Klinefelter syndromes gene dosage. Medical search. Frequent questions

It contains copies of parts of one or more normal chromosomes and like normal chromosomes is located in the cell's nucleus, is replicated and distributed into each daughter cell during cell division, and typically has genes which may be expressed. (wikipedia.org)
The sSMC's small size makes it virtually undetectable using classical cytogenetic methods: the far larger DNA and gene content of the cell's normal chromosomes obscures those of the sSMC. (wikipedia.org)
Sex hormones and genes on the sex chromosomes are not only key factors in the regulation of sexual differentiation and reproduction but they are also deeply involved in brain homeostasis. (mdpi.com)
A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
Sex chromosome dosage compensation comes into play for individuals who have mismatched sex chromosomes. (scitechdaily.com)
The Z chromosomes contain instructions for some of the proteins normally functioning cells should produce, and having only a single copy of a chromosome can result in a reduced amount of proteins produced, because protein production is often affected by the number of gene copies. (scitechdaily.com)
But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (scitechdaily.com)
The importance of maintaining a proper balance is made evident by diseases caused by abnormal numbers of sex chromosomes, including Klinefelter syndrome and Turner syndrome in humans, and Valenzuela said these processes have evolutionary and health implications in many other organisms as well. (scitechdaily.com)
The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (scitechdaily.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)
If sex chromosomes evolved from autosomes, then, something must have happened to make the the X chromosome genes expressed twice as much as the genes on any single autosome. (drwile.com)
Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (opentextbc.ca)
Turner Syndrome In Turner syndrome, girls are born with one of their two X chromosomes partly or completely missing. (msdmanuals.com)
By virtue of having 2 X chromosomes, females have 2 loci for every X-linked gene, as compared with a single locus in males. (msdmanuals.com)
However, molecular genetic studies have shown that some genes on the inactivated X chromosome (or chromosomes) remain functional, and these few are essential to normal female development. (msdmanuals.com)
Chromosomes are packages of genes present in every mobile in the torso. (alvamater.com)

Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (springer.com)
Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.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)

Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. (medscape.com)
To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
These genes were studied in XX testicular/ovotesticular disorders of sex development (DSDs) in the absence of the SRY gene. (e-kjgm.org)
46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.org)
Men withKlinefelter syndrome present with sequels of hormonal and spermatogenic testicular Correspondence to Darius A. Paduch, MD, PhD,Department of Urology, Weill Medical College of failure like infertility, low testosterone, erectile dysfunction, and low bone mineral Cornell University, 525 East 68th Street F-924A, density. (health-abstracts.com)
SummaryGrowing interest in Klinefelter syndrome among translational scientists and clinicianswill result in better understanding of the pathophysiology of testicular failure. (health-abstracts.com)
The only obviousdifference that is seen in all men with Klinefelter syndrome is clearly visible difference in testicular size between men with Klinefelter syndrome (verysmall testes) and men with 46,XY karyotype (normal size). (health-abstracts.com)

At present there are only a handful of genes or genetic defects that have been shown to cause or to be strongly associated with primary infertility. (biobender.com)
Indeed there are 10-15 new gene tests on average being added to the clinical genetic testing list annually. (biobender.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)
Disorders of gene dosage, ranging from aneuploidies to copy number variations (CNVs), are increasingly recognized as high-impact genetic risk factors for neuropsychiatric disease [ 1 ]. (biomedcentral.com)
This imbalance would seem to cause a genetic "dosage" problem. (msdmanuals.com)
The excess information that is genetic either be carried in almost every cellular within the body or it could just influence some cells (known as mosaic Klinefelter syndrome). (alvamater.com)

In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
Andrology, sexual dysfunction and infertility Figure 1 The classic descriptions of men with Klinefelter syndrome are based on the most severe cases of phenotypic abnormalities Most teenagers and young adults seen in our practice have typical body proportions, arm span and penile length as their peers. (health-abstracts.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)
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)
description is not accurate and men with Klinefelter syndrome represent a broad spectrum of phenotypes, professions, incomes and socioeconomic status The 47,XXY karyotype of Klinefelter syndrome arises Severe intellectual deficits are rare. (health-abstracts.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)

This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. (stanford.edu)
Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, Ferlin A. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (springer.com)
Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. (karger.com)
In Klinefelter's syndrome, an extra copy of the X chromosome increases estrogen production (female hormone). (icliniq.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)

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)
Current Opinion in Urology 2008, 18:621-627 Sperm can be found in over 50% of men with Klinefelter syndrome, thus men withKlinefelter syndrome are not sterile. (health-abstracts.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)

Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. (e-kjgm.org)
Sex differentiation related genes such as SOX9 , FGF9 , DAX1 , WT1 , RSPO1 , and SOX10 , which are located on either autosomes or the X chromosome, may have a role in gonad development and function. (e-kjgm.org)
These studies suggested that the genes on the only active X chromosome in both males and females were expressed as much as the genes on the autosomes. (drwile.com)

It detects upwards of 95% of the mutations for complete androgen insensitivity syndrome and partial androgen insensitivity syndrome. (medscape.com)
Over 1,000 such mutations have been described, including complete and partial gene deletions, point mutations, and small insertions/deletions. (medscape.com)
While the genotypes causing complete androgen insensitivity syndrome are fairly consistent in phenotypic presentation, the genotype/phenotype relationships for the mutations causing partial androgen insensitivity syndrome remain unclear. (medscape.com)
The N-terminal domain encoded by exon 1 of the AR gene contains a substantial number of mutations. (medscape.com)
Mutations in this gene have been associated with X-linked mental retardation. (novusbio.com)
Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. (universite-paris-saclay.fr)

Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
Recent evidence suggests that children withKlinefelter syndrome are born with spermatogonia and lose large numbers of germ cellsduring puberty. (health-abstracts.com)

Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological, or other disorders. (scitechdaily.com)
This chromosome holds extra copies of genes, which interfere using the growth of the testicles and suggest they create less testosterone (male sex hormones) than typical. (alvamater.com)

Mutation analysis of the androgen receptor gene is now commercially available. (medscape.com)
The basic etiology of androgen insensitivity syndrome is a loss-of-function mutation in the androgen receptor (AR) gene. (medscape.com)

XIST is the gene responsible for inactivating the genes of the X chromosome, producing RNA that triggers inactivation. (msdmanuals.com)

This Klinefelter syndrome, despite its high prevalence and study focuses on new developments in reproductive plethora of urological symptoms, has drawn marginal biology and medicine in men with Klinefelter syndrome. (health-abstracts.com)

Methods: XY rats were produced with an autosomal transgene of Sry , the testis-determining factor gene, which were fathers of XX and XY progeny with testes. (bvsalud.org)
5, 7, 8] For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. (medscape.com)
The critical gene for male sex determination, SRY (sex-determining region Y), which is located on chromosome Yp11.3, initiates gonads to differentiate into testes, induces Leydig cells to secrete testosterone, develops Wolffian ducts, and forms male external genitalia. (e-kjgm.org)

Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)
Disorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). (biomedcentral.com)
These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. (biomedcentral.com)
Recurrent pathogenic gene dosage disorders have been associated with increases in risk for several neuropsychiatric phenotypes, including autism spectrum disorder (ASD), bipolar disorder, and schizophrenia [ 2 ]. (biomedcentral.com)

The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)

Although the classic description of men with Klinefelter Urologists are in a unique position to address long-term syndrome emphasized tall eunuchoid body proportions, care of patients with Klinefelter syndrome in respect to low testosterone, sparse facial and pubic hair, small hard their reproductive and sexual function. (health-abstracts.com)
You inherited a lot of great traits from your dad, but there's a chance he also passed down a gene that's squashing your testosterone. (levationhhc.com)

The best available data suggest an androgen insensitivity syndrome incidence of approximately 1 case per 20,400 liveborn males. (medscape.com)
Men and males with Klinefelter syndrome are nevertheless genetically male, and frequently will perhaps not realise they usually have this chromosome that is extra but sporadically it may cause issues that may need treatment. (alvamater.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)

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)

Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)

Its phenotype is changing from single lesions to multiple lesions owing to the reduction in estrogen exposure and increasing incidence of obesity and metabolic syndrome as driving factors in the formation of hepatic adenoma. (medscape.com)

MicroRNAs (miRNAs) are endogenous short non-coding RNA molecules that can post-transcriptionally regulate gene expression and play a critical role in gonadal differentiation as well as early development of animals. (peerj.com)

Early diagnosis and treatment can improve the quality of life and theoverall health of men with Klinefelter syndrome. (health-abstracts.com)
Diagnosis and management of patients with Klinefelter syndrome iswithin the scope and training of urologists. (health-abstracts.com)

Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology. (biomedcentral.com)

In many cases, however, the genes in a sSMCs are active, over-expressed, and considered causes of the associated sSMC's disorder. (wikipedia.org)

Klinefelter problem just isn't necessarily such a thing severe, but therapy often helps reduce a few of the signs if required. (alvamater.com)

Genetics Genetics Genetics is the study of genes and their functions and behaviors. (lecturio.com)

However, recent research has shown that gene and protein networks under non-hormonal control also account for cardiac sex differences. (bvsalud.org)
This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. (novusbio.com)
Recent basic cgmp activates cgmp-specific protein kinase c, and his colleagues have pro- posed that the blurring of a microphallus, often requires molec- ular detection of klinefelter syndrome: A randomized endothelial nitric oxide (fig. Mammary stimulation causes prolactin secretion or activity of dc, mlc, and ns dopaminergic neurons. (ben.edu)

Klinefelter problem doesn't often cause any symptoms that are obvious in childhood, and also the subsequent signs can be tough to spot. (alvamater.com)
Visit your GP in yourself or your son if you have concerns about your son's development or you notice any troubling symptoms of Klinefelter syndrome. (alvamater.com)

Understanding the diversity of SCDC mechanisms in nature, how they happen and evolve, informs more broadly on how animals and humans compensate for gene dose imbalance, and why the failure to properly compensate for these differences leads to disease states," Valenzuela said. (scitechdaily.com)
These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY . (e-kjgm.org)
Until recently, it was unknown how sexual differences in the behavior, physiology, and development of organisms are regulated by differential gene expression. (peerj.com)

Integrative multi-omics analysis revealed a critical role for UTX in regulating chromatin accessibility and gene expression critical for NK cell homeostasis and effector function. (bvsalud.org)

Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
In addition, two subjects showed duplications of the 22q11/DiGeorge syndrome region. (biomedcentral.com)

Valenzuela and her co-authors sampled softshell turtles at various stages of development, including embryos, young hatchlings and adults, and analyzed various tissues to determine which genes were activated. (scitechdaily.com)

Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.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)
Primary hypogonadism is caused by defects of the gonads, such as Klinefelter s syndrome or Leydig cell aplasia, while secondary hypogonadism hypogonadotropic hypogonadism is the failure of the hypothalamus or pituitary to produce sufficient gonadotropins FSH, LH, winstrol for fat loss. (singaporenewlaunch.org)
Computed Tomography of the Anterior Skull Base in Kallmann Syndrome Reveals Specific Ethmoid Bone Abnormalities Associated With Olfactory Bulb Defects. (universite-paris-saclay.fr)

But the researchers say their findings shed light on the evolutionary role of sex chromosome dosage compensation in many species. (scitechdaily.com)
The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (scitechdaily.com)
What is sex chromosome dosage compensation? (scitechdaily.com)
The study represents not only the first such study to analyze sex chromosome dosage compensation in turtles, but the findings also show that remarkably, temperature appears to affect the SCDC process in the turtles. (scitechdaily.com)

is it a wonder that our genome too is filled with the remains of extinct genes? (drwile.com)

Klinefelter patients manifest language delay and learning and behavioral problems [18]. (biobender.com)
In somestates, screening programs for Klinefelter syndrome are already in place, which willincrease the number of patients with Klinefelter syndrome seen by practicing urologistsin the near future. (health-abstracts.com)
Development of randomized clinical trialscomparing different forms of interventions in men and children with Klinefelter syndromewill allow us to standardize the care of these patients. (health-abstracts.com)
An abnormal apelin/vasopressin balance may contribute to water retention in patients with the syndrome of inappropriate antidiuretic hormone (SIADH) and heart failure. (universite-paris-saclay.fr)

One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)

The causes of male breast cancer can be due to an inherited gene mutation. (icliniq.com)

Medical care for a patient with androgen insensitivity syndrome (AIS) has 2 aspects: hormone replacement therapy (HRT) and psychological support. (medscape.com)
The patient with Klinefelter syndrome continuestestosterone replacement therapy. (health-abstracts.com)

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Klinefelter problem isn't straight inherited - the extra X chromosome does occur as a result of either the caretaker's egg or the father's semen getting the additional X chromosome (the same possibility of this taking place in either), so after conception the chromosome pattern is XXY in place of XY. (alvamater.com)

This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insensitivity syndrome (PAIS), depending on the amount of residual receptor function. (medscape.com)
Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)
2, 3, 4, 5, 6] The phenotype of individuals with partial androgen insensitivity syndrome may range from mildly virilized female external genitalia (clitorimegaly without other external anomalies) to mildly undervirilized male external genitalia (hypospadias and/or diminished penile size). (medscape.com)

Lippincott Williams & Wilkins translational scientists with an update on pathophysiol- ogy and management of Klinefelter syndrome. (health-abstracts.com)

A similar pattern was found for moesin gene expression, which was reduced by t in female mrl/lpr lacrimal glands (affy = 3. (levationhhc.com)
Because of this, Ohno suggested that during evolution, the expression of genes on the X chromosome was boosted by a factor of 2. (drwile.com)
They show that the expression of genes coming from the X chromosome in mice and people is (on average) half as much as the expression of genes coming from any autosome pair. (drwile.com)

Individuals with complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus. (medscape.com)
Many men and guys with Klinefelter problem will never be notably impacted and certainly will live normal, healthier life. (alvamater.com)

Anatomy3

Diseases17

Chemicals and Drugs3

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Psychiatry and Psychology2

Phenomena and Processes9

Anthropology, Education, Sociology and Social Phenomena1

Named Groups1

Chromosomes16

Nonmosaic3

Testicular9

Genetic6

Infertility2

Karyotype4

Klinefelter's Syndrome4

Chromosomal aberration1

Sperm3

Autosomes3

Mutations6

Puberty2

Copies of genes2

Androgen Receptor2

Inactivation1

Prevalence1

Testes3

Disorders4

Involvement1

Testosterone2

Males2

Common chromosomal1

Turner1

Variants1

Metabolic syndrome1

Differentiation1

Diagnosis2

Aneuploidy1

Considered causes1

Severe1

Genetics1

Protein3

Symptoms2

Differences3

Chromatin1

Duplications2

Adults1

Hormonal1

Defects3

Compensation4

Genome1

Patients4

Alleles1

Mutation1

Replacement therapy2

Extra3

Partial3

Management1

Expression3

Normal2