Syndromes sex chromosome aberrations. Medical search. Frequent questions

Nonetheless, phenotype-genotype correlations suggest that two or more genetic elements in interval 1A may contribute to the sex-determining function of the Y chromosome. (nih.gov)
This indicates that the genetic distance between the Factor IX gene and the fra(X) locus is too great for Factor IX probes to be used alone for carrier detection in the fra(X) syndrome. (mcmaster.ca)
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)
Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)
In eukaryotes the genetic material is organized as distinct structural entities called chromosomes. (oracleias.org)
Eukaryotic chromosome contain many origin of replications and the genetic material will only replicate at the S phase of cell cycle. (oracleias.org)
disruption in the normal chromosomal content of a cell and cause major changes in the genetic condition in human ,such as: down syndrome , klinefelter syndrome etc. (oracleias.org)
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)
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)
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)
A number of scientific papers have been published indicating that LSD might cause structural changes in the chromosomes, genetic mutations, disturbances of embryonic development, and malignant degeneration of cells. (druglibrary.net)
The genetic controversy about LSD started in 1967 when Cohen, Marinello and Back (22) published a paper suggesting that LSD should be added to the list of substances capable of causing abnormalities in the chromosomes. (druglibrary.net)
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)
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)
Usurping these processes to deregulate functional pathways is likely simpler than generating mutations or chromosomal aberrations (unless DNA repair is deficient and genetic instability is present). (aacrjournals.org)
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)
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)
I conclude that the karyotyping analysis of midtrimester amniocentesis is efficacious method for detection of chromosomal aberration and genetic counselling for parents. (ogscience.org)
aCGH provides an understanding of genetic disorders, cancers and other genomic aberrations. (enzolifesciences.com)
Sex differences at the genetic/epigenetic level in early development. (ubc.ca)
Genetic analysis has pinpointed 3 regions of Yq chromosome that are microdeletion hotspots. (cloudhealthlabs.com)
Male calicoes tend to live shorter lives than female calicoes because of a genetic condition called Klinefelter's Syndrome. (joewongcomedy.com)
Methods A retrospective analysis of clinical and genetic data of a patient with Alport syndrome was performed. (researchsquare.com)
Conclusion Genetic testing prior to pregnancy is recommended in Alport syndrome patients or family members prior to pregnancy to determine the specific location of the gene mutation. (researchsquare.com)

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)
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)
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)
Similarly, errors can also result in cells with missing or extra chromosomes, a condition known as 'aneuploidy', and can cause severe abnormalities. (biologyideas.com)
However, within populations there can be found abnormalities involving the structure or number of chromosomes . (schleiden-eifel.de)
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)
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)
Among autosomal abnormalities Down syndrome was most common (13 cases) and followed by Edward syndrome (2 cases). (ogscience.org)
Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. (ogscience.org)
Comparative genomic hybridization (aCGH) is a powerful diagnostic tool for detecting DNA copy number gains and losses associated with chromosome abnormalities. (enzolifesciences.com)
Compared to autosomes and the X chromosome, relatively few numerical or structural cytogenetic abnormalities have been reported for ECAY. (veteriankey.com)
Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. (virascience.com)
PPM-X syndrome is a condition characterized by psychotic disorders (most commonly bipolar disorder ), a pattern of movement abnormalities known as parkinsonism, and mild to severe intellectual disability with impaired language development. (medlineplus.gov)

Human cells have 23 pairs of chromosomes(22 pairs of autosomes and 1 pair of sex chromosomes)giving total of 46 per cell. (oracleias.org)
Each cat has a pair of sex chromosomes with the possible combinations of XX (female) and XY (male). (joewongcomedy.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)
Exclusion criteria comprised constitutional hypodiploidy, monosomy 7, composite karyotype, and t(8;21) with concurring sex chromosome loss. (bvsalud.org)
It is defined classically by a 47,XXY karyotype with variants that demonstrate additional X and Y chromosomes. (medscape.com)
The attached sheet shows the karyotype of four human individuals (A through D). Complete the following table to identify the sex, and the chromosomal aberration or name of the syndrome. (collepals.com)
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)
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)
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)
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)
Chromosome analysis using RBA-banding consistently revealed a 39,XXY karyotype. (karger.com)
DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. (biomedcentral.com)

XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
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)
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)
Aneuploidy - failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. (solarpoultry.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)

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)
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)
Here we report a case of donor cell-derived acute myeloid leukaemia with 3q26.2 involvement/MECOM rearrangement and chromosome 20q deletion. (lidsen.com)
Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. (medlineplus.gov)
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)

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)
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)
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 X,t(Y;22) female lacks the ZFY gene but does not exhibit the complex phenotype known as Turner's syndrome, arguing against the hypothesis that ZFY is the Turner's syndrome gene on the Y chromosome. (nih.gov)
In 3 families with the fragile-X [fra(X)] syndrome, we have identified a minimum of 4 recombinations in 9 meioses between the syndrome locus and the coagulation Factor IX gene. (mcmaster.ca)
Klinefelter syndrome, idic(Y), XX-male), and variants in the CFTR gene (in case of CBAVD). (radboudumc.nl)
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)
Be it for development, differentiation, stemness, or sex chromosome dosage compensation, stable, cell specific regulation of gene expression is essential for normal function ( 1 ). (aacrjournals.org)
Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (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)
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)
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)
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)
Mutations in the MECP2 gene cause PPM-X syndrome. (medlineplus.gov)
Although mutations in the MECP2 gene disrupt the normal function of nerve cells, it is unclear how these mutations lead to the signs and symptoms of PPM-X syndrome. (medlineplus.gov)
Some MECP2 gene mutations that cause PPM-X syndrome disrupt attachment (binding) of the MeCP2 protein to DNA, and other mutations alter the 3-dimensional shape of the protein. (medlineplus.gov)
It is unclear how MECP2 gene mutations lead to the signs and symptoms of PPM-X syndrome, but misregulation of genes in the brain likely plays a role. (medlineplus.gov)
In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. (medlineplus.gov)
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)
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)
In cats, the gene that dictates fur color is located on the X chromosome. (joewongcomedy.com)
The X chromosome also carries the coding gene for the black and orange colors in a calico's coat. (joewongcomedy.com)
Brother and sister with mesomelic dysplasia (homozygous dyschondrosteosis gene) and a woman with Leri-Weill syndrome. (medscape.com)
Purpose We report a novel gene mutation in a female patient with Alport syndrome who was planning to undergo assisted reproduction to achieve pregnancy. (researchsquare.com)

Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.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)
The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. (virascience.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)

Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. (medscape.com)
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)
Also, the lack of molecular tools for the study of ECAY has considerably hindered the detection of fine-scale cytogenetic aberrations. (veteriankey.com)
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)
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)

Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. (medscape.com)
Adolescent male with gynecomastia and Klinefelter syndrome. (medscape.com)
Child with Klinefelter syndrome. (medscape.com)
Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
Early identification and anticipatory guidance are extremely helpful in Klinefelter syndrome. (medscape.com)
Until 1996, men with Klinefelter syndrome were considered infertile. (medscape.com)
Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. (medscape.com)
A form of primary testicular failure occurs in males with Klinefelter Syndrome, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.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)
Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
The hypothalamic-pituitary-gonadal axis is altered in pubertal patients with Klinefelter syndrome. (medscape.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)
Approximately 250,000 men in the United States have Klinefelter syndrome. (medscape.com)
Aksglaede L, Skakkebaek NE, Almstrup K, Juul A: Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. (karger.com)

22) * After my arrival in the United States, I participated in a major study concentrating on structural changes of the chromosomes in the white blood cells following LSD administration. (druglibrary.net)
The first group includes papers describing structural changes of the chromosomes produced by LSD in vitro , ** in these experiments various concentrations of LSD are added to cultures of cells from human, animal, or plant tissues in a test-tube. (druglibrary.net)
The possibility of inducing structural changes in the chromosomes by exogenous agents such as radiation, viruses, and a variety of chemicals, has been a subject of great scientific interest for a long time. (druglibrary.net)
Structural mutations can be at the level of a complete chromosome (e.g. (identifai-genetics.com)

Patients with acute promyelocytic leukemia (APL) treated with arsenic trioxide injection have experienced symptoms of differentiation syndrome, which may be life-threatening or fatal. (nih.gov)
If differentiation syndrome is suspected, immediately initiate high-dose corticosteroids and hemodynamic monitoring until resolution. (nih.gov)
Therefore, DMRT1 is suggested to have an important role in sex differentiation. (biomedcentral.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)

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)

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)

In an organism, any visible abnormality in chromosome number or structure from the diploid set is known as chromosomal aberration . (schleiden-eifel.de)
Male calico cats are rare because like human males with Kleinfelter's Syndrome, they suffer from a chromosomal abnormality in which they have 2 X chromosomes along with the Y, instead of one. (joewongcomedy.com)

The ploidy can occur either in the complete set of chromosomes or in the individual chromosomes. (biologyideas.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 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)
Most of these conditions are associated with abnormal sex determination and/or sexual development (for review, see Villagomez et al. (veteriankey.com)

What are 2 types of chromosomal aberration? (biologyideas.com)

Four hundred patients with Turner's syndrome were followed, of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confidence interval (CI) 3.22-5.39). (ox.ac.uk)
Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. (ox.ac.uk)
Turner's syndrome. (biologyideas.com)

As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.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)
3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
Comparison of the human with the sheep genomes by use of human chromosome-specific painting probes. (cnr.it)

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)

Structures like centromere, kinetochore, secondary constriction and chromosomal arms are not formed in prokaryotic chromosomes. (oracleias.org)
Eukaryotic chromosome contains centromere kinetochore and chromosomal arms. (oracleias.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)
We now recognize that, following DNA replication, the metaphase chromosome consists of two chromatids held together by a centromere and by cohesin. (biomedcentral.com)
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)

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)
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)
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)
Y-chromosome microdeletion syndrome occurs in approximately 7,5% of males with confirmed infertility. (cloudhealthlabs.com)
Male cells have only one X chromosome, meaning normally, males are just one color. (joewongcomedy.com)

Testosterone is determined in men when reduced testosterone production is suspected, e.g. in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
One hundred and sixty three deaths occurred among 646 patients with Klinefelter's syndrome with a 47,XXY constitution, giving an RR of 1.63 (1.40-1.91). (ox.ac.uk)
The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes. (ox.ac.uk)
Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. (karger.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)

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)

Whether a human embryo develops as a male or a female is determined by the presence of the Y chromosome. (nih.gov)
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)

Trisomy 21 → gain of an extra chromosome 21, results in Down's syndrome. (mindmeister.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)
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)
In recent years, the term frontotemporal dementia has become an umbrella term referring to clinical syndromes of frontal dementia or progressive aphasia. (medscape.com)

We have localized an essential part of the sex-determining function to a portion of interval 1A, on the basis of the discovery of a female with a reciprocal Y;22 translocation and part of 1A deleted at the translocation breakpoint. (nih.gov)
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)

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)

In this condition, there is one chromosome less in one homologous pair i.e. 2n - 1 condition. (biologyideas.com)
Using different colors to distinguish chromosomes of maternal and paternal origin, draw a metacentric set of homologous chromosomes at: b. (collepals.com)

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)
what do you call an organism with four sets of chromosomes . (schleiden-eifel.de)

Each eukaryotic chromosome contains a linear DNA with two ends. (oracleias.org)
Telomere is present in the tip of eukaryotic chromosome. (oracleias.org)

It causes due to non-disjunction of chromosomes e.g. in humans, 46 chromosome is a diploid condition. (biologyideas.com)
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)

Management and treatment should focus on 3 major facets of the syndrome: hypogonadism, gynecomastia, and psychosocial problems. (medscape.com)
[ 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)
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)

Turner syndrome (TS) is characterized by gonadal dysgenesis, short stature, and dysmorphic features (neck webbing amongst others). (biomedcentral.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)

The sex-determining function lies entirely in interval 1A, inasmuch as most XX individuals with descended testes and normal male external genitalia carry this small region of the Y chromosome. (nih.gov)
The presence of a specific region of the Y-chromosome in TS patients is correlated with an increased risk of developing a GCC, namely the GonadoBlastoma on Y region (GBY, i.e. (biomedcentral.com)

Smokers produce sperm with the wrong number of chromosomes, a DNA error that leads to miscarriages and Down Syndrome . (susansmithjones.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)

METHODS: Disease-relevant copy number aberrations (CNAs) were screened genome-wide in 260 children with B-cell precursor ALL. (bvsalud.org)
In this condition, a pair of chromosomes is less in the genome i.e. 2n - 2. (biologyideas.com)
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)
19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.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)
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)

Down Syndrome - Extra chromosome at position 21. (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)
For individual D, indicate which parent contributed the extra chromosome. (collepals.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)

The determination of testosterone in women is helpful in the diagnosis of androgenic syndrome (AGS), polycystic ovaries (Stein-Leventhal syndrome) and when an ovarian tumor, adrenal tumor, adrenal hyperplasia or ovarian insufficiency is suspected. (cdc.gov)
Elaborating its molecular defects play an imperative role in understanding sex determination and development in the embryo. (biomedcentral.com)

[5] In animal cells, chromosomes reach their highest compaction level in anaphase during chromosome segregation . (wikipedia.org)
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)
In spite of the meticulous processes that normally ensure accurate chromosome separation, errors during anaphase can still occur, leading to chromosomal instability and disease. (biologyideas.com)
Anaphase marks a pivotal stage in mitosis, crucially ensuring each resulting daughter cell inherits an accurate set of chromosomes. (biologyideas.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)

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

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)
Dusk - created for Trisomy 13 (Patau Syndrome). (solarpoultry.com)

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

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

It has been proposed that racial/ethnic variation in prostate cancer incidence may be, in part, due to racial/ethnic variation in sex steroid hormone levels. (cdc.gov)

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)

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)

X chromosome inactivation is the the process by which most genes on one of the two X chromosomes in females are silenced epigenetically and randomly, and so fail to produce any product. (solarpoultry.com)

See more ideas about Chromosomal disorders, Disorders, Syndrome. (solarpoultry.com)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (schleiden-eifel.de)
Chromosome specific micro-arrays have however been used in a few cases to determine the critical regions in microdeletion disorders. (bmj.com)

Anatomy19

Organisms1

Diseases12

Chemicals and Drugs2

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Phenomena and Processes34

Disciplines and Occupations1

Anthropology, Education, Sociology and Social Phenomena1

Genetic31

Abnormalities17

Pair of sex chromosomes2

Karyotype14

Aneuploidy5

Deletion5

Deletions4

Gene25

Aneuploidies3

Cytogenetics3

Cytogenetic5

Klinefelter Syndrome14

Structural4

Differentiation4

Numerical2

Autosomes2

Abnormality2

Complete set of chromosomes1

Heredity2

Abnormal3

Types of chromosomal1

Turner's3

Supernumerary X chromosomes1

Probes3

Common chromosomal1

Centromere6

Males5

Klinefelter's4

Meiosis2

Polymorphism1

Presence of the Y chromosome2

Down's1

Clinical3

Translocation2

Reversal2

Homologous2

Organism4

Eukaryotic chromosome2

Humans2

Hypogonadism3

Turner Syndrome1

Somatic2

Region of the Y chromosome2

Sperm1

SISTER CHROMATIDS1

Genome4

Pairs3

Extra chromosome3

Human chromosome2

Determination2

Anaphase5

Alterations1

Constitutional2

Trisomy 132

Infertile1

Theory of inheritance1

Incidence1

Mitosis1

Germ cells1

Inactivation1

Disorders3