Chromosomes karyotype. Medical search. Frequent questions

structural chromosome abnormalities. (truemedix.in)
It is useful for the identification of structural abnormalities through the photographic representation of the entire chromosome complement. (creative-bioarray.com)
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)
Karyotypes have been used for several decades to identify chromosomal abnormalities in both germline and cancer cells. (wikipedia.org)
Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
We present here the clinical findings and a fine mapping of the associated structural chromosome abnormalities. (lu.se)
As with other genetic abnormalities, definite diagnosis is only confirmed via karyotyping 1-3 . (bvsalud.org)
Secondary chromosome abnormalities were found in 62% of the cases, most often loss of a sex chromosome. (lu.se)

Identification of individual chromosomes in a complement is usually a difficult task in the case of most plant species, especially for those with small, numerous, and morphologically uniform chromosomes. (nih.gov)
In this paper we show that the replication kinetics of individual chromosomes can be estimated by bivariate flow cytometric analysis of chromosomes isolated from 5‐bromo‐2′‐deoxyuridine (BrdUrd) treated cells. (elsevierpure.com)
The main part deals with examples of modern FISH-applications, highlighting unique possibilities of the approach, like the possibility to study individual cells and even individual chromosomes. (frontiersin.org)

G-banding is a technique used in cytogenetics to produce a visible karyotype by staining condensed chromosomes. (creative-bioarray.com)
Virtual karyotypes have dramatically higher resolution than conventional cytogenetics. (wikipedia.org)
This is approximately 1000-fold greater resolution than karyotypes obtained from conventional cytogenetics. (wikipedia.org)
A questionnaire sent to major cytogenetics laboratories in the United States and Canada over a 10-year period collected data on the frequency and outcome of cases with either apparently balanced de novo rearrangements or de novo supernumerary marker chromosomes detected at amniocentesis. (nih.gov)
The rapid progress in plant comparative genomics and cytogenetics brings new insights into the evolutionary fate of centromeres and mechanisms of chromosome number reduction (descending dysploidy). (muni.cz)

Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)

Determination of number/position of chromosome-sized bands and chromosomal DNA locations of housekeeping genes were the two criteria used for differentiating and classifying the Leishmania species. (fiocruz.br)
Clear differences between the Old and New world groups of parasites or among some New World Leishmania species were also apparent in relation to the chromosome locations of beta-tubulin genes. (fiocruz.br)
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 2 likely contains 1,200 to 1,300 genes that provide instructions for making proteins. (medlineplus.gov)
It is also unknown whether the loss or gain of other genes in chromosome 2 deletions or duplications contribute to the features of MAND. (medlineplus.gov)
Lighter bands on chromosomes called euchromatin where genes are expressed. (mindmeister.com)
Distribution and expression of the genes on chromosome 1. (nature.com)
indeed, of the two sex chromosomes--XY--which would be found in the genes of a typical male, and XX, which is the hallmark of the genetically typical female--my partner's DNA has all three: XXY, a pattern that is simultaneously male, female, and neither. (beacon.org)
Here, we provide the first cytogenetic information on the species based on both conventional karyotyping and chromosomal mapping of 45S and 5S ribosomal genes through fluorescence in situ hybridization (FISH). (scielo.br)
Both classes of ribosomal genes appeared to be spread out to multiple chromosomal locations, i.e. the 45S and 5S rDNA clusters were detected on six and seven chromosome pairs, respectively. (scielo.br)
Genes Chromosomes Cancer 2006(4): 375-82 [ PubMed abstract ]. (lu.se)

Apart from conventional karyotyping, we can also provide Karyotyping of human chromosomes, mouse chromosomes by multicolor FISH probes . (creative-bioarray.com)

In this paper, we demonstrate that the landmarks produced by cross-species fluorescence in situ hybridisation (FISH) of Brachypodium distachyon derived bacterial artificial chromosome (BAC) clones can be used for discrimination of Brachypodium pinnatum (2n = 18) chromosomes. (nih.gov)
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)
Labeling cells with BrdUrd for 2, 2 1/2, 3, 3 1/2, and 4 hours before chromosome isolation resulted in progressive quenching of the HO fluorescence of chromosomes Y and 10, 11, M2 while the HO fluorescence of all other chromosomes was either not quenched or was only slightly quenched. (elsevierpure.com)
The CA3 fluorescence of all chromosomes was slightly enhanced by BrdUrd treatment. (elsevierpure.com)
Routine G-banded karyotype, array-based comparative genomic hybridization, and fluorescence in situ hybridization analyses were used to characterize the cytogenetic abnormality in the patient's bone marrow. (hindawi.com)
This case study reports a rare double minute chromosome via FLT3 amplification in CMML by using array-based comparative genomic hybridization and fluorescence in situ hybridization analyses. (hindawi.com)

Chromosome analysis helps in the diagnosis of a wide variety of congenital conditions. (truemedix.in)
CMA offers the highest diagnostic yield (approximately 15-20%) in individuals with unexplained DD/ID, ASD, and multiple congenital anomalies (MCAs) and is preferred to chromosome analysis (karyotyping). (arupconsult.com)
In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)

An abnormal karyotype was identified involving the long arm of chromosome 11. (lu.se)
The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). (bvsalud.org)

pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (cdc.gov)

and fluorescent in, situ hybridization (FISH) to metaphase chromosomes revealed an insertion of part of chromosome 16 on chromosome 11. (lu.se)

It detects genomic copy number variations at a higher resolution for level than conventional karyotyping or chromosome-based comparative genomic hybridization (CGH). (wikipedia.org)
Conventional karyotypes can assess the entire genome for changes in chromosome structure and number, but the resolution is relatively coarse, with a detection limit of 5-10Mb. (wikipedia.org)
Centromere loss and relocation in chromosome regions with otherwise conserved collinearity can be explained by conventional mechanisms of chromosome rearrangements or, as newly available phylogenomic and cytogenomic data suggest, by centromere inactivation through epigenetic chromatin modifications and/or intra-and inter-chromosomal recombination. (muni.cz)
A large deletion several megabases (Mb) in length, easily detected using conventional chromosome analysis, is usually associated with severe phenotypic expression, including multiple malformations. (medscape.com)

In patients with abnormal karyotype ( n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. (who.int)

Analysis of the morphometric features of B. pinnatum chromosomes was performed to establish their total length, the position of centromeres, and the position of BAC-based landmarks in relation to the centromere, thereby enabling their effective karyotyping, which is a prerequisite for more complex study of the grass genome structure and evolution at the cytomolecular level. (nih.gov)
Virtual karyotype is the digital information reflecting a karyotype, resulting from the analysis of short sequences of DNA from specific loci all over the genome, which are isolated and enumerated. (wikipedia.org)
Fig. 4: Single-cell genome sequencing reveals karyotype heterogeneity in tumor PDOs. (nature.com)
This whole package of DNA (genome) and protein (epigenome) in a chromosome is what controls the development and maintenance of eukaryotic organisms (protists, fungi, animals, and plants). (carnivorousplants.org)
The more similar the chromosomes (the genome and epigenome as well as chromosome number) the more likely hybrids will form and reproduce but also the more likely the net result will only be the introgression of genetic material from one species to the other. (carnivorousplants.org)
The genome was confirmed to comprise eight chromosomes (chromosomes 1-8 in decreasing size), the assignment of which is different from a previous report 7 ( Supplementary Table S1 and schematic drawing in Supplementary Fig. S1 ). (nature.com)
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)

Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)
May have trisomy of other chromosomes, eg. (mindmeister.com)

These chromosomes are organized into pairs, with each pair consisting of two homologous chromosomes. (proprofs.com)
Which of the following statements are true about the homologous chromosomes of a pair? (khanacademy.org)

Also called karyotype analysis, this test is used to confirm a diagnosis of Klinefelter syndrome. (mayoclinic.org)
Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. (mayoclinic.org)

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. (medscape.com)
[ 1 ] They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. (medscape.com)
Wolf-Hirschhorn syndrome results from the deletion of the distal short arm of chromosome 4. (medscape.com)

Human beings are diploid, so a normal copy number is always two for the non-sex chromosomes. (wikipedia.org)
The presence of 2n=56 chromosomes in T. diabolus is an interesting characteristic since until now all cis-Andean species karyotyped presented 2n=54 chromosomes while almost all trans-Andean species presented different diploid numbers. (scielo.br)

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)

A karyotype (Fig 1) is the characteristic chromosome complement of a eukaryote species. (wikipedia.org)
We analyzed the chromosome complement of a fibroblast culture and did histological examinations of testicular tissue from a tortoiseshell male cat referred to us. (karger.com)
As no sign of spermatogenesis was detected, we conclude that this is a classic case of a sterile, male tortoiseshell cat with a 39,XXY chromosome complement. (karger.com)

Metaphase nuclei harvest and chromosome count. (creative-bioarray.com)

The output of enhancement method will be compared with result of Professional software for karyotyping analysis named Ikaros MetasystemT M . Based on experimental results, HE+BM3D method gets a stable result on both scenario noised and blur image. (neliti.com)
Creative Bioarray has performed many karyotyping (banded chromosome analysis) services for cell line authentication and some specific research. (creative-bioarray.com)
We have broad expertise in banded chromosome analysis for a wide variety of mammalian species (human, mouse, rat, cow, hamsters, dog, etc.), and our experience includes analysis of live animals and established adult and embryonic stem cell lines. (creative-bioarray.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)
Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
The diagnostic yield varies by patient population and the presence of comorbidities, but is estimated to be approximately 15-20% (approximately 10% higher than the detection rate by karyotype analysis in the DD/ID/ASD population). (arupconsult.com)
Karyotype analysis was performed by the G-banding technique. (hindawi.com)
Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. (karger.com)

Other changes in chromosome 4 can involve a ring structure or translocation. (medscape.com)

Chromosome segregation errors cause aneuploidy and genomic heterogeneity, which are hallmarks of cancer in humans. (nature.com)
We conclude that ongoing CIN is common in colorectal cancer organoids, and propose that CIN levels and the tolerance for mitotic errors shape aneuploidy landscapes and karyotype heterogeneity. (nature.com)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
Fig. 1: Live imaging of chromosome segregation errors in PDOs. (nature.com)
Functional centromeres, ensuring regular chromosome segregation in mitosis and meiosis, are a prerequisite for the evolutionary success of pre-existing and new chromosome variants. (muni.cz)

Two copies of chromosome 2, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 2. (medlineplus.gov)
Both copies of chromosome 2 missing in each cell. (sigmaaldrich.com)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes. (proprofs.com)

[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)
The species exhibited 2n=56 chromosomes (42 metacentrics, 12 submetacentrics and 2 subtelocentrics) and the nucleolus organizing region located near to the centromere on the long arm of the largest metacentric pair. (scielo.br)

Factors involved in prediction of prognosis include the extent of the deletion, the occurrence of complex chromosome anomalies, and the severity of seizures. (medscape.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)

The risk of abnormality for extra nonsatellited marker chromosomes was 14.7% (n = 68), and that for satellited marker chromosomes was 10.9% (n = 55). (nih.gov)

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)
Some tests look for changes in chromosomes rather than gene changes. (cdc.gov)
Double minute chromosomes (dmins) are a form of gene amplification presenting as small spherical paired chromatin bodies. (hindawi.com)
The current study attempts to demonstrate the existence of double minute chromosomes via FLT3 gene amplification in a patient diagnosed with chronic myelomonocytic leukemia (CMML). (hindawi.com)
Double minute chromosomes (dmins) are cytogenetic indicators of extrachromosomal gene amplification which usually act as small spherical paired chromatin particles [ 1 ]. (hindawi.com)
He suggested to introduce the term chromosomics being equal to cytogenomics to bring the three-dimensional morphologically of chromosomes into the focus of research, as this is essential for gene regulation. (frontiersin.org)
Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
With students, empirical studies have been made on karyotype evolution in shrews, recombination rates in barley, partial asexual reproduction in plants, and a horizontal gene transfer between two grass species. (lu.se)

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies. (lu.se)

The molecular karyotypes for 20 reference strains of species complexes of Leishmania were determined by contour-clamped homogeneous electric field (CHEF) electrophoresis. (fiocruz.br)
Although each stock had a distinct karyotype, in general the differences found between strains and/or species within each complex were not clear enough for parasite identification. (fiocruz.br)
Chromosome number could be but is not considered a defining attribute of a taxonomic species. (carnivorousplants.org)
Chromosome number is not an effective feature in the definition of biological species either although differences in chromosome number can produce different biological species. (carnivorousplants.org)
In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and the genetic material they contain that define true species and control the evolution of new species. (carnivorousplants.org)
Drosera can have anywhere from 8 to 80 chromosomes depending on the species. (carnivorousplants.org)
There are two factors related to chromosomes and species that work separately and together to make life interesting. (carnivorousplants.org)

citation needed] Virtual karyotypes can be performed on germline samples for constitutional disorders, and clinical testing is available from dozens of CLIA certified laboratories (genetests.org). (wikipedia.org)
Twenty-nine consecutive cases with a t(8;21)(q22;q22) in the bone marrow (BM) karyotype were retrospectively studied concerning clinical, morphological and cytogenetic data. (lu.se)

Other terms used to describe the arrays used for karyotyping include SOMA (SNP oligonucleotide microarrays) and CMA (chromosome microarray). (wikipedia.org)
Examples of these tests are karyotype and chromosomal microarrays. (cdc.gov)

This particular genetic pattern, XXY, is the signature of kleinfelter syndrome, one of the most common sex-chromosome anomalies. (beacon.org)

How Are Karyotypes Used to Diagnose Genetic Disorders? (biologycorner.com)
Here's a collection of activities that can help students learn how to analyze karyotypes and diagnose disorders. (biologycorner.com)

Mechanisms of accumulation based on typical centromeric drive or of chromosomes carrying pericentric inversions are adjusted to the general karyotype differentiation in the principal Actinopterygii orders. (geneconvenevi.org)

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
2q37 deletion syndrome is caused by a deletion of genetic material near the end of the long (q) arm of chromosome 2, at a location designated 2q37. (medlineplus.gov)

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)
It was not until the early 20 th century that it was demonstrated that chromosomes contain the material of hereditary and it took until the middle 20 th century to determine that DNA in chromosomes was the principle coding molecule of heredity. (carnivorousplants.org)

The main methods used for creating virtual karyotypes are array-comparative genomic hybridization and SNP arrays. (wikipedia.org)
citation needed] Recently, platforms for generating high-resolution karyotypes in silico from disrupted DNA have emerged, such as array comparative genomic hybridization (arrayCGH) and SNP arrays. (wikipedia.org)
The more different the chromosomes of the hybrids are the more likely hybridization will result in a speciation event. (carnivorousplants.org)

The end product does not yet have a consistent name, and has been called virtual karyotyping, digital karyotyping, molecular allelokaryotyping, and molecular karyotyping. (wikipedia.org)
Here especially highlighted variations of FISH are molecular combing, chromosome orientation-FISH (CO-FISH), telomere-FISH, parental origin determination FISH (POD-FISH), FISH to resolve the nuclear architecture, multicolor-FISH (mFISH) approaches, among other applied in chromoanagenesis studies, Comet-FISH, and CRISPR-mediated FISH-applications. (frontiersin.org)

Nondisjunction in meiosis can lead to an abnormal number of chromosomes in the resulting cells, which is the cause of Down syndrome, Turner's syndrome, and Klinefelter's syndrome. (proprofs.com)

Fig. 6: In vitro karyotype evolution of tumor PDO 16T. (nature.com)
If you already know about chromosomal evolution or do not care, jump directly to information on Drosera chromosome numbers. (carnivorousplants.org)
My thesis (Oxford 1974) discussed chromosome evolution in mammals, and since then I have studied a large number of different phenomena. (lu.se)

Loss (deletion) or gain (duplication) of a small piece of chromosome 2 at position q23.1 can cause MBD5 -associated neurodevelopmental disorder (MAND). (medlineplus.gov)
G-banded karyotype showing deletion of 4p, derived from the mother, with balanced translocation (4p;8p). (medscape.com)

Chromosomes were isolated from the Colcemid blocked mitotic cells and stained with Hoechst 33258 (HO) and chromomycin A3 (CA3). (elsevierpure.com)

Drosera paleacea , a pygmy Drosera with the lowest number of chromosomes in the genus. (carnivorousplants.org)

Chromosomes are normally visible under a light microscope only during the metaphase of cell division (where all chromosomes are aligned in the center of the cell in their condensed form). (wikipedia.org)
in many cases, XXY individuals do not find out about their chromosomal anomaly unless they try to have children and end up seeing a fertility doctor, who ultimately orders an image called a karyotype, essentially a photo of the person's chromosomes made with a very powerful microscope. (beacon.org)

In non-Robertsonian rearrangements, distribution of breakpoints among chromosomes was not as would be expected strictly on the basis of length. (nih.gov)

Despite the diversity of platforms, ultimately they all use genomic DNA from disrupted cells to recreate a high resolution karyotype in silico. (wikipedia.org)

Chromosome 2 deletions or duplications that cause MAND lead to an abnormal amount of MBD5 protein. (medlineplus.gov)

Further, arrays used for karyotyping may use non-polymorphic probes, polymorphic probes (i.e. (wikipedia.org)
Chromosomes were polymorphic in number (22-30) and size (200-2,500 kb) of bands among members of five complexes of Leishmania. (fiocruz.br)

And please note that for cancer cells and in any cases where very complex, unstable karyotypes are observed. (creative-bioarray.com)

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)

These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)

A karyotype should be performed as a part of the routine evaluation after the diagnosis of primary ovarian insufficiency is established. (medscape.com)

Pentasomy of the x chromosome is a rare syndrome of unknown incidence and there are few reports in the scientific literature, especially in terms of dental care for patients with this syndrome. (bvsalud.org)

We have established two gel running conditions for optimal separation of chromosomes, which resolved DNA molecules as large as 2,500 kilobase pairs (kb). (fiocruz.br)

It is a rare recessive genetic disorder linked to the X chromosome that results in different mutations in the androgen receptor. (bvsalud.org)

The core phenotype maps within the terminal 1.9 Mb region of chromosome 4p. (medscape.com)

Anatomy68

Organisms8

Diseases46

Chemicals and Drugs23

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Psychiatry and Psychology2

Phenomena and Processes161

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Named Groups1

Health Care1

Abnormalities9

Individual chromosomes3

Cytogenetics5

Aberrations1

Genes12

Human chromosomes1

Fluorescence6

Congenital3

Long arm of chromosome2

Pair of sex chromosomes1

Metaphase chromosomes1

Conventional4

Abnormal karyotype1

Genome7

Trisomy2

Homologous chromosomes2

Klinefelter2

Short arm of chromosome3

Diploid2

Microscopy1

Complement3

Nuclei1

Analysis8

Changes in chromosome1

Aneuploidy2

Segregation3

Copies of chromosome3

Humans2

Centromere2

Complex chromosome2

Abnormality1

Gene8

Myeloid1

Species7

Clinical2

Microarrays2

Anomalies1

Disorders2

Inversions1

Genetic material2

Heredity2

Hybridization3

Molecular2

Meiosis1

Evolution3

Deletion2

Hoechst1

Genus1

Microscope2

Rearrangements1

Genomic1

Deletions1

Polymorphic2

Unstable1

Tumor1

Specimens1

Diagnosis1

Incidence1

2,5001

Mutations1

Phenotype1