Karyotype sex chromosome aberrations. Medical search. Frequent questions

Karyotyping is the process by which a karyotype is discerned by determining the chromosome complement of an individual, including the number of chromosomes and any abnormalities. (wikipedia.org)
2] The addition of more than one extra X or Y chromosome to a male karyotype results in variable physical and cognitive abnormalities. (medscape.com)
In general, the extent of phenotypic abnormalities, including mental retardation, is directly related to the number of supernumerary X chromosomes. (medscape.com)
Secondary chromosome abnormalities were found in 62% of the cases, most often loss of a sex chromosome. (lu.se)
Of those, 116 (13.2%) had sex chromosome abnormalities and 20(2.3%) had autosomal chromosome abnormalities. (ijfs.ir)
Trisomy of sex chromosomes is compatible with life, but will cause phenotypic abnormalities. (mindmeister.com)
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)
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)
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)
The overall incidence of chromosome abnormalities was 5.1% (40 cases), and it contains 27 cases (3.4%) of numerical abnormalities and 13 cases (1.7%) of structural abnormalities. (ogscience.org)
Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. (ogscience.org)
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)
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)
The karyotype is a method by which traits characterized by chromosomal abnormalities can be identified from a single cell. (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)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)
Karyotyping was performed on all NIGMS Repository cell lines that were submitted with reported chromosome abnormalities. (noncode.org)
Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.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)
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)

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)
Aneuploidy - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.com)
XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.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 karyotype demonstrated tumor cell patterns with aneuploidy and complex chromosomal aberrations. (biomedcentral.com)

The preparation and study of karyotypes is part of cytogenetics. (wikipedia.org)
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)
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)

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)
Consequently, Genetic testing and counselling is indicated for infertile men with abnormal semen parameters with either abnormal karyotype or normal karyotype before applying assisted reproductive techniques. (ijfs.ir)
The result is an abnormal number of chromosomes. (solarpoultry.com)
chromosomal disorders It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. (solarpoultry.com)
Their testis histology show germ cell degeneration while serum levels of hormones are abnormal with a decline in testosterone level and elevated follicle-stimulating hormone (FSH) and luteinizing hormone (LH) [12 17 18 The 47 XXY karyotype accounts for nearly 90% of the patients while other variants are rare [17]. (biobender.com)
Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2-5% of the general population. (tamu.edu)
In 6 to 11% of cases a cell line with a normal or abnormal Y-chromosome is identified by standard cytogenetic techniques [ 4 ]. (biomedcentral.com)
Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)
The two individuals carrying isochromosome Y had mosaic karyotypes 63,XO/64,Xi(Y), and both animals were phenotypically abnormal. (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)

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)
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)
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)
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)
[ 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)
If Klinefelter syndrome is not diagnosed prenatally, a patient with 47,XXY karyotype may demonstrate various subtle, age-related clinical signs that would prompt diagnostic testing. (medscape.com)
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)

With this test the most common causes of male infertility can be detected: AZF deletions on the Y-chromosome, (non-mosaic) sex chromosomal aberrations (e.g. (radboudumc.nl)
Like deletions, duplications can happen anywhere along the chromosome. (solarpoultry.com)
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)
Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
A post-natal karyotype and chromosomal SNP microarray revealed deletions of both terminal regions of the Y chromosome, consistent with the prenatal diagnosis of the ring Y chromosome. (juniperpublishers.com)
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)

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)
A ring chromosome is an extremely rare chromosomal aberration, which can occur in autosomes and sex chromosomes. (juniperpublishers.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)
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)

The basic number of chromosomes in the somatic cells of an individual or a species is called the somatic number and is designated 2n. (wikipedia.org)
As the number of 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)
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)
Chromosome and Karyotype Review Somatic cells always have an even number of chromosomes because they exist in pairs (2n or diploid). (mymom.info)

The human genome consists of 23 pairs of chromosomes ( 22 pairs of homologous chromosomes and one pair of sex chromosomes ). (amboss.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)
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 observe an individual's karyotype, a person's cells (like white blood cells) are first collected from a blood sample or other tissue. (opentextbc.ca)
To obtain a view of an individual's karyotype, cytologists. (mymom.info)
Karyotype: The characterization of the chromosomal complement of an individual's cell, including number, form, and size of the chromosomes. (mymom.info)

A karyogram or idiogram is a graphical depiction of a karyotype, wherein chromosomes are generally organized in pairs, ordered by size and position of centromere for chromosomes of the same size. (wikipedia.org)
[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)
A karyotype is the number and appearance of chromosomes, including their length, banding pattern, and centromere position. (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)

In schematic karyograms, just one of the sister chromatids of each chromosome is generally shown for brevity, and in reality they are generally so close together that they look as one on photomicrographs as well unless the resolution is high enough to distinguish them. (wikipedia.org)
They are caused by nondisjunction , which occurs when pairs of homologous chromosomes or sister chromatids fail to separate during meiosis. (opentextbc.ca)

Polyploid cells have multiple copies of chromosomes and haploid cells have single copies. (wikipedia.org)
a complete haploid set of chromosomes is present. (schleiden-eifel.de)

The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. (biomedcentral.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)

So, in normal diploid organisms, autosomal chromosomes are present in two copies. (wikipedia.org)
In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
If a normal diploid cell is 2n, the chromosome content of a double tetrasomic cell is designated. (schleiden-eifel.de)
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)

Inversions: A portion of the chromosome has broken off, turned upside down, and reattached, therefore the genetic material is inverted. (solarpoultry.com)

A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. (biomedcentral.com)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
More research is required to pinpoint the exact mechanism that underlies sex reversal caused by DMRT1 haploinsufficiency. (biomedcentral.com)
XY sex reversal is a relatively rare type of DSD (disorder of sexual development). (biomedcentral.com)
Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. (biomedcentral.com)
Mutations in the SRY gene are known to be involved in 46,XY sex reversal and are found in approximately 15% of 46,XY gonadal dysgenesis cases [ 10 ]. (biomedcentral.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)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)

These differences could have resulted from successive unequal translocations which removed all the essential genetic material from a chromosome, permitting its loss without penalty to the organism (the dislocation hypothesis) or through fusion. (wikipedia.org)
Balanced translocations and (low-grade) mosaic sex chromosomal aberrations cannot be detected with exome sequencing. (radboudumc.nl)
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)

The study of whole sets of chromosomes is sometimes known as karyology. (wikipedia.org)
what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)
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)

Clone Y5 was sublocalized to band Yq 11.22 by hybridization to a panel of cellular DNA from patients with Y chromosome rearrangements. (barrowneuro.org)
hence, an absence of sex chromosomes may be caused by such rearrangements. (cydas.org)
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)
3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
Ten cases with known cryptic aberrations were selected (seven cases with subtelomeric rearrangements, one case with an interstitial deletion and two cases with microdeletion syndromes: one case with DiGeorge syndrome and one case with a microdeletion of 17p11 (Smith Magenis syndrome) in 60% of the lymphocytes). (bmj.com)
Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.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)
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)
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)
The presence of such secondary aberrations did not correlate with any morphological or clinical characteristics, including survival. (lu.se)
According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)
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)

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)
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)

Chromosomal disorders: numerical disorders The most frequent cause of numerical disorders in chromosomes tends to be n ondisjunction. (solarpoultry.com)
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)

Usually the extra X is result of chromosome nondisjunction in male or female meiosis [18]. (biobender.com)
Inherited disorders can arise when chromosomes behave abnormally 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)

Therefore, we conducted a case study of a 46,XY female to better understand the genotypic and phenotypic characteristics related to 9p24.3 aberration and DMRT1 loss. (biomedcentral.com)
This mosaicism, due to the presence of the ring Y chromosome and depending upon on the presence or absence of the SRY gene can result in a wide spectrum of manifestations ranging from females with a Turner syndrome-like phenotype to phenotypic males. (juniperpublishers.com)
Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)

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

METHODS: Disease-relevant copy number aberrations (CNAs) were screened genome-wide in 260 children with B-cell precursor ALL. (bvsalud.org)
19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
Approximately 1000 samples from the Chromosomal Aberrations and Heritable Diseases collections of the NIGMS Repository were genotyped on the Affymetrix Genome-Wide Human SNP 6.0 Array and analyzed for CNVs at the Coriell Institute for Medical Research. (noncode.org)
Structural mutations, which are large parts of the genome that are missing or duplicated, are detected using karyotyping, fluorescent in situ hybridization (FISH) or comparative genomic hybridization (CGH). (identifai-genetics.com)

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)

Gonadal development is particularly susceptible to each additional X chromosome, resulting in seminiferous tubule dysgenesis and infertility, as well as hypoplastic and malformed genitalia in polysomy X males. (medscape.com)
47 XYY syndrome This syndrome occurs in 1:1000 men but is more common among infertile males [15 17 Infertile men with the 47 XYY karyotype are otherwise healthy. (biobender.com)
This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.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)

Karyotype analysis on peripheral blood lymphocytes, the XCAT-KS buccal swab test, fluorescence in-situ hybridization (FISH), and microarrays are options for postnatal diagnostic testing. (medscape.com)

Elaborating its molecular defects play an imperative role in understanding sex determination and development in the embryo. (biomedcentral.com)
The Sex determining Region on the Y gene ( SRY ) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. (biomedcentral.com)
Normal male (46,XY) sex determination relies on the presence of the Y-chromosome, specifically on expression of SRY at the appropriate time and place during gonad development. (biomedcentral.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)

for uncertain chromosomes, "c" for constitutional alterations. (cydas.org)
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)

Primary amenorrhea which result commonly from sex chromosome aberration as geneticabnormalities, may result from oneaberration in autosomal chromosomes or in association with sex chromosomal aberrations. (iasj.net)

This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. (biomedcentral.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)

A chromosome is a long DNA molecule with part or all of the genetic material of an organism. (wikipedia.org)
Variability of phenotype depends on the percentage of monosomic cells in different tissues and on the genetic material deleted during the formation of ring Y chromosome. (juniperpublishers.com)

A karyotype is the general appearance of the complete set of chromosomes in the cells of a species or in an individual organism, mainly including their sizes, numbers, and shapes. (wikipedia.org)
Karyotypes describe the chromosome count of an organism and what these chromosomes look like under a light microscope. (wikipedia.org)
The term is also used of the complete set of chromosomes in a species, or an individual organism.It describes the number of chromosomes, and what they look like under a light microscope.Attention is paid to their length, the position of the centromeres, any differences between the sex chromosomes, and. (mymom.info)

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)
Rad51b c.92delT/c.92delT mice exhibited meiotic DNA repair defects due to RAD51 and HSF2BP/BMRE1 accumulation in the chromosome axes leading to a reduction in the number of crossovers. (nature.com)
Mediates attachment of the chromosome to the meiotic or mitotic spindle . (amboss.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)

CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. (biomedcentral.com)

Clone Y2, also found in female and male DNA, is probably located in the pseudosutosomal region because extra copies of either the X or Y chromosomes increased Y2 restriction enzyme fragment intensity in total cellular DNA. (barrowneuro.org)
A person with a duplication has three copies of a particular chromosome segment instead of the usual two copies. (solarpoultry.com)
Down Syndrome results when three, rather than the normal two, copies of chromosome 21 are present in each cell. (mymom.info)

For example, the legumes Lotus tenuis and Vicia faba each have six pairs of chromosomes, yet V. faba chromosomes are many times larger. (wikipedia.org)
General designation for syndromes due to chromosomal aberrations, typically associated with mental … Thus, there are normally 23 pairs of chromosomes in the fertilized egg. (solarpoultry.com)
All the other chromosomes are still arranged in pairs of two, but. (schleiden-eifel.de)
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)

During metaphase the X-shaped structure is called a metaphase chromosome, which is highly condensed and thus easiest to distinguish and study. (wikipedia.org)

Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)

In the germ-line (the sex cells) the chromosome number is n (humans: n = 23).p28 Thus, in humans 2n = 46. (wikipedia.org)
Humans have one pair fewer chromosomes than the great apes. (wikipedia.org)

Because of the instability of a ring Y chromosome during mitosis, a second monosomic cell line is often present in these patients [ 2 ]. (juniperpublishers.com)
Figure 7.7 This karyogram shows the chromosomes of a female human immune cell during mitosis. (opentextbc.ca)

Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)
Gets or sets a value indicating if the alteration in the sex chromosomes is constitutional. (cydas.org)
a value indicating if the alteration in the sex chromosomes is constitutional. (cydas.org)

Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
and Golbus, M S, "Isolation and characterization of Y chromosome DNA probes. (barrowneuro.org)
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)

Karyotyping is recommended, especially in azoospermia and severe oligozoospermia cases. (radboudumc.nl)

Therefore, DMRT1 is suggested to have an important role in sex differentiation. (biomedcentral.com)

Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. (lidsen.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)
Analysis of syndromic DNA using an oligonucleotide microarray (Agilent 4 x 180K) demonstrated the characteristic deletion in 15q11.2-q13 (chromosome 15) found in patients with Prader-Willi syndrome. (enzolifesciences.com)

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)
Using one sentence for each example, explain five lines of evidence in support of the chromosome theory of heredity. (collepals.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)

Rarely infertile men with normal karyotype have chromosome aberrations in sperm [16]. (biobender.com)

This test includes a panelwide CNV analysis, including CNV analysis of the AZF regions on the Y-chromosome. (radboudumc.nl)
FISH analysis demonstrated the presence of a ring Y chromosome in 37.1% of the cells. (juniperpublishers.com)
I conclude that the karyotyping analysis of midtrimester amniocentesis is efficacious method for detection of chromosomal aberration and genetic counselling for parents. (ogscience.org)
Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. (karger.com)
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)
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)
and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)
Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. (wakehealth.edu)
In addition to routine chromosome analysis, we perform high-resolution and specialized banding techniques. (wakehealth.edu)
Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. (biomedcentral.com)
You will be arranging chromosomes into a completed karyotype, and interpreting your findings just as if you were working in a genetic analysis program at a hospital or clinic. (mymom.info)

Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.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)

May have trisomy of other chromosomes, eg. (mindmeister.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)
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)

Other articles where Karyotype is discussed: genetic testing: Karyotyping: To obtain a person's karyotype, laboratory technicians grow human cells in tissue culture media. (mymom.info)

Additionally, there are two reports about infertile stallions having XXY sex chromosomes - an equine counterpart to human Kleinfelter syndrome (Kubien et al. (veteriankey.com)

This karyotype can be associated with mixed gonadal dysgenesis in both boys and girls, depending on the tissue distribution of the 45,X and 46,X(r)Y cell lines. (juniperpublishers.com)
Patients with chromosomal DSD as a result of a 45,X/46,XY karyotype (mixed gonadal dysgenesis) may present with a wide spectrum of phenotypes ranging from normal male through ambiguous genitalia to female with a TS phenotype [ 5 ]. (biomedcentral.com)

Anatomy22

Organisms2

Diseases14

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes41

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Abnormalities28

Aneuploidy6

Cytogenetics7

Abnormal10

Klinefelter8

Deletions6

Autosomes3

Genes and Chromosomes2

Somatic7

Pair of sex1

Individual's5

Centromere7

Sister chromatids2

Haploid2

Cytogenetic analysis2

Diploid4

Inversions1

Reversal6

Homologous chromosome2

Translocations3

Sets of chromosomes3

Rearrangements6

Clinical6

Copy of chromosome 212

Numerical2

Meiosis3

Phenotypic3

Extra chromosome 211

Individual chromosomes1

Genome4

Complement2

Males5

Lymphocytes1

Determination4

Alterations2

Autosomal chromosomes1

Turner1

Portion of the chromosome1

Genetic material2

Organism3

Meiotic3

Abnormality1

Duplications1

Copies3

Pairs4

Metaphase chromosome1

Structural1

Humans2

Mitosis2

Constitutional3

Probes3

Azoospermia1

Differentiation1

Deletion3

Heredity2

Nondisjunction1

Sperm1

Analysis11

Aneuploidies1

Common chromosomal1

Trisomy3

Person's1

Infertile1

Dysgenesis2