Previously sex chromosome disorders. Medical search. Frequent questions

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)
The term sex-linked refers to genes on the Sex chromosomes (usually the larger chromosome "X") [6] . (physio-pedia.com)

Partial XCR may derepress one or more genes on the Xi, and the level of restored gene expression may not be as high as it would normally be on the active X chromosome (the Xa). (wikipedia.org)
In XY males, the activation of the sex-determining region Y chromosome gene (SRY) initiates testis development. (scielo.org.za)
Future studies should investigate gene-by-environment interactions and employ functional imaging to understand how salience network structure translates to psychiatric disorder risk. (nature.com)
A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (medlineplus.gov)
The paper appears online in the journal Proceedings of the National Academy of Sciences and describes the gene, which is associated with a neurological disorder in humans. (sciencedaily.com)
Although the gene does not yet have any known function in birds, in humans it is associated with the neurodegenerative disorder chorea-acanthocytosis, which affects movement. (sciencedaily.com)
Sex determination in mammals is controlled by the presence or absence of the Y-linked gene SRY . (plos.org)
In the developing male (XY) gonad, sex-determining region of the Y (SRY) protein acts to up-regulate expression of the related gene, SOX9 , a transcriptional regulator that in turn initiates a downstream pathway of testis development, whilst also suppressing ovary development. (plos.org)
The Y-linked sex determining gene SRY regulates this process by initiating a pathway of gene and protein expression, including the expression of critical autosomal genes such as SOX9 . (plos.org)
Analysis of embryonic XY gonads suggests that sex reversal is caused by delayed and reduced expression of the sex-determining gene SRY . (plos.org)
Autosomal" means that the gene in question is located on one of the numbered, or non-sex, chromosomes. (genome.gov)
Dominant" means that a single copy of the mutated gene (from one parent) is enough to cause the disorder. (genome.gov)
By contrast, an autosomal recessive disorder requires two copies of the mutated gene (one from each parent) to cause the disorder. (genome.gov)
Recessive" means that two copies of the mutated gene (one from each parent) are required to cause the disorder. (genome.gov)
By contrast, an autosomal dominant disorder requires only a single copy of the mutated gene from one parent to cause the disorder. (genome.gov)
We discovered a very large uncharacterized gene containing WD40 and SH3 domains ( AHI1 ), and extended the annotation of four previously characterized genes ( MYB , ALDH8A1 , HBS1L and PDE7B ). (biomedcentral.com)
Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. (ox.ac.uk)
The orphan G protein-coupled receptor 78 (GPR78) gene lies within a region of chromosome 4p where we have previously shown linkage to bipolar affective disorder (BPAD) in a large Scottish family. (ox.ac.uk)
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)
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)
the X and the Y. Women have a pair of X chromosomes whilst men have an X and a Y. The Y chromosome is small and contains one small gene that acts as a master switch turning on the whole range of other genes that eventually give rise to a male body. (gendercentric.org)
Females have two X chromosomes and thus redundant copies of the blood coagulation factor gene. (christinacherry.com)
A woman who inherits a mutated copy on an X chromosome has also inherited a second X chromosome from the other parent who probably carries an unmutated copy of the gene capable of directing a suitable coagulation. (christinacherry.com)
It's unclear exactly how long ago inherited bleeding disorders entered the human gene pool. (paragonhealthcare.com)
Because the Y chromosome does not include any genes (genetic instructions) for creating clotting factors, a male who receives a bleeding disorder gene from his mother will have the disorder. (paragonhealthcare.com)
And this is where it gets tricky: a female could receive the mutated hemophilia genes from either her mother or her father, but as long as she gets a fully functioning clotting factor gene from her other parent, she will not have a full-blown bleeding disorder. (paragonhealthcare.com)
In even rarer cases, a genetically heterozygous female (a mutated gene from one parent, but not the other) could have bleeding symptoms as severe as a male with a diagnosed bleeding disorder. (paragonhealthcare.com)
In any case, a heterozygous female is still a carrier of the gene for the full disorder and could pass it to her children. (paragonhealthcare.com)
With the recent completion of the canine and feline genome sequences, the unique traits of breeds, many hereditary disorders and genetic predispositions to disease have been characterized from the clinical signs to the gene defect. (vin.com)
Today, understanding the true risk of adverse events in long-QT syndrome (LQTS) populations may be extremely complex and potentially dependent on many factors such as the affected gene, mutation location, degree of QTc prolongation, age, sex, and other yet unknown factors. (medscape.com)

According to her parent, the patient has been previously diagnosed with a chromosomal abnormality . (osmosis.org)
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. (genome.gov)
Turner syndrome, a genetic condition caused by an abnormality on one of your sex chromosomes. (healthcareweekly.com)

Moreover, questions remain regarding sex differences in the activity of the HPA axis following chronic stress and the underlying contributions of gonadal hormones and sex chromosomes. (nature.com)

On the C57BL/6J background, embryos homozygous for byg exhibit consistent XY gonadal sex reversal. (plos.org)
We identified a mouse mutant that causes embryonic gonadal sex reversal: the development of ovaries in an XY embryo. (plos.org)

Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Although there is strong evidence for the role of a genetic component in language disorder, we do not know which genes contribute to this disorder or how the inheritance of language problems work. (brookes.ac.uk)
For approximately half of the disorders suspected to be of a genetic nature the mode of inheritance remains, however, unknown. (vin.com)

The Lyon hypothesis also accounted for the findings that one copy of the X chromosome in female cells was highly condensed, and that mice with only one copy of the X chromosome developed as infertile females. (wikipedia.org)
This suggested to Ernest Beutler, studying heterozygous females for glucose-6-phosphate dehydrogenase (G6PD) deficiency, that there were two red cell populations of erythrocytes in such heterozygotes: deficient cells and normal cells, depending on whether the inactivated X chromosome (in the nucleus of the red cell's precursor cell) contains the normal or defective G6PD allele. (wikipedia.org)
Females (XX) carry two X chromosomes. (physio-pedia.com)
Females born with one less X chromosome have Turner syndrome and appear as females. (sciencenews.dk)
Males and females with an extra X chromosome and thus Klinefelter syndrome are extra tall. (sciencenews.dk)
Recent studies of bleeding disorders have revealed that females, previously thought to be only carriers of hemophilia genes, can experience full symptoms in certain situations. (paragonhealthcare.com)
Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes. (msdmanuals.com)

Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
A person's arrangement of chromosomes determines their biological sex, either XX (female), XY (male), or any number of combinations that would be considered intersex. (paragonhealthcare.com)
The biological elements involve genetic, hormonal and morphological sex aspects from which result in a person's physical configuration. (bvsalud.org)
13-15 Determination of gender using a person's genetic, hormonal and morphologic sex may be impaired if there is no psychological identification with the gender into which a person is categorized (psychological gender), or depending on the social acceptance of this person toward one of the genders (social gender). (bvsalud.org)

If a male inherits a mutated X-chromosome he will be affected by the condition whether it is dominant or recessive. (physio-pedia.com)

The majority of these differences occurred in a small region on the bird's Z chromosome, a sex-determining chromosome like the X and Y chromosomes in humans. (sciencedaily.com)
These data demonstrate that MAP3K4-dependent signalling events are required for normal expression of Sry during testis development, and create a novel entry point into the molecular and cellular mechanisms underlying sex determination in mice and disorders of sexual development in humans. (plos.org)
We predict that loss of MAP3K4 or other MAPK components may underlie disorders of sexual development (DSD) in humans as well. (plos.org)
In humans, aneuploidy would be any number of chromosomes other than the usual 46. (genome.gov)
As is fairly well-recognized humans have 46 chromosomes, of which 44 are composed of almost identical pairs. (gendercentric.org)

These gonadal hormones are produced by the hypothalamic-pituitary-gonadal (HPG) axis and have been shown to determine sex differences in adult HPA function after acute stress via their activational and organizational effects. (nature.com)
Although these actions of gonadal hormones are well supported, the possibility that sex chromosomes similarly influence HPA activity is unexplored. (nature.com)
We primarily outline what is known about how gonadal hormones and sex chromosomes modulate HPA axis activity following acute stress, and then focus on sex-biased HPA axis activity post-chronic stress, which is far less well understood. (nature.com)
Babies in which there is a mismatch between the body's hormones and those key chromosomes - estimated at about 1 in 15,000 - may be sexually indeterminate or 'intersex', and are usually assigned by surgery and medical intervention to live their lives as either male or female. (gendercentric.org)
Research on the genetic mechanism of sex dimorphism in ADHD has mainly focused on X or Y chromosome genes, with comparatively less attention given to genes related to sex hormones. (psychiatryinvestigation.org)
Two biological factors are important for understanding sex differences: sex hormones and sex chromosome effects ( McCarthy and Arnold, 2011 ). (jneurosci.org)

In this review, we explore the role of biological sex in the development of the brain and analyze its impact on the predisposition toward and the progression of neurodegenerative diseases. (mdpi.com)
Researchers have previously explained the gender differences in ADHD from three aspects: biological factors, sociocultural factors, and gender bias in diagnostic. (psychiatryinvestigation.org)
Sex refers to the biological orientation that is either male or female. (supremeassignments.com)
Human intersex is an organic phenomenon resulting from an imbalance between the factors and events responsible for sexual determination and differentiation, which takes place when an individual's body presents ambiguities, anomalies or inconsistencies in the biological components of his or her sexual identity, i.e., in his or her sex chromosomal, hormonal and/or morphological sex 2 . (bvsalud.org)

Disorders of sexual development (DSD), formerly termed 'intersex', are congenital abnormalities in the development of chromosomal (abnormalities in XX or XY sex chromosome number or structure), gonadal (testicular, ovarian and ovotesticular DSD, previously termed true hermaphrodite, or dysgenesis) or phenotypic (male or female with abnormalities of tubular and external genitalia) sex. (scielo.org.za)
Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
In the 1960's female athletes were made to parade nude in front of physicians to verify the presence of appropriate genitalia and other external sex characteristics but process this might not detect a chromosomal intersex condition e.g. someone with XY chromosomes but female genitalia. (gendercentric.org)

Estrogen, which plays an important role in establishing neural and behavioral sex differences, has been suggested to be related to the sexual dimorphism of ADHD by some scholars [ 7 , 8 ]. (psychiatryinvestigation.org)

Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
We have previously reported on seven 46,XX true hermaphrodites and one 45,X mixed gonadal dysgenesis case all presenting with testicular tissue in their gonads in the apparent absence of Y-specific DNA sequences. (nih.gov)
The hormonal sex is determined through the gonads, testicles in men, and ovaries in women, as well as by other glands (pituitary and thyroid) responsible for male and female traits. (bvsalud.org)

Based on the updated classification and new nomenclature recommendations put forth by the 2006 International Intersex Consensus Conference1, the Disorders of Sex Development (previously Sex Differentiation Disorders) trees and descriptors were revised and updated. (bvsalud.org)

Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)
This is known as a complex genetic disorder. (brookes.ac.uk)
Ornithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder of the urea cycle that leads to elevated levels of ammonia in the blood. (medscape.com)

Early in the study of XCI in early embryonic development, the original state of the two X chromosomes and the mechanism by which they differentiated into the Xa and Xi was unknown. (wikipedia.org)
Disorders of sexual development (DSD) in wild mammals are rarely described. (scielo.org.za)
Courtesy of Cureus [De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. (medscape.com)
Online at https://www.cureus.com/articles/70052-ovotesticular-disorder-of-sex-development-approach-and-management-of-an-index-case-in-the-dominican-republic]. (medscape.com)
Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)
Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)
Their action is crucial for the development of the brain, which presents different characteristics depending on the sex of individuals. (mdpi.com)
Researchers working on the Study to Explore Early Development (SEED) have recently published many studies reporting on important findings related to autism spectrum disorder (ASD). (cdc.gov)
This SNP mapped to a locus on chromosome 5q35.2 harboring genes involved in neuronal development and regeneration. (nature.com)
In mammals, whether an individual develops as a male or female depends on its sex chromosome constitution: those with a Y chromosome become males because of the development of the embryonic gonad into a testis. (plos.org)
Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
Stevens was able to interpret her data to conclude that chromosomes have a role in sex determination during development. (asu.edu)

Fabry disease, or Anderson-Fabry disease, is a rare X-linked hereditary lysosomal storage disorder characterized by deficient enzyme activity of alpha-galactosidase A. This enzyme is a lysosomal hydroxylase that when deficient causes an abnormal systemic accumulation of the glycosphingolipid ceramide trihexoside in various tissue and organs. (hcplive.com)
The topic of clinical genetics in small animals has often been overlooked by veterinarians, presumably because hereditary disorders were thought to occur rarely in clinical practice, to offer relatively little for a clinician to do, or to represent an area where clinicians defer to breeders or academic institutions. (vin.com)
The molecular genetic defect is now known for ~60 hereditary disorders in dogs and ~20 in cats. (vin.com)

Now, individuals with sex chromosome disorders have aneuploidy , meaning that there's a missing or extra sex chromosome. (osmosis.org)

Attention deficit hyperactivity disorder (ADHD) is a polygenic neurodevelopmental disorder with significant gender differences. (psychiatryinvestigation.org)
Attention deficit hyperactivity disorder (ADHD) is a common childhood neurodevelopmental disorder, affecting 5%- 11% of children [ 1 , 2 ]. (psychiatryinvestigation.org)

X chromosome reactivation (XCR) is the process by which the inactive X chromosome (the Xi) is re-activated in the cells of eutherian female mammals. (wikipedia.org)
Therian female mammalian cells have two X chromosomes, while males have only one, requiring X-chromosome inactivation (XCI) for sex-chromosome dosage compensation. (wikipedia.org)
In 1961, Mary Lyon proposed the random inactivation of one female X chromosome to explain the mottled phenotype of female mice heterozygous for coat color genes. (wikipedia.org)
out of which 22 pairs are autosomal, and 1 pair consists of sex choromosomes, which can be X or Y. Generally, an individual with two X chromosomes, or 46,XX is considered to be genetically female. (osmosis.org)
If a female carries a normal X-chromosome and a mutated X-chromosome. (physio-pedia.com)
Thus, a normal female will have the genotype XX (both X chromosomes contain a normal copy of F8 or F9), while a phenotypically normal carrier female with a normal clotting cascade and no evidence of hemophilia will be Xx (one normal, one mutant F8 or F9). (nakedcapitalism.com)
The sex-linked X chromosome disorder manifests almost exclusively in males, although the genetic mutation causing the disorder is localized on the X chromosome and can be inherited from the mother of male children or the mother or father of female children. (christinacherry.com)
Female animals have two X chromosomes, whereas males have one X and one Y chromosome. (christinacherry.com)
Thus, when a female embryo arises, each of them gets a chromosome of mother and father. (christinacherry.com)
A female can be diagnosed with full-blown hemophilia when her parents both pass on an X chromosome with a mutated bleeding disorder allele. (paragonhealthcare.com)
The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)

Our data indicate, for the first time, a requirement for MAPK signaling in the developing XY gonad in order to facilitate normal expression of SRY and the downstream testis-determining genes and also suggest that reduced dosage of MAP3K4 may be the cause of a previously described autosomal sex-reversing mutation in the mouse. (plos.org)

The morphological sex refers to the appearance of internal and external genitals, whereby the presence of primary and secondary sex features must be analyzed to check for correspondences between them. (bvsalud.org)

We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. (biomedcentral.com)

The results show that having too many or too few X chromosomes can affect the entire body's regulatory process. (sciencenews.dk)

Correspondingly, upregulation of surface GluA1 AMPA receptors is reduced in MVP+/- mice after extended MD, and is accompanied by altered expression of STAT1 and phosphorylated ERK, which have been previously implicated in OD plasticity. (eur.nl)

Despite the requirement for a number of transcription factors and secreted signalling molecules in sex determination, intracellular signalling components functioning in this process have not been defined. (plos.org)
A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)

Disorders in which intracellular material that cannot be metabolized is stored in lysosomes are called lysosomal storage diseases. (nih.gov)

In social situation, this definition is inappropriate and largely supported by other secondary sex characteristics such as breasts and bone structure. (supremeassignments.com)

In mice, Xi reactivation is known to occur in three developmental stages: In the oocyte after fertilization, the paternal X chromosome is reactivated, reversing male meiotic sex chromosome inactivation (MSCI). (wikipedia.org)
Most often, this results from nondisjunction, which can occur in the egg or sperm cell during meiosis 1 or 2, where a chromosome pair or sister chromatid respectively doesn't split apart. (osmosis.org)
Haemophilia is transmitted through a defective X chromosome, although it does not necessarily occur recessively in every generation. (christinacherry.com)
In that case, the other X chromosome (which would allow her to produce clotting factor per usual) is either missing or otherwise damaged, which could occur for many genetic reasons. (paragonhealthcare.com)
Gender identity disorders occur when people feel they are trapped in the wrong body. (supremeassignments.com)

In follow-up analyses, rs17076061 was not robustly associated with psychiatric disease, and no overlap was found between the broader genetic architecture of the common substrate and genetic risk for major depressive disorder, bipolar disorder, or schizophrenia. (nature.com)
that compared 7381 psychiatric patients from six diagnostic groups (schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), addiction, obsessive-compulsive disorder, and anxiety) with 8511 psychiatrically healthy controls using voxel-based morphometry (VBM) from structural magnetic resonance imaging (MRI) 1 . (nature.com)

identified six AF susceptibility loci ( PRRX1 , CAV1 , C9orf3 , SYNPO2L , SYNE2 , and HCN4 ) in addition to three previously reported loci ( PITX2 , ZFHX3 , and KCNN3 ) by a genome-wide association study (GWAS) conducted in individuals of European ancestry. (nature.com)
Microdeletion of a region in chromosome 16p11.2 increases susceptibility to autism. (eur.nl)

Haemophilia is the most commonly known haemorrhagic disorder causing bleeding due to defects in the coagulation factors. (physio-pedia.com)
In our lab, we are trying to identify genetic factors that might play a role in these disorders. (brookes.ac.uk)
Most inherited bleeding disorders are caused by genetic mutations that prevent the production of essential proteins called clotting factors. (paragonhealthcare.com)

Here we report a role for the phylogenetically ancient mitogen-activated protein kinase (MAPK) signalling pathway in mouse sex determination. (plos.org)
In the books Stevens explains the research she conducted on chromosomal sex determination in the sperm and egg cells of insect species while at Bryn Mawr College, near Philadelphia, Pennsylvania. (asu.edu)
Studies in Spermatogenesis described early examples of chromosomal XY sex-determination. (asu.edu)
The Governor previously directed DFPS to issue a determination on this matter last week. (fox7austin.com)

Men have only one X chromosome inherited from their mother and have also received a Y chromosome from their father instead of a second X. If your only X chromosome contains the hemophilia mutation, unlike women, you will not have a second copy to ensure normal function. (christinacherry.com)
A woman is rarely affected by hemophilia when she inherits mutant X chromosomes from both a hemophiliac father and a host mother. (christinacherry.com)
In hemophilia this affects the so-called X chromosome. (christinacherry.com)
For the sake of this article, we will be focusing specifically on the most common inherited bleeding disorders, Hemophilia A and B and von Willebrand Disease. (paragonhealthcare.com)

Intrusive memories and flashbacks after trauma are prominent in several mental disorders, including post-traumatic stress disorder and can persist for years. (researchgate.net)
1973 was an important year for the LGBT community as the American Psychiatric Association removed from the Diagnostic and Statistical Manual of Mental Disorders their definition of homosexuality. (ukessays.com)

Multiple theories about what determines sex were tested at the turn of the twentieth century. (asu.edu)

HA and HB are both X-linked recessive disease [1], meaning that the genes for F8 and F9 are on the X chromosome and males have the disease with they get the X chromosome with the mutant ( x ). (nakedcapitalism.com)

It is known that in the inner cell mass (the embryo proper) of mice, XCI occurs randomly, while in the extra-embryonic tissues, imprinted XCI deterministically inactivates the paternal X. In early mouse embryos, the paternal X chromosome is already partially silenced at the zygote stage by imprinted XCI, suggesting that sex-chromosome dosage compensation exists from conception. (wikipedia.org)
MVP+/- mice of both sexes show impairment in strengthening of open-eye responses after several days of monocular deprivation (MD), whereas closed-eye responses are weakened as normal, resulting in reduced overall OD plasticity. (eur.nl)

Niemann-Pick disease is a group of autosomal recessive disorders caused by an accumulation of fat and cholesterol in cells of the liver, spleen, bone marrow, lungs, and, in some instances, brain. (nih.gov)

Five of CDC's ADDM Network sites (Arkansas, Georgia, Maryland, Utah, and Wisconsin) began monitoring autism spectrum disorder (ASD) in 2018 among 16-year-old adolescents who were initially identified as having characteristics of ASD in 2010. (cdc.gov)
Males born with an extra X chromosome have Klinefelter syndrome (47,XXY) and have male characteristics. (sciencenews.dk)
Having too many or too few sex chromosomes results in several more or less clear characteristics. (sciencenews.dk)

It has previously been shown that specific microdeletions and microduplications, many of which also associated with cognitive impairment (CI), can present with autism spectrum disorders (ASDs). (biomedcentral.com)
It may allow us to identify new kinds of language disorders and will clarify the relationships between language impairment and other developmental disorders. (brookes.ac.uk)

The daughter of a male hemophile will always inherit his mutation, while a son can never inherit it, as he receives the father's Y chromosome, but not his X chromosome. (christinacherry.com)

Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)

A presentation of Fabry disease may be more common than was previously thought, which has a greater impact on the approach to and diagnosis of this disease in the clinical setting. (hcplive.com)
Significant sex differences in clinical symptoms, brain structure and function have also been reported in numerous studies of ADHD patients [ 6 ]. (psychiatryinvestigation.org)
These disorders have been a part of the human species' genetic experience for millennia, but recent innovations in clinical research and mapping human genetics have advanced our understanding further than ever before. (paragonhealthcare.com)
In this study, CNVs were extracted from clinical exome sequencing reports of 4800 probands primarily with a movement disorder, myopathy or neuropathy. (cdc.gov)
As a result homosexuality was no longer classed as a clinical mental disorder - as something abnormal that needed medical treatment. (ukessays.com)

Rett syndrome is a brain disorder that occurs almost exclusively in girls. (medlineplus.gov)

C) on chromosome 4q25 with atrial fibrillation (AF), but phenotype alterations conferred by this SNP have not been described. (nature.com)

Research in my lab centres around genetic contributions to speech, language and Communication Disorders (SLCDs). (brookes.ac.uk)

People with the rare chromosome disorders Turner syndrome and Klinefelter syndrome differ in the expression of circular RNA. (sciencenews.dk)
We thought that since we had previously found that the mRNA expression and methylation differ among people with Turner syndrome and Klinefelter syndrome, then perhaps the entire process that controls regulation in the body may also have been altered," explains Claus Højbjerg Gravholt. (sciencenews.dk)
The researchers found changes in circular RNA in fat tissue, the muscles and the blood that differ between people with either Klinefelter syndrome or Turner syndrome and people with the normal numbers of chromosomes. (sciencenews.dk)

Genetic variants in a region on chromosome 6 are associated with risk of rheumatoid arthritis. (hum-molgen.org)
Two additional subjects showed smaller, de novo duplications of the PWA region that had not been previously characterized. (biomedcentral.com)

On the other hand, an individual with one X and one Y chromosome, or 46,XY is genetically male. (osmosis.org)
She could also experience the full disorder if she is genetically heterozygous. (paragonhealthcare.com)

Although it is not beneficial to be born with one extra or one less chromosome, researchers have not thoroughly understood how this affects the body. (sciencenews.dk)
Our discovery shows that being born with an extra or one less X chromosome affects an entire regulatory process: some parts of the process are upregulated and others downregulated. (sciencenews.dk)

The other, favored hypothesis that was eventually validated was that both maternal and paternal X chromosomes are active until some mechanism inactivates one chromosome. (wikipedia.org)

Although it primarily focuses on the rodent literature, a brief discussion of sex differences in the human HPA axis is also included. (nature.com)
We conclude with a brief discussion of sex differences in the human HPA axis with the caveat that they are less pronounced than in rodents and are largely dependent on the stress modality. (nature.com)
Every human being contains essentially all the genes needed to build a body of either sex. (gendercentric.org)

This study examined the association between insurance status and community-based services received outside of school among preschool-aged children with a prior autism spectrum disorder (ASD) diagnosis. (cdc.gov)

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. (cdc.gov)

CNVs varied from involvement of over 100 genes to single exons and explained X-linked, autosomal dominant, or - recessive disorders, the latter due to either a homozygous CNV or a compound heterozygous CNV with a sequence variant on the other allele. (cdc.gov)

Much of what is known about sex differences in the stress-induced activity of the HPA axis and their underlying mechanisms comes from studies done in rodents. (nature.com)

The percentage may seem low, but it's quite significant in a group for whom no diagnoses were previously available. (jax.org)
The hemoglobinopathies represent the most common category of clinically significant inherited disorders, causing a huge burden on global health [ 1 ]. (biomedcentral.com)

In addition, you perform a karyotype analysis on his cells and find 47 chromosomes, among which there's two X chromosomes and one Y chromosome. (osmosis.org)
By experimenting on germ cells, cytologist Nettie Maria Stevens collected evidence to support the connection between heredity and the sex of offspring. (asu.edu)
Lipid storage diseases (also known as lipidoses) are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. (nih.gov)

A retrospective meta-analysis of magnetic resonance imaging voxel-based morphometry studies proposed that reduced gray matter volumes in the dorsal anterior cingulate and the left and right anterior insular cortex-areas that constitute hub nodes of the salience network-represent a common substrate for major psychiatric disorders. (nature.com)
hypothesized that lower GM of this network represents a common neurobiological substrate for psychiatric disorders 1 . (nature.com)
Interestingly enough one of the more common disorders has made beautiful women of babies who were technically born male. (gendercentric.org)

Anatomy17

Organisms2

Diseases7

Analytical, Diagnostic and Therapeutic Techniques and Equipment5

Phenomena and Processes29

Genes on the sex chromosomes2

Gene30

Abnormality3

Regarding sex differences1

Gonadal sex2

Inheritance4

Females7

Person's4

Inherits a mutated1

Humans5

Hormones6

Biological4

Genitalia3

Sexual dimorphism1

Gonads3

Intersex1

Genetic disorder4

Development12

Hereditary3

Aneuploidy1

Neurodevelopmental2

Female11

Testis1

Refers1

Locus1

Body's1

Receptors1

Transcription factors2

Intracellular1

Secondary1

Occur5

Schizophrenia2

Susceptibility2

Factors3

Determination4

Hemophilia4

Mental disorders2

Determines1

Mutant1

Mice2

Autosomal recessive1

Characteristics3

Impairment2

Mutation1

Autism Spectrum1

Clinical5

Almost exclusively1

Phenotype1

Contributions1

Turner3

Region2

Genetically2

Affects2

Mechanism1

Human3

Diagnosis1

Rarely1

Heterozygous1

Mechanisms1

Significant2

Cells3

Common3