Study chromosome duplication. Medical search. Frequent questions

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)
In order to understand the molecular mechanisms and phenotypic effects of genomic rearrangements in the development of the genitourinary tract, she uses different molecular techniques that allow one to identify and characterize the breakpoints of submicroscopic chromosome deletions and duplications, to infer mechanisms and to study patients to determine potential phenotypic consequences of copy-number variation and gene mutations. (bcm.edu)
Your participation helps increase our knowledge about 17q12 deletions and duplications, with the goal of improving the lives of affected individuals and their families. (geisinger.edu)
We also detected 13 loci with recurrent/overlapping CNV in unrelated cases, and at these sites, deletions and duplications affecting the same gene(s) in different individuals and sometimes in asymptomatic carriers were also found. (nih.gov)

Aortic abnormalities are caused by deletions/duplications of the ELN gene. (chromodisorder.org)
7q11.23 duplication syndrome, a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities, results from an extra copy of a region on the long (q) arm of chromosome 7. (medlineplus.gov)
Abnormalities of chromosome 7 are responsible for some cases of Greig cephalopolysyndactyly syndrome, a disorder that affects development of the limbs, head, and face. (medlineplus.gov)
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)
In the first major study of its kind, researchers using MRI have identified structural abnormalities in the brains of people with one of the most common genetic causes of autism, according to a new study in Radiology . (rsna.org)
Many people with autism have abnormalities at a specific site on the 16th chromosome known as 16p11.2. (rsna.org)
PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
The subject of this study was a two-and-a-half-year-old patient with an extensive list of developmental and physical abnormalities (e.g. trouble feeding, dysmorphic facial features, severe language delays). (empiregenomics.com)
The subject of this study was a 3 year-old male, born to nonconsanguineous healthy parents, who presented with various physical and developmental abnormalities. (empiregenomics.com)
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)
We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
Bryndorf et al 2 applied CGH to the study of unbalanced karyotypes in prenatal cases, including seven cases of unbalanced structural abnormalities and four cases of simple aneuploidies. (bmj.com)
Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.com)
Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)
2 Consequently, screening for subtelomeric abnormalities has become a diagnostic test that is offered by diagnostic laboratories, and a number of studies reporting new subtelomeric rearrangements have been published. (bmj.com)
Abnormalities that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect. (msdmanuals.com)
Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may involve aneuploidy, partial deletions or duplications of sex chromosomes, or mosaicism. (msdmanuals.com)

Multiple studies have found a correlation between the location of segmental duplications and regions of chromosomal instability. (wikipedia.org)
Comparison can be made between chromosomes that were positive by FISH and the chromosomal position using BLAST. (wikipedia.org)
This shows that segmental duplications are responsible for defining locations of chromosomal rearrangement within the human genome. (wikipedia.org)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 7. (medlineplus.gov)
These chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the GLI3 gene. (medlineplus.gov)
We emphasize the importance of chromosomal studies in infants with major congenital malformations for a subsequent accurate diagnosis and genetic counseling to parents. (una.py)
His lab studies how the replisome interacts with DNA repair and cell cycle checkpoint machinery, how initiation of replication is directed by nucleosomes, and how replication forks perform nucleosome inheritance, the process by which nucleosomes (the fundamental structural unit of chromosomal DNA) are passed down from parental to daughter DNA during replication. (rockefeller.edu)
The most frequent events reshaping chromosomes were translocations of chromosomal arms. (wellnessresources.com)
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)
The other explanations include either true chromosomal duplication(s) or localized amplification of the centromeric region that complements the CEP17 probe [ 5 ]. (jcancer.org)
Conventional chromosomal analysis from cultured amniotic fluid cells revealed additional material added to the end of the long arm of 1 chromosome 10. (nycu.edu.tw)
The toddler was found to have the first reported balanced chromosomal complex rearrangement involving chromosomes 1, 9 and 10, inherited from his partially affected mother. (empiregenomics.com)
In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise normal chromosomes. (bmj.com)
Chromosomal identification of marker chromosomes and extra bands on chromosomes through molecular techniques is always of clinical interest. (bmj.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)

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)

Less commonly, FOXP2 -related speech and language disorder results from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two copies of chromosome 7 from the mother instead of one from each parent (a phenomenon called maternal uniparental disomy or maternal UPD, which is described in more detail with Russell-Silver syndrome, below). (medlineplus.gov)
In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material between chromosome 7 and another chromosome. (medlineplus.gov)
As part of this project, a novel chromosome translocation was identified, which provides a model for Robertsonian translocation. (usc.edu)
Our JAK2 break-apart probe was used to detect a novel JAK2 translocation, t(8;9)(p22;p24), in the subject under study. (empiregenomics.com)
Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. (nih.gov)

Segmental duplications are shown to be flanked on both sides by large homologous repeats, which exposes the region to recurrent rearrangement by nonallelic homologous recombination, leading to either deletion, duplication, or inversion of the original sequence. (wikipedia.org)
Cataloging of segmental duplications was originally difficult due to its inconspicuousness, large size, and high degree of sequence similarity. (wikipedia.org)
Scientist have attempted to map the location of these segmental duplications, but they run into issues of accurate sequencing within these duplication regions. (wikipedia.org)
Because of this, scientists share the sentiment that accurate human genome assembly is difficult due to these segmental duplications. (wikipedia.org)
Research has also found an increase of segmental duplications within regions of the CNPs showing that the duplications are responsible for the variation in copy number. (wikipedia.org)
Segmental duplications are also often themselves variant in copy number. (wikipedia.org)
Most human segmental duplications are less than 300 kb in length, whereas research has begun to show that other primates, such as the chimpanzee, contain more duplications. (wikipedia.org)
Segmental duplications have been hypothesized to be evolutionarily significant. (wikipedia.org)
From this, it has been observed that new-lineage segmental duplications map near shared ancestral duplications when comparing the human and chimpanzee. (wikipedia.org)
Segmental duplications found in primate genomes fall under one of three classifications. (wikipedia.org)
Segmental duplications in pericentromeric regions are unique in that around 30% of their sequence can be traced to duplications occurring from other chromosomes. (wikipedia.org)
The number of segmental duplications in pericentromeric regions is highly variable, having as few as zero. (wikipedia.org)
Twenty-nine of the forty-three pericentromeric regions have some form of segmental duplication totaling 47.6Mb, which is almost a third of all segmental duplications found in the human genome. (wikipedia.org)
However, also larger segmental duplications were frequent and occasionally we observed novel chromosomes. (wellnessresources.com)

Whole-genome duplication in plants: what is the pathway to success? (tepapa.govt.nz)
However, debate persists about whether whole genome duplication (polyploidy) is an evolutionary dead-end or a key process fostering diversification and expanded ecological tolerance in lineages. (tepapa.govt.nz)
19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)

Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)

Five pairs are acrocentric chromosomes and one pair is metacentric . (wikipedia.org)

A child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33/q22.31 was studied. (empiregenomics.com)

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)
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)
These changes involve a region of the long (q) arm of chromosome 7 containing the FOXP2 gene. (medlineplus.gov)
Some individuals with FOXP2 -related speech and language disorder have a deletion that removes a small segment of chromosome 7, including the FOXP2 gene and several neighboring genes. (medlineplus.gov)
It remains unclear how having two maternal copies of chromosome 7 affects the activity of the FOXP2 gene. (medlineplus.gov)
Studies carried out by scientists at IRIG, in collaboration with the University of Geneva, on the fruit fly model Drosophila melanogaster have revealed the role of Pcif1 in the control of gene expression, despite the fact that this protein has completely lost its RNA methyltransferase activity compared to its mammalian counterpart PCIF1. (cea.fr)
This study highlights an important contribution for Pcif1 in gene expression and physiology of the organism independently of any catalytic activity. (cea.fr)
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)
The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
Although the gene sequences were well conserved among different strains, their chromosome structures differed drastically. (wellnessresources.com)
This is the first study to show that gene expression changes in white blood cells of individuals with PWS and AS are related to these issues too. (eurekalert.org)
Further studies indicate that the CCND2 gene is present at chromosome band 12p13 and CCND2 is overexpressed in most GCTs, including CIS. (medscape.com)
A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
It is likely that chromosome 10p12.1-p13 may harbor a maturity-onset diabetes of the young or type 2 diabetes gene. (diabetesjournals.org)
One should distinguish "natural" antimicrobial drugs ated with chromosome replication, plasmid conjugation (e.g., kanamycin), which are produced by microorganisms with replicative transfer, and gene migration with replica- from the environment, from semisynthetic (e.g., amikacin) tive transposition (1). (cdc.gov)
In these networks, we study plant and insect trait evolution, and the role of trait diversification for gene flow and local adaptation. (lu.se)

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)

31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)
The 10 cases contained altogether 16 aberrations, with sizes ranging from 1.3 to 20.5 Mb, and they were located on 15 different chromosome arms. (bmj.com)

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)
In the case of doubtful results on conventional cytogenetic studies, comparative genomic hybridization could play a role. (nycu.edu.tw)
Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)

Additional features that are sometimes associated with FOXP2 -related speech and language disorder, including delayed motor development and autism spectrum disorders, likely result from changes to other genes on chromosome 7. (medlineplus.gov)
We also performed an MLPA HER2 assay that evaluates 22 genes on chromosome 17. (jcancer.org)

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)

Extra copies of several of these genes likely contribute to the characteristic features of 7q11.23 duplication syndrome. (medlineplus.gov)
People with maternal UPD for chromosome 7 have FOXP2 -related speech and language disorder as part of a larger condition called Russell-Silver syndrome (described below). (medlineplus.gov)
Mike Porath, editor-in-chief of Sphere.com, writes about his autistic daughter being diagnosed with Chromosome 15q Duplication Syndrome. (stephaniesarkis.com)
In most cases is associated with a microdeletion of chromosome 22 and less frequently with Down syndrome. (una.py)
Published in Translational Psychiatry , the study investigated three conditions caused by chromosome 15 alterations, and included 27 participants affected with PWS, 21 with AS and 10 with chromosome 15 duplication (Dup15q) syndrome. (eurekalert.org)
The study was conducted in collaboration with University of Kansas Medical Center PWS expert Professor of Psychiatry and Paediatrics Merlin Butler and his group, primarily supported by US-based Foundation for Prader-Willi Research (FPWR), Foundation for Angelman Syndrome Therapeutics (FAST) Australia and the Medical Research Future Fund. (eurekalert.org)
While the bulk of this project was focused on autism, this project began when Zylka and Yi noticed that a large number of Angelman syndrome-linked mutations were clustered in the same chromosome region where the phosphate group was tacked onto UBE3A. (neurosciencenews.com)
Individuals who carry an extra copy of the genetic region missing in those with Williams syndrome have language impairments and other autism-like social difficulties, according to a wave of new research on this duplication syndrome. (spectrumnews.org)
Last year, Van der Aa's team described 14 cases of the 7q11.23 duplication syndrome 1 , doubling the number of cases documented since 2005 2 . (spectrumnews.org)
Klinefelter syndrome is the presence of two or more X chromosomes plus one Y, resulting in a phenotypic male. (msdmanuals.com)
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: A nationwide cohort study. (msdmanuals.com)
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)

Separation of the two single strands leads to the build-up of superhelical tension, which, if left unresolved, exerts extreme forces in the form of torque that disrupts critical enzymatic events on chromosomes. (mpg.de)
In cells, this process is conducted by large macromolecular complexes, known as replisomes, that coordinate enzymatic events during chromosome duplication. (tum.de)

Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)

duplication of 7q11.23 cause a wide range of clinical manifestations that are hard to recognize before cytogenetic examination. (chromodisorder.org)
The cytogenetic study was performed in peripheral blood. (una.py)
This laboratory is a nationally approved cytogenetic laboratory for CALGB and COG studies. (wakehealth.edu)
G band cytogenetic analysis often leads to the discovery of unbalanced karyotypes that require further characterisation by molecular cytogenetic studies. (bmj.com)

This study reported the first case of T-ALL with TCR alpha/delta (TRA/D) locus rearrangements associated with t(11;14)(p13;q11.2), inv(14)(q11.2q32), and clonal evolution of JAK2 rearrangement. (empiregenomics.com)
Empire Genomics' RP11-451A20 FISH probe was used to confirm duplication and rearrangement of 3p. (empiregenomics.com)

BACs containing intrachromosomal duplications can be made and their duplication pattern can be characterized using FISH. (wikipedia.org)
The human genome contains around 130 regions, totaling 274Mb and ten percent of the total genome, that are flanked by these intrachromosomal duplications. (wikipedia.org)

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)
Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.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)
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)
At least three papers last summer dealt with the advantage of new technologies used to discover the extent to which these polymorphic rearrangements are duplications of genes found elsewhere in the genome. (the-scientist.com)
3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)

She had asked other genetics clinics in Europe to look out for 7q11.23 duplications after she saw two disparate cases: one child with autism-like features and another with epilepsy and moderate mental retardation. (spectrumnews.org)
Mervis was part of the team that in 2005 identified the first 7q11.23 duplication case. (spectrumnews.org)
Unlike those with autism, she adds, children with 7q11.23 duplications are skilled at pretend play and communicating with gestures . (spectrumnews.org)
There is extreme variability among individuals carrying the 7q11.23 duplication, which suggests that other genetic factors may modify symptom severity. (spectrumnews.org)

Carolina J. Jorgez, Ph.D., specializes in the study of the genetics of male infertility and the causes of congenital and acquired pediatric urologic diseases ranging from common defects such as cryptorchidism and hypospadias to rare ones such as bladder exstrophy. (bcm.edu)

Forsburg takes a holistic approach to studying how DNA replication stress contributes to genome stability. (usc.edu)
Studies the molecular mechanisms of DNA replication, recombination, and repair. (rockefeller.edu)
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)
These studies can be expected to provide new insights into eukaryotic replication, repair, and epigenetic inheritance. (rockefeller.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)
By reconstituting the S. Cerevisiae replication machinery at the single complex level we are able to study critical transient intermediates formed during chromatin replication. (mpg.de)
Resolution of superhelical tension is critical to ensure replication fork progression and avoid chromosome damage. (mpg.de)
During the spring of 1954, Meselson, a graduate student studying chemistry at Caltech, visited Delbrück´s office to discuss DNA replication. (asu.edu)

Hypotheses have been made suggesting that many CNPs are only prevalent within the human genome because of the absence or presence of the evolutionarily recent segmental duplication events that have not quite become fixed within the human population. (wikipedia.org)

Accurate duplication and segregation of our chromosomes is critical for human development and well-being. (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)
Thus, alternation of DNA duplication (S-phase) and chromosome segregation during the M-phase are hallmarks of most well studied eukaryotes. (ias.ac.in)
Several rounds of genome reduplication before chromosome segregation upsets this cycle and leads to polyploidy. (ias.ac.in)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.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)
Fission yeast is a simple, single-celled organism with chromosomes very similar to those in humans, and has proven to be an important model for cell division. (usc.edu)
Jure Piškur, together with a team of research colleagues, has studied the underlying reasons that this yeast can cause more and more infections in humans. (wellnessresources.com)

Many ferns and flowering plants have accumulated multiple sets of chromosomes from past hybridisation between species, or from genome duplication within species. (tepapa.govt.nz)
We discuss internal quality control measures, such as the mismatching of test and reference DNA in order to assess the quality of the competitive hybridisation effect on the X chromosome. (bmj.com)

Deletion or duplication of a small piece of chromosome at this site is one of the most common genetic causes of autism spectrum disorder. (rsna.org)
However, the subject also had additional features not reported in cases of 3p deletion or duplication, such as aortic dilation, hemangiomas, and neutropenia. (empiregenomics.com)
Not every person with a 17q12 deletion or duplication will experience the same symptoms, and some people may not notice obvious effects. (geisinger.edu)

The Lancet, a British medical journal, has retracted a 1998 study that linked vaccines to autism. (stephaniesarkis.com)
The purpose of the study was to determine safety and efficacy of Secretin versus placebo in the treatment of Autism symptoms. (stephaniesarkis.com)
Our study compared the prevalence of autism spectrum disorder (ASD) in children who were breastfed, given breast milk through a bottle (breast-milk fed), or formula-fed. (intechopen.com)
Genetic studies are showing that there will be about 1,000 genes linked to autism. (neurosciencenews.com)
It was previously thought that too much UBE3A might cause autism because duplication of the 15q chromosome region - which encompasses UBE3A and several other genes - is one of the most commonly seen genetic alterations in people with autism. (neurosciencenews.com)
duplications of the same region have been linked to autism. (spectrumnews.org)
In the past year, scientists have been finding that individuals carrying duplications of the same region also have some autism-like features. (spectrumnews.org)
Although experts disagree on the extent to which these symptoms mimic autism, the overlapping features in cases of both deletion and duplication may indicate problems with the same genes or regions of the brain, they say. (spectrumnews.org)
Because of the study design, however, Van der Aa does not know how different clinics assessed autism. (spectrumnews.org)
Her findings square with a 2007 study reporting that people with the duplication tend to be referred to a clinic for autism, but don't meet diagnostic criteria 3 . (spectrumnews.org)

Female polyploidy could not be detected, while polyploidies with Y chromosomes were suspected and confirmed through additional analysis. (nih.gov)

In the present study, we aim to determine the prevalence of BRAF V600E mutations in a series of ganglioglioma (GG) and pilocytic astrocytoma (PA) cases. (hindawi.com)
Prevalence Information of Chromosome 1q Duplication has not been added yet. (rareshare.org)

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

One distinguishing factor of primate genomes from other mammalian genomes is the abundance of interchromosomal and interspersed interchromosomal duplications. (wikipedia.org)
48% of human duplications can be termed as interchromosomal, versus 13% in mice. (wikipedia.org)

This led to issues of interpreting separate loci as one sequence as these duplications are over-represented in unordered and unassigned contigs. (wikipedia.org)
Ordering of 80 contigs along the deletion bins of chromosome arm 5DS revealed small-scale breaks in syntenic blocks. (biomedcentral.com)

Furthermore, these duplications are more prevalent within the pericentromeric and subtelomeric regions. (wikipedia.org)

However, when the levels of segmental duplication in primates are compared with other mammals, we see that primates on average contain more than the rest of the mammalian world. (wikipedia.org)

Cellular studies show the replisome is intimately involved with the inheritance of epigenetic information and cell fate, and the O'Donnell lab is working to understand the mechanistic details of these processes. (rockefeller.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)
Through the development of single-molecule imaging approaches, Prof. Duderstadt (b. 1982) investigates the dynamic events that ensure the coordination of chromosome duplication and studies the consequences of replisome encounters with obstacles on chromosomes. (tum.de)

Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
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)

Chromosomes were processed with conventional staining techniques, centromeric and high-resolution bands, showing 11q duplication. (una.py)

Children and adults who have a 17q12 deletion are missing a small section of genetic material from one copy of their number 17 chromosomes, while those with a 17q12 duplication have an extra section of genetic material in the same region. (geisinger.edu)

Many of these contain duplications that vary in the number of times and ways they are repeated: tandemly, at distal parts of the same chromosome, or even on other chromosomes. (the-scientist.com)

This phenomenon is known as duplication shadowing and it suggests that unique regions flanking duplications are about ten times as likely to become duplicated as other randomly duplicated regions. (wikipedia.org)
This study now suggests this may also be the case in chromosome 15-related conditions. (eurekalert.org)
The study suggests the possibility of using trans-vaccenic acid found in red meat and dairy products as a nutritional supplement to complement treatments for cancer. (medicaldaily.com)

The researchers at UCSF and four other sites performed structural MRI exams on 79 deletion carriers, ranging in age from 1 to 48, and 79 duplication carriers, ages 1 to 63, along with 64 unaffected family members and 109 participants in a control group. (rsna.org)

Access the study, "Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. (rsna.org)
Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure]. (cdc.gov)

This study demonstrates the importance to not restrict the function of enzymes to their sole catalytic role in the living world and the interest of thoroughly examining the evolution of proteins in eukaryotes in order to discover unsuspected or hidden mechanisms of action. (cea.fr)

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)

Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Researchers are studying genes whose functions suggest that they might be related to particular features. (medlineplus.gov)
However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. (rareshare.org)

In addition to routine chromosome analysis, we perform high-resolution and specialized banding techniques. (wakehealth.edu)

I study these processes in the field, in the greenhouse, and through comparative (meta-)analyses. (lu.se)

CGH has been widely applied to detect gains and losses of DNA sequences on specific chromosomes in the study of solid tumours, 1 but has not been extensively used to study unbalanced constitutional karyotypes. (bmj.com)

Our study found that BRAF V600E mutations are moderately frequent in PA and GG and that for these tumor entities, IHC VE1 is suitable for screening purposes, but all negative, equivocal, and weak positive cases should be further tested with molecular biology techniques, of which the Idylla system seems to be a promising tool. (hindawi.com)
Our vision is to use these studies to develop a general framework for understanding how networks of intra- and inter-molecular interactions can evolve to guide dynamic events within multiprotein complexes. (mpg.de)

Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
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)

Chromosome 7 spans about 159 million DNA building blocks (base pairs) and represents more than 5 percent of the total DNA in cells. (medlineplus.gov)

To examine the involvement of executioner caspases in hyperthermia-induced cell-death in a poikilotherm vertebrate species, five genes encoding caspase-3,-6, and -7 were cloned from Atlantic salmon, and the expression was studied in thermal stressed salmon embryos. (nofima.no)
In this study, we developed microsatellite markers for nine endangered amphibian species endemic to Ryukyu Islands in Japan. (nii.ac.jp)
Currently, my main research activities include studies of mating-system and floral evolution in the neotropical vine Dalechampia, and studies of the role of species interactions in structuring the spatial and temporal dynamics of communities. (lu.se)
Therefore, our study systems often include multiple plant- and insect species that form small interaction networks. (lu.se)

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

Deletions and duplications5

Abnormalities21

Chromosomal15

AneUploidy1

Translocation6

Segmental duplications14

Whole genome3

Translocations1

Acrocentric chromosomes1

Interstitial1

Gene16

Homologous2

Aberrations2

Genomic3

Genes on chromosome2

Large chromosome1

Syndrome12

Enzymatic events2

Constitutional chromosome1

Cytogenetic4

Rearrangement2

Intrachromosomal2

Disorders4

Rearrangements5

7q11.234

Genetics1

Replication9

Human genome1

Segregation4

Humans4

Hybridisation2

Deletion or duplication3

Autism10

Polyploidy1

Prevalence2

Mutation1

Interchromosomal2

Contigs2

Subtelomeric1

Mammalian1

Replisome3

Organization3

Conventional staining t1

Genetic material1

Distal1

Suggests3

Structural1

Copy-number va2

Eukaryotes1

Cancer3

Researchers3

Routine1

Comparative1

Sequences1

Molecular2

Copies2

Pairs1

Species4