Chromosomal karyotyping. Medical search. Frequent questions

We have developed a strategy to screen for the abnormal inheritance of subtelomeric DNA polymorphisms in individuals with mental retardation and have detected three abnormalities in 99 patients with normal routine karyotypes. (nih.gov)
At least 6% of unexplained mental retardation is accounted for by these relatively small chromosomal abnormalities, which will be an important resource in the characterization of the genetic basis of neurodevelopment. (nih.gov)
These drugs are associated with a high prevalence of chromosomal abnormalities in bone marrow-in particular, the -5, del(5q), -7, del(q) and complex karyotype. (medscape.com)
More recently Prenatal Chromosomal Microarray (CMA) has been used to look for fetal chromosomal abnormalities. (bham.ac.uk)
The use of karyotyping to determine genetic defects is highly accurate for determining chromosomal abnormalities in individuals and prenatal fetuses. (genengnews.com)
Earlier PND of chromosomal abnormalities, at about 10 weeks of gestation, is available through the use of CVS. (aao.org)
Fetuses with chromosomal abnormalities, said by Widya, usually also have abnormalities in other organs. (ugm.ac.id)
Disorders of sexual development (DSD), formerly termed 'intersex', are congenital abnormalities in the development of chromosomal (abnormalities in XX or XY sex chromosome number or structure), gonadal (testicular, ovarian and ovotesticular DSD, previously termed true hermaphrodite, or dysgenesis) or phenotypic (male or female with abnormalities of tubular and external genitalia) sex. (scielo.org.za)
Turner syndrome, one of the most common chromosomal abnormalities, occurs when there is a complete or partial absence of one sex chromosome in a female. (gponline.com)
Chromosomal abnormalities cause various disorders. (msdmanuals.com)
Chromosomal abnormalities fit into several categories but broadly may be considered as numerical or structural. (msdmanuals.com)
The chromosomal abnormalities commonly involve the MLL gene (11q23). (medscape.com)
Examples cited include prenatal screening for congenital malformations and chromosomal abnormalities, neonatal screening for phenylketonuria, hypothyroidism and sickle-cell disease, and population screening for carriers of inherited diseases such as the haemoglobin disorders and Tay-Sachs disease. (who.int)
Techniques discussed include the use of ultrasound scanning and maternal serum alpha-fetoprotein estimation in screening for congenital malformations, the use of karyotyping to detect chromosomal abnormalities during pregnancy, and DNA methods for carrier diagnosis and prenatal diagnosis. (who.int)
Classification of Diseases Tenth Revision (ICD10), congenital anomalies include congenital malformations, deformations and chromosomal abnormalities, but exclude inborn errors of metabolism. (who.int)

Here, we studied male meiotic chromosome behavior in four hybrid generations (F1-F4) between two chromosomal races of the Wood White butterfly Leptidea sinapis differentiated by at least 24 chromosomal fusions/fissions. (frontiersin.org)
We argue that the observed process of chromosome sorting would, if continued, result in a new homozygous chromosomal race, i.e., in a new karyotype with intermediate chromosome number and, possibly, in a new incipient homoploid hybrid species. (frontiersin.org)
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. (wikipedia.org)
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 a recent survey on cytogenetic studies of Chilean fishes, 27 species were registered with data on chromosome number, karyotype morphology and/or nuclear DNA content (García 2010). (scielo.cl)
Marrow karyotype revealed a clonal chromosomal abnormality which included trisomy 8 and absence of the Y chromosome. (karger.com)
Discovering anomalies in chromosomes, such as a missing copy of a chromosome or duplicate copies, was helped by the invention of karyotyping techniques that allow paired human chromosomes to be easily stained, arranged, and visualized. (ashg.org)
Chromosomal conditions such as Down syndrome, where an individual has an extra copy of chromosome 21, were initially discovered through karyotyping. (ashg.org)
Whole chromosome painting by FISH analysis corroborated the reciprocal nature of the chromosomal exchanges between the Y chromosome and SSC13. (karger.com)
Because the chromosomal t(14;18) translocation is found in the majority of patients with follicular lymphoma, bone marrow aspiration and chromosome analysis can also help establish the diagnosis. (medscape.com)
Aneuploidy: The most common chromosomal abnormality caused by an extra or missing chromosome. (msdmanuals.com)
Spectral karyotyping analysis (also called chromosome painting) uses chromosome-specific multicolor fluorescent in situ hybridization (FISH) techniques that improve the visibility of certain defects, including translocations and inversions. (msdmanuals.com)
Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)
The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). (bvsalud.org)
This chromosomal alteration only affects female individuals, who have monosomy of the X chromosome. (bvsalud.org)

The abnormality was detected by performing chromosomal studies on peripheral blood, with conventional staining techniques. (bvsalud.org)

However, some species, especially plants and animals with holocentric chromosomes, are known to tolerate chromosomal heterozygosity even for multiple rearrangements. (frontiersin.org)
In order to gain further insight into the molecular mechanisms responsible for the karyotypic variability, we examined the chromosomal constitution of a strain known to possess aberrant chromosomes. (pasteur.fr)
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)
Among the analyzed specimens, a large degree of cytogenetic variation related to diploid numbers and karyotype structure was observed, with karyotypes showing 2n=42, 44 and 46 chromosomes. (scielo.br)
Also, the analyses indicate that chromosomal rearrangements occurred independently within the distinct lineages of S . marmoratus complex, which resulted in the appearance of distinct karyotypic variants in a non-linear fashion related to diploid numbers and in the appearance of similar non-homologous chromosomes. (scielo.br)
Almost all chromosomes present C-bands in one or both chromosomal ends. (cdc.gov)
Fetal chromosomes are examined conventionally by G-band karyotyping. (bham.ac.uk)
We also identify multiple cases of catastrophic chromosomal rearrangements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakpoints and 60.6 Mb across four chromosomes, further defining rare categories of extreme cxSV. (biomedcentral.com)
L'hybridation fluorescente in situ (FISH) est une technique qui permet des séquences d'ADN spécifiques à détecter sur les chromosomes en métaphase ou en interphase en 1 noyaux des cellules. (jove.com)
En règle générale, un test FISH unique examine seulement un ou quelques chromosomes entiersou des loci spécifiques par diapositive, etc hybridations multiples doivent être menées sur plusieurs diapositives pour couvrir l'ensemble des chromosomes humains. (jove.com)
En outre, les changements numériques (aneuploïdie) dans les chromosomes peuvent être détectés simultanément. (jove.com)
In the process, chromosomal fusions occurred in the equidae, causing karyotypes to evolve that range from 66 to 32 chromosomes, whilst preserving the same amount of DNA. (ivis.org)
Beginning in the 1950s, researchers first used a molecular technique called karyotyping to visualize human chromosomes and their differences linked to conditions such as Down syndrome. (ashg.org)
Karyotype: The full set of chromosomes in a person's cells. (msdmanuals.com)
A karyotype analysis involves blocking cells in mitosis during metaphase and staining the condensed chromosomes. (msdmanuals.com)
Chromosomes from single cells are photographed, and their images are arranged, forming a karyotype. (msdmanuals.com)
The chromosomes are less condensed than in routine metaphase analysis, and the number of identifiable bands is expanded, allowing a more sensitive karyotype analysis. (msdmanuals.com)

LB-S performed the chromosomal microarray analysis. (bmj.com)

They will explore how scientists use karyotyping to detect chromosomal errors associated with cancer and other diseases. (flinnsci.com)

Biochemical and chromosomal tests vary in terms of quality and usefulness in diagnosing defects in an individual's genetic make-up. (genengnews.com)
Genotype: The genetic constitution determined by the karyotype. (msdmanuals.com)
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)

In culture, cells from affected individuals exhibit elevated rates of chromosomal breakage or instability, leading to chromosomal rearrangements. (medscape.com)

A persistent high frequency of these errors (chromosomal instability (CIN)) is predicted to profoundly impact tumor evolution and therapy response. (nature.com)
Background Chromosomal instability, as reflected by structural or copy-number changes, is a known cancer characteristic but are rarely observed in healthy tissue. (bmj.com)
Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)

As the symptoms of trisomy X are often not serious enough to prompt a karyotype test, many cases of trisomy X are diagnosed before birth via prenatal screening tests such as amniocentesis. (wikipedia.org)

To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation. (nih.gov)
In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. (nih.gov)
99% of fetuses with 45X karyotype spontaneously abort. (gponline.com)
Karyotyping of cells obtained by either amniocentesis or CVS is the standard and definitive means of diagnosing aneuploidy in fetuses. (cdc.gov)

Students assemble a paper karyotype with a chromosomal error and compare it to a normal karyotype. (flinnsci.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)

Karyotyping is needed for the diagnosis to be made. (gponline.com)
The value set contains the list of values that indicate whether the newborn/fetus is confirmed or pending if there is a diagnosis of suspected chromosomal disorder (may include Trisomy 21). (cdc.gov)

The first part summarizes and interprets current medical knowledge about the causes, mode of inheritance, prevalence, management, and possibilities for prevention of congenital malformations, chromosomal disorders, and Mendelian (single-gene) disorders. (who.int)

In normal conventional meiosis, the first meiotic division is reductional, resulting in segregation of chromosomal homologs, whereas the second meiotic division is equational, resulting in separation of sister chromatids. (frontiersin.org)

most practicing physicians may never see a patient with a chromosomal breakage syndrome. (medscape.com)
Turner's syndrome corresponds to one of the chromosomal disorders, not inheritable, with the highest population incidence. (bvsalud.org)

Heterozygotes for major chromosomal rearrangements such as fusions and fissions are expected to display a high level of sterility due to problems during meiosis. (frontiersin.org)

p.Gly167Arg and exhibited multiple different chromosomal translocations in 30%-60% peripheral blood lymphocytes. (bmj.com)
Conclusions The multiple chromosomal translocations in patient lymphocytes highlight the role of CHK2 in DNA repair. (bmj.com)
Multiple Ty-mediated chromosomal translocations lead to karyotype changes in a wine strain of Saccharomyces cerevisiae. (pasteur.fr)
The evidence for multiple translocations mediated by Ty elements in a single strain suggests that spontaneous Ty-driven rearrangement could be quite common and may play a major role in the alteration of karyotypes in natural and industrial yeasts. (pasteur.fr)
The chromosomal localization of genes was improved, and Human Genome Variation Society (HGVS) notation was used throughout for translocations, insertions, and other gene alterations. (who.int)

NM and LB-S performed the karyotype analyses and interpreted karyotyping results. (bmj.com)

The blood test for fetal chromosomal karyotyping is to ensure positive trisomy 21 or not. (ugm.ac.id)

Chromosomal microarray (CMA) is the recommended first-tier diagnostic test for patients with developmental delay (DD), intellectual disability (ID), or autism spectrum disorders (ASDs) of unknown etiology. (arupconsult.com)

Even a single heterozygous chromosomal rearrangement, such as a reciprocal translocation or chromosomal fusion, is expected to result in 50% reduction of fertility ( King, 1993 ). (frontiersin.org)

Chromosomal microarray (CMA, also referred to as cytogenomic single nucleotide polymorphism [SNP] microarray) is the recommended first-line test for DD/ID or ASD of unknown etiology. (arupconsult.com)

In addition, using sequences of three mitochondrial genes, the phylogenetic relationships between every sample with a known karyotype were determined, which revealed significant nucleotide divergence among the karyomorphs. (scielo.br)

Objective To clinically characterise and genetically diagnose two reportedly unrelated patients with unique cancer syndromes, including multiorgan tumourogenesis (patient 1) and early-onset acute myeloid leukaemia (patient 2), both displaying unique peripheral blood karyotypes. (bmj.com)
Karyotype analysis was performed on peripheral blood, bone marrow and other available tissues. (bmj.com)

The 60K sub-cohort noted an extra 4.8% pathogenic chromosomal anomalies but, in addition, a 13% increase in VOUS. (bham.ac.uk)

The system enables users to locate images of interest by taxa, and to display the document with detailed information on species names, authors, year of the species publication, and karyotypes pictures in different colorations. (altmetric.com)
CIPEMAB has a wide range of applications, such as comparing various karyotypes of Brazilian species and identifying manuscripts of interest. (altmetric.com)
Within each species, the subspecies share numerous morphologic features as well as chromosomal karyotype. (efloras.org)

However, an alteration of cortisol slope with high evening values was observed in every participant, independent from the stage of pubertal development, their karyotype and the hormonal treatment they have received at the time of the study. (bvsalud.org)

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)

Patients with complex karyotypes constitute 30% of primary MDS cases (only 20% of de novo AML) and up to 50% of therapy-related MDS and AML cases. (medscape.com)
Inability to karyotype some cases at high-risk for SCA, due to patients' choice, and the occurrence of miscarriages and terminations, resulted in the exclusion of high-risk cases when calculating PPV. (medscape.com)

In fetal megacystis with longitudinal bladder diameter of 7-15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. (nih.gov)

It is then cultured and karyotyped in a manner similar to that used for amniocentesis. (aao.org)

Chromosomal analysis confirmed a normal female karyotype 46 XX. (bmj.com)

Chromosomal heterozygosity leads to the formation of multivalents (instead of normal bivalents) during meiosis. (frontiersin.org)
There is a fundamental difference between canonical and inverted meiosis in the behavior and fate of the chromosomal multivalents. (frontiersin.org)

Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. (nih.gov)

women with mosaic trisomy X, who have a mix of 46,XX (the typical female karyotype) and 47,XXX cells, may have an increased risk of chromosomally abnormal children. (wikipedia.org)

The value of the technique, however, is limited to those diseases in which a physical derangement of the chromosomal material is apparent. (genengnews.com)

15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy. (nih.gov)

Fig. 6: In vitro karyotype evolution of tumor PDO 16T. (nature.com)
We also discuss the segregational model of karyotype evolution and the chromosomal model of homoploid hybrid speciation. (frontiersin.org)

Anatomy25

Organisms2

Diseases35

Chemicals and Drugs4

Analytical, Diagnostic and Therapeutic Techniques and Equipment25

Psychiatry and Psychology1

Phenomena and Processes58

Disciplines and Occupations1

Named Groups1

Health Care4

Abnormalities15

Chromosome15

Abnormality1

Chromosomes17

Microarray analysis1

Detect chromosomal1

Genetic3

Rates of chromosomal1

Instability3

Prenatal1

Fetuses4

Normal karyotype1

Aneuploidy1

Diagnosis2

Prevalence1

Meiotic1

Syndrome2

Rearrangements1

Translocations5

Analyses1

Trisomy 211

Disorders1

Rearrangement1

Etiology1

Genes1

Peripheral blood2

Anomalies1

Species3

Alteration1

Detection rate1

Patients2

Defect1

Amniocentesis1

Analysis1

Meiosis2

Cases1

Female1

Diseases1

Risk1

Evolution2