new daughter strands. (mpg.de)
The dynamic events that underlie the disassembly and reassembly of nucleosomes during replication remains a long-standing puzzle in chromosome biology. (mpg.de)
Resolution of superhelical tension is critical to ensure replication fork progression and avoid chromosome damage. (mpg.de)
The duplication of chromosomes and the regulation of their replication and repair requires dozens of proteins acting together to maintain the duplex DNA genome. (rockefeller.edu)
Clonal dissemination is associated with chromosome replication, plasmid conjugation with replicative transfer, and gene migration with replicative transposition ( 1 ). (cdc.gov)

The construction of BAC-based physical maps of individual chromosomes reduces the complexity of this allohexaploid genome, enables elucidation of gene space and evolutionary relationships, provides tools for map-based cloning, and serves as a framework for reference sequencing efforts. (biomedcentral.com)
Here, we provide a chromosome-specific view into the organization and evolution of the D genome of bread wheat, in comparison to one of its ancestors, revealing recent genome rearrangements. (biomedcentral.com)
In the absence of a finished quality genome sequence, insights into wheat genome structure and function have been accumulating through survey sequencing of individual chromosomes or chromosome-specific Bacterial Artificial Chromosome (BAC) libraries. (biomedcentral.com)
In the mammalian genome, this group of proteins assembles at tens of thousands of sites all at once, ensuring each chromosome is copied precisely once per cell division. (cshl.edu)
To ensure genome integrity, this sophisticated molecular machine must coordinate events over a broad range of time and length scales, from the breaking and reformation of chemical bonds within DNA polymerases to the large-scale structural rearrangements of chromosomes. (mpg.de)
Professor Forsburg studies how chromosome duplication and maintenance contributes to overall genome stability using a simple model genetic system, the fission yeast Schizosaccharomyces pombe . (usc.edu)
Fidelity in transmission of genetic characters is ensured by the faithful duplication of the genome, followed by equal segregation of the genetic material in the progeny. (ias.ac.in)
Several rounds of genome reduplication before chromosome segregation upsets this cycle and leads to polyploidy. (ias.ac.in)
A detailed mapping of the chromosome abnormality using whole genome array based comparative genomic hybridization (CGH) of the patient DNA revealed a duplication 16q12.1-q22.1 corresponding to gain of 19.8 Mb of DNA without any detectable loss of genetic material on chromosome 11. (lu.se)

Syndromes that are caused by a sex chromosome abnormality are less severe than those caused by a nonsex chromosome abnormality. (msdmanuals.com)
We report a 7-year-old girl with spina bifida carrying a complex chromosome abnormality resulting in duplication 16q 12.1 -q22.1. (lu.se)

An aberration in which an extra chromosome or a chromosomal segment is made. (harvard.edu)
which commonly results from a person having an extra chromosome 21. (msdmanuals.com)
An extra chromosome 1 can be fatal to a fetus. (msdmanuals.com)

One of the earliest events is the increased copy number of 12p, either as 1 or more copies of i(12p)-an isochromosome of the short arm of chromosome 12-or as tandem duplications of chromosome arm 12p. (medscape.com)
The vWF gene is located near the tip of the short arm of chromosome 12. (medscape.com)

The extent, orientation, and parental origin of the duplications were assessed by fluorescent in situ hybridization, microsatellite analyses, and methylation status at D15S63. (nih.gov)
and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. (lu.se)

Prior to the first meiotic division, homologous chromosomes pair, synapse, and recombine to ensure their proper disjunction at anaphase I. Additionally, telomeres tethered at the nuclear envelope cluster in the bouquet configuration where they are subjected to dramatic pulling forces acting from outside of the nucleus. (biorxiv.org)
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). (wikipedia.org)
Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. (wakehealth.edu)

An abnormal karyotype was identified involving the long arm of chromosome 11. (lu.se)

Chromosome 7q11.23 deletions and duplications cause different symptoms. (chromodisorder.org)
Both deletions and duplications of this segment are known to cause different disorders. (chromodisorder.org)
Single-nucleotide substitutions account for 95% of the mutational events in the VH gene, with small deletions and duplications accounting for most of the remaining. (lu.se)

17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of the duplication in each cell is sufficient to cause the signs and symptoms. (medlineplus.gov)
We tested 2,970 prenatal samples of all referral indications using a rapid BACs-on-Beads-based assay with probes for sex chromosomes, common autosomal aneuploidies, and 20 microdeletion/microduplication syndromes, designed as an alternative to microarray in low-risk pregnancies and an alternative to rapid aneuploidy testing in pregnancies also undergoing microarray analysis. (nih.gov)
There are 22 pairs of chromosomes that are not sex chromosomes (called nonsex chromosomes, numbered chromosomes, or autosomal chromosomes) and one pair of sex chromosomes. (msdmanuals.com)

This results in the formation of unique, giant chromosomes, called polytene chromosomes. (jove.com)
When viewed under a microscope, an alternating pattern of dark bands and lighter interbands can be seen in the polytene chromosomes. (jove.com)
In agreement with these observations, the Pcif1 protein is distributed all along the polytene chromosomes at the level of active transcription sites and interferes with chromatin-dependent gene expression regulation. (cea.fr)
Polytene chromosomes result from a succession of chromatid duplications that remain associated without concomitant cell division. (cea.fr)

Five pairs are acrocentric chromosomes and one pair is metacentric . (wikipedia.org)
A pair of X and Y chromosomes (XY) results in a male, and a pair of X and X chromosomes (XX) results in a female. (msdmanuals.com)

This suggests that duplications and deletions may be the reciprocal product of an unequal recombination event. (nih.gov)
O'Donnell's laboratory studies these DNA metabolic mechanisms with the goal of understanding how the protein gears of DNA duplication act together with signal processes that function with repair and recombination factors to ensure genomic integrity. (rockefeller.edu)

Language characterization in 16p11.2 deletion and duplication syndromes. (harvard.edu)

First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa. (harvard.edu)

Chromosome segregation errors during meiosis are the leading cause of birth defects and developmental delays in humans ( H assold and H unt 2001 ). (biorxiv.org)
Accurate duplication and segregation of our chromosomes is critical for human development and well-being. (usc.edu)
Thus, alternation of DNA duplication (S-phase) and chromosome segregation during the M-phase are hallmarks of most well studied eukaryotes. (ias.ac.in)

A partial, nonfunctional duplication (pseudogene) is present on chromosome 22. (medscape.com)

In plants, the most dramatic form of mutation is polyploidization, the duplication of the chromosome set. (lu.se)

Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
In this study, we constructed the first comprehensive physical map of wheat chromosome arm 5DS, thereby exploring its gene space organization and evolution. (biomedcentral.com)
Daish, T. & Grützner, F. Evolution and meiotic organization of heteromorphic sex chromosomes. (nature.com)
In eukaryotic organisms, nucleosomes function as the most basic unit of chromosome organization directly binding and assembling on DNA to modulate DNA topology, drive compaction, and regulate transcription. (mpg.de)
In eukaryotes, the number and rough organization of chromosomes is well preserved within isolates of the same species. (wellnessresources.com)

Y chromosome gain does not seem to represent per se an unfavourable event, unless it is associated with additional chromosome change. (karger.com)
The additional chromosome usually occurs before conception . (wikipedia.org)

Diagnosis of Chromosome 1q Duplication has not been added yet. (rareshare.org)
We anticipate that the patients will have slightly abnormal chromosome numbers at the time of diagnosis. (vin.com)

Some cancer cells have double the normal number of chromosomes. (cancer.gov)

Psychiatric disorders in children with 16p11.2 deletion and duplication. (harvard.edu)
Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)

Bell, S. P. & Labib, K. Chromosome duplication in Saccharomyces cerevisiae . (nature.com)

This duplication affects one of the two copies of chromosome 17 in each cell. (medlineplus.gov)
Three copies of the Chromosome 18 are detected. (wikipedia.org)
Here, hundreds to thousands of copies of each chromosome are generated without any cell division. (jove.com)

[ 10 , 11 ] This duplication is believed to be in the peripheral myelin protein 22kD ( PMP22 ) gene, and overexpression of the gene product appears to be causative, since a gene dosage effect has been demonstrated. (medscape.com)
Peripheral changes in chromosomes could provide a unique window for determining what is happening to the patient. (vin.com)

duplication of 7q11.23 cause a wide range of clinical manifestations that are hard to recognize before cytogenetic examination. (chromodisorder.org)

Surprisingly, the nup2Δ ndj1Δ double mutant failed to segregate chromosomes, even though the meiotic program continued. (biorxiv.org)
A . Schematic of the bouquet configuration of chromosomes during meiotic prophase I. The spatial arrangement of chromosomes with telomeres clustered and attached at the inner nuclear membrane is shown. (biorxiv.org)

Signs and symptoms related to 17q12 duplications vary significantly, even among members of the same family. (medlineplus.gov)
Some individuals with the duplication have no apparent signs or symptoms, or the features are very mild. (medlineplus.gov)
Because some people with a 17q12 duplication have no obvious intellectual or physical problems, researchers suspect that additional genetic factors may influence whether a person has signs and symptoms related to the chromosomal change. (medlineplus.gov)
Symptoms for Chromosome 1q Duplication has not been added yet. (rareshare.org)

Depending on how the duplication is inherited, this can lead to differing phenotypic expression within an affected individual. (ucla.edu)

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. (harvard.edu)
Neurodevelopmental and psychiatric conditions that have been reported in people with 17q12 duplications include autism spectrum disorder (which affects social interaction and communication), schizophrenia , aggression, and self-injury. (medlineplus.gov)

The duplication disorder usually affects those who have inherited the duplication maternally, whereas fewer than 50 percent of those who inherited the duplication paternally experience the clinical features of the duplication disorder, especially autistic features. (ucla.edu)

Although the gene sequences were well conserved among different strains, their chromosome structures differed drastically. (wellnessresources.com)

Molluscs constitute the second largest, Precambrian-originated animal phylum and have ancient, uncharacterized homomorphic sex chromosomes. (nature.com)

To investigate the possibility that a novel candidate gene for XLMR was disrupted at the X chromosome translocation breakpoint, we mapped the breakpoint using fluorescence in situ hybridisation (FISH). (bmj.com)
Intriguingly, we found that the X chromosome breakpoint in the daughter could not be defined by a single breakpoint spanning genomic clone and further analysis showed a 650 kb submicroscopic duplication between DXS7067 and DXS7060 on either side of the X chromosome translocation breakpoint. (bmj.com)
However, other mechanisms of disease causation have also been described where (1) a breakpoint disrupts or alters gene expression via a position effect 7 or (2) a cryptic deletion or duplication is identified at the translocation breakpoint. (bmj.com)
As part of this project, a novel chromosome translocation was identified, which provides a model for Robertsonian translocation. (usc.edu)

These two duplications were maternally derived, but the origin of the chromatids involved in the unequal crossing over in meiosis differs. (nih.gov)

This information will assist in discovery of similarities and differences between the gene expression of the two types of duplication inheritance. (ucla.edu)
Moreover, this inheritance pathway must be coordinated with the deposition of newly synthesized histones to ensure chromosome duplication. (mpg.de)

Typically, when a diploid cell divides, it first duplicates each of its chromosomes. (jove.com)

18- 21 Xq28 is a highly gene rich region of the human X chromosome and we focused on the X chromosome breakpoint as the identification of a disrupted gene here would be a rapid way to identify a further candidate gene for X linked mental retardation within Xq28. (bmj.com)
Stretching out the DNA in all 46 chromosomes packed into one human cell would make a string of DNA two meters long. (cshl.edu)
Except for certain cells (for example, sperm and egg cells or red blood cells), every human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. (msdmanuals.com)

and an ectopic insertion into the VH from chromosome I. The results support the proposal that aberrant antibody hypermutation can lead to gross genomic alterations but indicate that such events are rare. (lu.se)

Chromosome Duplication" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)

The duplication occurs on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)

Chromosome 1q Duplication is a rare chromosomal disorder resulting in small stature, growth defiency, global delays, behavior issues, chronic pneumonia, chronic ear infections and hearing loss. (rareshare.org)

Chromosome counts can identify numerical changes, such as chromosome deletions or duplications. (vin.com)

Immunofluorescence analysis with anti-Pcif1 antibodies revealed the presence of the Pcif1 protein (in green) along the chromosome at transcriptionally active euchromatin sites ( i.e. excluded from DAPI dense staining, in red). (cea.fr)

Nigéria, en décembre 2022 et publie depuis lors des rapports mensuels. (who.int)

In one patient, the duplication originated from two different maternal chromosomes, while in the other patient it arose from the same maternal chromosome. (nih.gov)
The 15q Duplication can be inherited maternally or paternally, but is typically maternal. (ucla.edu)
To do this we collected and analyzed RNA sequencing data representing gene expression from the cerebral cortex of mice carrying either maternal or paternal 15q duplications. (ucla.edu)

We seek to define the operating principles that guide replisome function and understand how replisomes recognize and process obstacles encountered on parental chromosomes such as DNA lesions, unfavorable topological structures, and architectural factors. (mpg.de)

Apparently, this yeast can generate a new chromosome by duplication of chromosome segments carrying a centromere and subsequently adding novel telomeric ends. (wellnessresources.com)

Anatomy61

Organisms16

Diseases29

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Psychiatry and Psychology1

Phenomena and Processes169

Disciplines and Occupations3

Technology, Industry, Agriculture3

Information Science4

Abnormalities15

Trisomy7

Genes13

Syndrome12

Translocations2

Replication15

Genome9

Abnormality2

Extra chromosome3

Short arm of chromosome2

Fluorescent in situ hybri2

Homologous3

Long arm of chromosome1

Deletions and duplications3

Autosomal3

Polytene chromosomes4

Pair2

Recombination2

Syndromes1

Novo1

Segregation3

Partial1

Mutation1

Organization5

Additional chromosome2

Diagnosis2

Cancer1

Disorders4

Saccharomyces1

Copies3

Peripheral2

Cytogenetic1

Meiotic2

Symptoms4

Phenotypic1

Autism2

Clinical1

Strains1

Constitute1

Translocation4

Meiosis1

Inheritance2

Diploid1

Human3

Genomic1

MeSH1

Occurs1

Disorder1

Numerical1

Protein1

20221

Maternal3

Structures1

Apparently1