Aneuploidy sex chromosome aberrations. Medical search. Frequent questions

Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. (virascience.com)
Of those, 116 (13.2%) had sex chromosome abnormalities and 20(2.3%) had autosomal chromosome abnormalities. (ijfs.ir)
Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study. (ox.ac.uk)
Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959-90, and were compared with expectations from national rates. (ox.ac.uk)
Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosome structural rearrangements. (opentextbc.ca)
The isolation and microscopic observation of chromosomes forms the basis of cytogenetics and is the primary method by which clinicians detect chromosomal abnormalities in humans. (opentextbc.ca)
At its most basic, the karyogram may reveal genetic abnormalities in which an individual has too many or too few chromosomes per cell. (opentextbc.ca)
Of all the chromosomal disorders, abnormalities in chromosome number are the most easily identifiable from a karyogram. (opentextbc.ca)
The addition of more than one extra X or Y chromosome to a normal male karyotype results in variable cognitive and physical abnormalities. (medscape.com)
Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.com)
Knowledge on the prevalence of sex chromosome abnormalities (SCAs) is limited, and delayed diagnosis or non-diagnosis of SCAs are a continuous concern. (biomedcentral.com)
Among the many chromosome abnormalities reported in the horse, most are unique or rare. (tamu.edu)
However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. (tamu.edu)
Similarly, errors can also result in cells with missing or extra chromosomes, a condition known as 'aneuploidy', and can cause severe abnormalities. (biologyideas.com)
It has been shown that germ cells with an extra Y chromosome from men with the 47 XYY karyotype have abnormal meiotic pairing suggesting disrupted meiosis eventual sperm apoptosis and subsequent oligozoospermia and infertility [15 16 Structural chromosomal abnormalities (SCAs) include deletions duplications translocations (balanced imbalanced and Robertsonian) and inversions. (biobender.com)
Changes in the structure or quantity of chromosomes , which are strands of condensed genetic material, are known as chromosomal aberrations or abnormalities. (schleiden-eifel.de)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
These TP53 abnormalities may lead to DNA damage and subsequent aneuploidy. (spandidos-publications.com)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.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)
Chromosomal abnormalities are changes to the number or structure of chromosomes that can lead to birth defects or other health disorders. (solarpoultry.com)
Other evidence of chromosomal abnormalities include abnormal sexual development, behavioral disturbances, malignancy (e.g., the Philadelphia chromosome in chronic myelocytic leukemia), and spontaneous abortion. (solarpoultry.com)
for instance, the recently discovered network of gene fusions that are delicate to tyrosine kinase inhibitors.7 Genetic landscaping of severe lymphoblastic leukemia Like all malignancies, ALL is seen as a the sequential Rabbit Polyclonal to RCL1 acquisition of hereditary aberrations which get the initiation and maintenance of the leukemic clone.8,9 Generally speaking, hereditary abnormalities can be viewed as as supplementary or principal events. (synanet2020.com)

The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
Cyril Darlington pioneered plant cytogenetics in 1920-30 and made important advances in our understanding of mechanisms of chiasma formation and the behavior of sex chromosomes in meiosis [ 7 ]. (biomedcentral.com)
One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. (tamu.edu)
While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders. (tamu.edu)
The probes have been used for molecular hybridizations (fluorescence in situ hybridization, or FISH) in clinical cytogenetics, Y chromosome mapping, sequencing, gene discovery, and comparative Y chromosome studies between the horse and other equids/ Perssodactyls. (veteriankey.com)

A karyotype is the number and appearance of chromosomes, including their length, banding pattern, and centromere position. (opentextbc.ca)
To obtain a view of an individual's karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram ( Figure 7.7 ). (opentextbc.ca)
To obtain the classic depiction of the karyotype in which homologous pairs of chromosomes are aligned in numerical order from longest to shortest, the geneticist obtains a digital image, identifies each chromosome, and manually arranges the chromosomes into this pattern. (opentextbc.ca)
Finally, the karyotype can pinpoint translocations, which occur when a segment of genetic material breaks from one chromosome and reattaches to another chromosome or to a different part of the same chromosome. (opentextbc.ca)
[ 1 ] The etiology was thought to be due to an endocrine disorder of unknown cause, until 1959, when Jacobs et al recognized that Klinefelter syndrome was a chromosomal disorder in which there is an extra X chromosome, resulting in the karyotype 47,XXY. (medscape.com)
Today, the term Klinefelter syndrome (KS) refers to a group of chromosomal disorders in which the normal male karyotype, 46,XY, has at least one extra X chromosome. (medscape.com)
It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
i.e. azoospermia and oligozoospermia [6 11 12 15 The aberrations include numerical defects such as the XYY karyotype in Klinefelter syndrome or its variants and structural rearrangements Robertsonian translocations balanced reciprocal AVL-292 translocations and inversions. (biobender.com)
Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)
Increased germ cell defects have been reported for chromosomes 21 22 X and Y [15 16 Klinefelter syndrome (KS karyotype 47 XXY) is the most common chromosomal aberration detected in up to 14% of infertile patients with azoospermia [17]. (biobender.com)
Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)
The karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)
Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. (wakehealth.edu)

For many of the common autosomal aberrations, the mechanisms underlying their roles in cancer development have been well-characterized. (oncotarget.com)
Autosomal aneuploidy can also result in disease conditions. (wikipedia.org)
Aneuploidy (abnormal number of chromosomes) Autosomal dominant Autosomal recessive Homologous chromosome Pseudoautosomal region XY sex-determination system Genetic disorder Griffiths, Anthony J. F. (1999). (wikipedia.org)
Although the sperm of Klinefelter men usually have a normal 23 X or 23 Y haploid genome an increased rate of autosomal and sex chromosome aneuploidies was reported in KS men's offspring [19]. (biobender.com)

Genetic analysis has pinpointed 3 regions of Yq chromosome that are microdeletion hotspots. (cloudhealthlabs.com)
Morgan, Sturtevant, Bridges and Muller constructed the first genetic linkage maps from recombination studies in crosses made in the fruit fly and from cytological preparations of its polytene salivary gland chromosomes [ 4 - 6 ]. (biomedcentral.com)
In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
Since the genetic code was deciphered much has been learnt about the chromosome structure shared by all organisms from yeast to human. (biomedcentral.com)
For the genetic algorithm, see Chromosome (genetic algorithm) . (wikipedia.org)
A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
Wilhelm Roux suggested that each chromosome carries a different genetic configuration , and Boveri was able to test and confirm this hypothesis. (wikipedia.org)
Several esoteric (but quintessentially fly) genetic subjects are also given an unusually full treatment here, including autosynaptic chromosomes, transvection and position effect. (silverchair.com)
The disease generally begins with a genetic transformation - a mutation, or chromosomal aberration - and further genetic changes accumulate as the disease progresses. (me.uk)
It's during this step that each half of the cell has an exact copy of the genetic information, thereby ensuring that each new cell has a complete set of chromosomes. (biologyideas.com)
Both in mitosis and meiosis, anaphase ensures each newly formed cell has a complete and accurate set of chromosomes, thus safeguarding the genetic integrity of an organism. (biologyideas.com)
These aberrations can lead to various genetic disorders, such as Down syndrome. (biologyideas.com)
The resulting recombinase-coated ssDNA filaments can invade the homologous chromosome dsDNA, searching for a complementary sequence (chromosome pairing), which will foster genetic material exchange. (nature.com)
Sex differences at the genetic/epigenetic level in early development. (ubc.ca)
AVL-292 All genetic defects AVL-292 can be divided into the following categories: chromosome aberrations DNA copy number variants (micro deletions and duplications) single-gene disorders complex conditions and epigenetic disorders. (biobender.com)
Second, contribution of genetic aberrations to the clinical outcome was assessed and an aberration-specific score was assigned to each prognostically relevant alteration. (bvsalud.org)
Each human cell contains 23 pairs of homologous chromosomes (corresponding in structure and genetic information, i.e., 23 chromosomes are inherited from each parent). (amboss.com)
Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (solarpoultry.com)
Genetic Disorders refer to any abnormality in the individual gene(s) or the chromosomes which are caused due to the change in the sequence of the DNA or gain or loss of gene(s) or chromosomes. (solarpoultry.com)
Aneuploid tumors contained large numbers of genetic alterations with the sum gain of at least 2 chromosomes (A-, B- or C-group) detected by HR-CGH. (biomedcentral.com)
In the "simple-diploid" cases no or few genetic alterations could be detected, whereas the "complex-diploid" samples numerous aberrations (equal or more than 3) could be found. (biomedcentral.com)
The y-axis values indicate the mean genetic distance sums for each xrs2 mutant relative to the wild type (for chromosomes III or VII). (ps3magic.de)
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing. (medicover-genetics.com)

Deletions of part of a chromosome cause partial monosomies, while duplications can cause partial trisomies. (wikipedia.org)
The only true Y chromosome structural rearrangements, reported so far, are large-scale ECAY deletions in 64,XY sex reversal mares (Raudsepp et al. (veteriankey.com)
Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.com)
Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)

The change in the number of chromosomes is called chromosomal numerical aberration . (biologyideas.com)
Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
However, over the last 10years, with advancements in artificial reproductive tech-niques and the successful delivery of healthy children from men with Klinefelter syndrome, the involvement of Klinefelter syndrome is the most common numerical urologists in the care of patients with Klinefelter syn- chromosomal aberration among men, with an estimated drome is increasingly important. (health-abstracts.com)

The ploidy can occur either in the complete set of chromosomes or in the individual chromosomes. (biologyideas.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)

The result is an abnormal number of chromosomes. (solarpoultry.com)

For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). (wikipedia.org)
Autosomes still contain sexual determination genes even though they are not sex chromosomes. (wikipedia.org)
All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with a type of dye (most commonly, Giemsa). (wikipedia.org)
Aneuploidy of autosomes is not well tolerated and usually results in miscarriage of the developing fetus. (wikipedia.org)
The mother and father each contribute one set of 22 autosomes and one sex chromosome. (solarpoultry.com)
Presentation Summary : Human Chromosomal Disorders Human disorders due to chromosome alterations in autosomes (Chromosomes 1-22). (solarpoultry.com)

The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
Repair of mitomycin-C-induced chromosomal aberrations was impaired in RAD51B/Rad51b-c.92delT human and mouse somatic cells in vitro and in explanted mouse bone marrow cells. (nature.com)
Germ cells only carry one-half of a somatic cell's chromosomes . (amboss.com)
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species. (lookformedical.com)

For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. (wikipedia.org)
TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y chromosome to develop as females. (wikipedia.org)
Fetuses with aneuploidy of gene-rich chromosomes-such as chromosome 1-never survive to term, and fetuses with aneuploidy of gene-poor chromosomes-such as chromosome 21- are still miscarried over 23% of the time. (wikipedia.org)
Unlike single gene disorders, diseases caused by aneuploidy are the result of improper gene dosage, not nonfunctional gene product. (wikipedia.org)
The breakpoint cluster region is on the long arm of chromosome 22 (22q), in a gene usually expressed in leukocytes (white blood cells) which produces a receptor involved in signalling. (me.uk)
Tumor protein 53 ( TP53 ) is a recognized tumor suppressor gene located on chromosome 17q13.1. (spandidos-publications.com)
Fluorescence in situ hybridization (FISH) is a molecular pathological method with high sensitivity and specificity, which uses specific DNA probes to detect chromosomal aberrations, as well as gene deletion and amplification ( 21 , 22 ). (spandidos-publications.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
This might be because rearrangements in the gene-poor Y chromosome have milder effect on the phenotype, as a result of which the affected individuals escape attention and are not subjected to cytogenetic analysis. (veteriankey.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)
Known human disorders include Charcot-Marie-Tooth disease type 1A, which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (solarpoultry.com)
A gene is a segment of deoxyribonucleic acid (DNA) and contains the code for a specific protein that functions in one or more types of cells in the body (see Genes and Chromosomes for a discussion about genetics). (solarpoultry.com)

Partial aneuploidy can also occur as a result of unbalanced translocations during meiosis. (wikipedia.org)
Inherited disorders can arise when chromosomes behave abnormally during meiosis. (opentextbc.ca)
They are caused by nondisjunction , which occurs when pairs of homologous chromosomes or sister chromatids fail to separate during meiosis. (opentextbc.ca)
If homologous chromosomes fail to separate during meiosis I, the result is two gametes that lack that chromosome and two gametes with two copies of the chromosome. (opentextbc.ca)
Golic and Hawley are progeny of the Larry Sandler lineage, steeped in the traditions of meiosis, hard-core chromosome mechanics, fly lore and scholarship. (silverchair.com)
Not limited to mitosis, anaphase also takes place in meiosis, another type of cell division that leads to the creation of sex cells. (biologyideas.com)
Usually the extra X is result of chromosome nondisjunction in male or female meiosis [18]. (biobender.com)

Abnormal number or structure of chromosomes. (lookformedical.com)

By definition, anaphase is a phase of mitosis wherein the replicated chromosomes, known as sister chromatids, separate from one another and move toward opposite poles of the cell. (biologyideas.com)

examples include aneuploidy (atypical chromosome number), deletion (loss of part of a chromosome), duplications (extra copies of a region of a chromosome), inversion (when part of a chromosome breaks off and reattaches in reverse. (schleiden-eifel.de)

The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. (virascience.com)
Trisomy 21, also referred to as Down's syndrome, is a chromosomal aberration characterized by the presence of an additional chromosome 21.Trisomy 21 is associated with a rate of incidence of 1:600 among newborns and is one of the most common chromosomal … However, they can also have detrimental effects. (solarpoultry.com)
New concepts in Klinefelter syndromeDarius A. PaduchRonnie G. Alexander Bolyakoand Joseph Kiper aDepartment of Urology and Reproductive Medicine, Weill Medical College of Cornell University and Klinefelter syndrome, 47,XXY and its variants, is the most common chromosomal Population Council, Center for Biomedical Research, aberration among men, with estimated frequency of 1 : 500 among newborns. (health-abstracts.com)

Conclusion: We observed high frequency of aneuploidy and sex chromosomal mosaicism in azoospermic men and high structural aberrations in males with low sperm quality. (ijfs.ir)
So that, high chromosomal aneuploidy was detected in males with lower sperm count and high structural aberration was detected in males with low sperm quality. (ijfs.ir)
2002), for sperm FISH to detect ECAY aneuploidy (Bugno-Poniewierska et al. (veteriankey.com)
how- felter syndrome is characterized by X chromosome polys- ever, successful sperm recovery from men with Kline- omy with X disomy being the most common variant felter syndrome indicating that adolescents with Kline- (47,XXY). (health-abstracts.com)

what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
Euploidy is a condition in which an organism possesses one or more full sets of chromosomes. (biologyideas.com)
Triploidy is a condition in which an organism contains Three sets (3n) of chromosomes in the nucleus of the body cell. (biologyideas.com)
Polyploidy is a condition in which an organism contains more than usual two sets (2n) of chromosomes . (biologyideas.com)

In this condition, a pair of chromosomes is less in the genome i.e. 2n - 2. (biologyideas.com)
The last pair of chromosomes are sex chromosomes, which determine an individuals sex. (ps3magic.de)

METHODS: Disease-relevant copy number aberrations (CNAs) were screened genome-wide in 260 children with B-cell precursor ALL. (bvsalud.org)
The most notable example is NIPT for trisomy 21 (where the genome of the fetus contains an extra copy of chromosome 21), which causes Down syndrome, a test that has shown high sensitivity and specificity not only in high-risk populations like advanced maternal age pregnancies, but also in the general population [7]. (identifai-genetics.com)
The human genome consists of 23 pairs of chromosomes ( 22 pairs of homologous chromosomes and one pair of sex chromosomes ). (amboss.com)
Aneuploidy may be hypoploidy (loss of one chromosome from a genome) or hyperdiploid (one or more chromosomes extra in a set of chromosomes). (biologyideas.com)
This paper compared the performance of the PicoPLEX DNA-seq Kit , the DOPlify WGA Kit, the REPLI-g Single Cell Kit, and the Ampli1 WGA Kit for aneuploidy screening and copy number analysis using shallow whole genome sequencing, starting from one, three, or five cells isolated from the Loucy cell line. (takarabio.com)
May 21, 2021 All mutations that change the total number of chromosomes are considered to be genome mutations. (ps3magic.de)

Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (opentextbc.ca)
Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.com)
Furthermore, we delve into the significant role of the mitotic spindle, the complex that serves as the catalyst for moving chromosomes during anaphase, and observe the consequential fallout in case of anaphase errors, putting emphasis on common mishaps like non-disjunction which could potentially trigger chromosomal disorders including cancer and Down syndrome. (biologyideas.com)
chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)

Examples of this are Down syndrome , which is identified by a third copy of chromosome 21 , and Turner syndrome, which is characterized by the presence of only one X chromosome in women instead of two. (opentextbc.ca)

Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number of complete sets of chromosomes. (opentextbc.ca)

In addition to the banding patterns, chromosomes are further identified on the basis of size and centromere location. (opentextbc.ca)
We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.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)
Iso-chromosomes: A new type of chromo-some may arise from a break (i.e., a misdivision) at the centromere. (solarpoultry.com)
of someones chromosomes (while a cell is in mitosis), cut them out and match them up using size, banding pattern and centromere position as guides. (solarpoultry.com)

These disorders manifest in and are passed on by either sex with equal frequency. (wikipedia.org)
Another chromosome-related clinical application is fetal sex determination, which also enables to rule out X-linked recessive disorders in case of a female fetus. (identifai-genetics.com)
Title: Microsoft Word - Chapter 8 - Ch Author: gregory carey Created Date: 10/4/2000 3:51:47 PM A. Trisomy Disorders disorders in which an individual has an extra (or piece of an extra) chromosome. (solarpoultry.com)
The gain and losses of important genes and regulatory elements due to SVs will impact phenotype causing disease such as cancer and sex development disorders. (mdanderson.org)
An extremely complex form of SVs called chromothripsis, in which dozens to hundreds of breakpoints on one or more chromosomes are involved, was originally reported in different types of cancers as well as in germlines genomes causing developmental and neuronal disorders. (mdanderson.org)
Chromosome aberrations may result in CHROMOSOME DISORDERS. (lookformedical.com)

Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)
It is, therefore, not clear whether haploinsufficiency for Xp genes in XO cells or the overdose of MSY and PAR genes in Xi(Y) cells is the cause of abnormal sex determination and differentiation in these animals. (veteriankey.com)
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)

Figure 7.7 This karyogram shows the chromosomes of a female human immune cell during mitosis. (opentextbc.ca)
This intricate phase, located within the larger mechanism of mitosis, is responsible for acting as a guarantor that each nascent cell obtains A precise set of chromosomes. (biologyideas.com)
Anaphase marks a pivotal stage in mitosis, crucially ensuring each resulting daughter cell inherits an accurate set of chromosomes. (biologyideas.com)
This consists of a failure in the chromosome pairs or the chromatids to separate in the first or second meiotic divisions or during mitosis. (solarpoultry.com)

Sex chromosomes determine an individual's sex: females have two X chromosomes (XX), and males have an X and a Y chromosome (XY). (solarpoultry.com)

In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)

This polymorphism is primarily attributed to the various amount of Y heterochromatin, though earlier studies also suggest variation in the euchromatic portion of the chromosome (Power, 1988). (veteriankey.com)

Chromosome mutations are alterations occurring in chromosomes that typically result from errors during nuclear division or from mutagens. (ps3magic.de)

a complete haploid set of chromosomes is present. (schleiden-eifel.de)

SS has a characteristic balanced translocation between chromosomes × and 18, t(X;18) (p11.2;q11.2), represented in more than 95% of the cases. (biomedcentral.com)

By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. (wikipedia.org)
Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia, as seen in polysomy X males. (medscape.com)
B. This chromosomal aberration tends to manifest in males in the form of absent or delayed puberty, sterility, development of breast, etc. (schleiden-eifel.de)

Aneuploidy - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.com)

Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)

For instance, Jacobsen syndrome, which involves distinctive facial features as well as heart and bleeding defects, is identified by a deletion on chromosome 11. (opentextbc.ca)
Aneuploidy is a condition in which there is the addition or deletion of one or more chromosomes in a diploid set of chromosomes. (biologyideas.com)
Possible types of mutations in chromosomes include Deletion When a segment of DNA is lost, so there is a missing segment in the chromosome. (ps3magic.de)

[ 9 ] Consequences of an extra X chromosome, usually acquired through a nondisjunctional error during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial behavioral concerns. (medscape.com)
All major areas of development, including expressive and receptive language and coordination, are affected by extra X chromosome material. (medscape.com)

By aggregating the scores of aberrations emerging in individual patients, personalized cumulative values were calculated and used for defining four prognostic subgroups with distinct clinical outcomes. (bvsalud.org)
The first clinical uses of NIPT were for chromosomal-level anomalies (a.k.a. aneuploidies). (identifai-genetics.com)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional. (lookformedical.com)

Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.com)

Although the X and Y sex chromosomes are highly divergent, the pseudoautosomal regions are homologous between both chromosomes. (oncotarget.com)
Therefore, microdissected Y-chromosome probes are good for FISH but not suitable for cloning and sequencing of the male-specific or pseudoautosomal regions of the chromosome. (veteriankey.com)

Nevertheless, it has been postulated that tumor suppressor genes reside on the sex chromosomes. (oncotarget.com)
The positive rate of p53 protein expression was 54.5% (201/369) in the multi‑ethnic group, and was significantly different between sex (P=0.026) and between tumor differentiation groups (P=0.032). (spandidos-publications.com)

The major consequences of the extra sex chromosome, usually acquired through an error of nondisjunction during parental gametogenesis, include hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)

Chromosome abnormality. (ps3magic.de)

These are some of the most common cytogenetically visible rearrangements in humans - for example , the pericentric inversion of chromosome 9 is found in over. (schleiden-eifel.de)
It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.com)
Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)

This NIPT tests for common fetal chromosomal aberrations. (cloudhealthlabs.com)

A comparison of human and chimpanzee genes in the region of this inversion indicates that two genes-ROCK1 and USP14-that are adjacent on chimpanzee chromosome 17 (which corresponds to human chromosome 18) are more distantly positioned on human chromosome 18. (schleiden-eifel.de)
ZOO-FISH and R-banding reveal extensive conservation of human chromosome regions in euchromatic regions of river buffalo chromosomes. (cnr.it)
Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)

The mechanisms of transmission of both discontinuous and continuous characteristics across the generations were unknown before Mendel's laws were explained at the turn of the 20th Century by the behavior of chromosomes in germ cells [ 2 , 3 ]. (biomedcentral.com)

Because of the various life-threatening medical problems surrounding this condition, the majority of infants with trisomy 13 … 12.24, the two resultant telocentric chromosomes may open up to produce chromosomes with two identical arms (i.e., iso-chromosomes). (solarpoultry.com)

Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.com)

The switch from metaphase to anaphase is a critical event, powered by the Anaphase-Promoting Complex/Cyclosome (APC/C). Essentially, this is a signal within the cell stating that the chromosomes have been properly aligned on the metaphase plate, signifying their readiness for separation. (biologyideas.com)

Walter Sutton (left) and Theodor Boveri (right) independently developed the chromosome theory of inheritance in 1902. (wikipedia.org)
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)

Anatomy20

Organisms1

Diseases13

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes37

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Abnormalities27

Cytogenetics6

Karyotype13

Autosomal4

Genetic23

Deletions4

Numerical3

Individual chromosomes2

Abnormal number of chromosomes1

Autosomes6

Somatic6

Gene12

Meiosis7

Structure of chromosomes1

Sister chromatids1

Duplications1

Common chromosomal3

Sperm4

Organism5

Pair of chromosomes2

Genome6

Chromosomal disorders4

Copy of chromosome 211

Sets of chromosomes1

Centromere5

Disorders6

Determination3

Mitosis4

Individual's1

Male sex1

Portion of the chromosome1

Alterations1

Haploid1

Translocation1

Males5

Chromatids1

Klinefelter1

Deletion3

Extra X chromosome2

Clinical2

Segregation2

Down's1

Pseudoautosomal regions2

Tumor2

Nondisjunction1

Abnormality1

Humans3

Fetal1

Human chromosome3

Germ1

Trisomy 131

Mitotic spindle1

Metaphase plate1

Theory of inheritance2