AnatomyOrganismsDiseasesAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Sex Chromosome DisordersSex Chromosome Disorders of Sex DevelopmentSex ChromosomesChromosome DisordersChromosomesSex Chromosome AberrationsSyndromeChromosome MappingX ChromosomeY ChromosomeChromosome BandingChromosomes, Human, XChromosome AberrationsChromosomes, Human, YSex Determination ProcessesChromosome PairingChromosomes, PlantSileneKaryotypingX Chromosome InactivationIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 1Chromosomes, HumanChromosome SegregationGenes, Y-LinkedKlinefelter SyndromeGenes, X-LinkedChromosomes, Human, Pair 21AneuploidyChromosomes, Artificial, BacterialChromosomes, Human, Pair 7Chromosome PaintingSex CharacteristicsChromosomes, BacterialChromosome DeletionChromosomes, Human, Pair 11PlatypusChromosomes, InsectChromosomes, Human, Pair 17MeiosisSex Chromatin
GenesKlinefelter SyndromeFemalesAbnormalAbnormalitiesPairsAbnormalityAneuploidyAneuploidiesOccursCongenitalHormonesCopy of chromosome 21Genetic disordersPair of chromosomesDetermines the sexGeneTurner'sPatauDeletionsOrgansCopies of each chromosomeGeneticsDiseasesGirls with Turner syndromeHereditaryTrisomy23rd pairHumansChromosomal disorderHypogonadismDeletionOccurTurner-syndromeAutosomesKlinefelter's SyndromeTemperature-dependent sexDevelopmentalAutism SpectrumSomaticDown'sPrevalenceHaploinsufficiencyDeterminationEmbryoFertilizes an eggCommonOrganismsAnalyzeHumanProteinsAutosomal dominantRefersPhenotypicNeurodevelopmentalSperm cellsHormone replaceAdolescentExtraShort statureChild's
Genes32
  • The human sex chromosomes, a typical pair of mammal allosomes, carry the genes that determine the sex of an individual created in sexual reproduction. (wikipedia.org)
  • Autosomes are homologous chromosomes i.e. chromosomes which contain the same genes (regions of DNA) in the same order along their chromosomal arms. (wikipedia.org)
  • The deactivated X chromosome is silenced by repressive heterochromatin that compacts the DNA and prevents expression of most genes. (wikipedia.org)
  • There is a gene in the Y chromosome that has regulatory sequences that control genes that code for maleness, called the SRY gene. (wikipedia.org)
  • This is because even flowering plants have a variety of mating systems, their sex determination primarily regulated by MADS-box genes. (wikipedia.org)
  • These genes code for proteins that form the sex organs in flowers. (wikipedia.org)
  • The X chromosome carries genes that have a role in many organ systems, playing a part, for example, in testes function, brain development, and growth. (medscape.com)
  • Chromosomes are found in the cells of the human body and contain genes (or genetic information). (vcfsef.org)
  • Thus, unevenness in the number of copies of genes that work together can lead to developmental, physiological or other disorders. (newswise.com)
  • But SCDC mechanisms work to upregulate, or increase the level, of protein production from genes in the single Z (or X) chromosomes. (newswise.com)
  • The researchers then compared the activity of genes from sex chromosomes and from autosomes, broken down by male and female turtles. (newswise.com)
  • Those may include: where the MECP2 mutation is located in the gene, how the individuals' sex chromosomes interact, and other genes can make the symptoms worse or protect from the effects of the mutation. (nih.gov)
  • Chromosomes are structures within cells that contain DNA and many genes. (msdmanuals.com)
  • In a healthy person, almost every cell in the body carries 23 pairs of chromosomes, which hold nearly all of the genes needed for human life. (oneofus.eu)
  • developmental language disorders are genetic and is therefore caused (at least in part) by the genes passed on from parents to children. (brookes.ac.uk)
  • 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)
  • In most cases, it is likely that several genes combine to bring about a heightened risk of disorder. (brookes.ac.uk)
  • PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
  • Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). (trisomy.org)
  • Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. (elsevier.com)
  • Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. (elsevier.com)
  • Identifying genes on each chromosome is an active area of genetic research. (news-medical.net)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (news-medical.net)
  • Chromosome 9 likely contains between 800 and 1,300 genes. (news-medical.net)
  • Genes on chromosome 9 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
  • Scientists led by the University of Tennessee Health Science Center (UTHSC) and the École Polytechnique Fédérale de Lausanne (EPFL) in Switzerland are exploring the elaborate interplay between genes, sex, growth, and age and how they influence variation in longevity. (news-medical.net)
  • The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. (preprints.org)
  • Instead, it's partially determined by some of the genes on those chromosomes. (thetech.org)
  • Lots of different genes are all part of determining a baby's biological sex. (thetech.org)
  • The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. (healthywomen.org)
  • The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies. (healthywomen.org)
  • Most genes from the extra X undergo inactivation, but some escape and serve as the putative genetic cause of the syndrome. (mensfe.net)
Klinefelter Syndrome36
Females17
  • These consist of two X chromosomes in most females, and an X chromosome and a Y chromosome in most males. (wikipedia.org)
  • Females therefore have 23 homologous chromosome pairs, while males have 22. (wikipedia.org)
  • since males are XY they can pass along either an X or a Y. Females in such species receive an X chromosome from each parent while males receive an X chromosome from their mother and a Y chromosome from their father. (wikipedia.org)
  • In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. (medlineplus.gov)
  • Autosomal refers to the fact that the deletion is not found on the sex chromosomes and both males and females can be affected. (vcfsef.org)
  • In the case of the softshell turtles included in the study, the sex chromosomes are referred to as Z and W, and it's the females of the species who have mismatched, or ZW, chromosomes. (newswise.com)
  • The study found that both sexes of softshell turtles double the activity of the Zs in early embryonic development, which fixes the expression imbalance in ZW females (twice Z expression now matches autosomal expression). (newswise.com)
  • The females in such organisms are homomorphic having the XX chromosomes while the males are heteromorphic and possess the XY chromosomes. (vedantu.com)
  • So females form only one type of gametes (i.e. the gametes have only X chromosome) while the males form two types of gametes called angiosperms (22 + X) and gymnosperms (22 + Y). So only a mother can produce an abnormal gamete with XX chromosomes as the gamete produced by father can have only one X chromosome. (vedantu.com)
  • In females, the 23 rd pair is two X chromosomes. (chkd.org)
  • A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
  • Turner syndrome is a chromosomal disorder that only occurs in females. (memorialcare.org)
  • Normally, females have two "X" sex chromosomes. (memorialcare.org)
  • Turner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio-emotional phenotypes. (bvsalud.org)
  • Kallman's syndrome (KS) is the most frequent cause of hypogonadotropic hypogonadism and affects approximately one in 10,000 males and one in 50,000 females. (encyclopedia.com)
  • Females have two X chromosomes, while males have one X and one Y chromosome . (encyclopedia.com)
  • Pentasomy X is a rare disorder of the sex chromosomes, which only affects females and is characterized by the presence of five chromosomes "x" (49,xxxxx) instead of two (46,xx). (bvsalud.org)
Abnormal10
  • Eczema is the most common type of dermatitis that occurs in this syndrome, and it causes abnormal patches of red, irritated skin. (medlineplus.gov)
  • If abnormal or missing pieces of one of the X chromosomes occurs, all cells have one complete and one altered copy of the X chromosome. (medicinenet.com)
  • A genetic disorder that causes abnormal development of many parts and systems of the body. (hopkinsmedicine.org)
  • Identifying mismatched and abnormal chromosomes is vital, yes, but when does this turn into selection of a health male or female embryo over the other? (science20.com)
  • An abnormal human baby with 'sex chromosomes XXX' was born due to:A. Fusion of two ova and one spermB. (vedantu.com)
  • An abnormal baby with chromosomes- XXX is called a super female. (vedantu.com)
  • The mother produces gametes with XX chromosome instead of X chromosome which when fuses with the sperm of the father with X chromosome produces an abnormal baby with chromosomes- XXX. (vedantu.com)
  • If one abnormal gene produces disease, this is called a dominant hereditary disorder. (health.am)
  • In the case of a dominant disorder, if one abnormal gene is inherited from mom or dad, the child will likely show the disease. (health.am)
  • In patients with abnormal karyotype ( n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. (who.int)
Abnormalities8
  • 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)
  • Overview of Sex Chromosome Abnormalities Sex chromosome abnormalities may be caused by full or partial deletions or duplications of sex chromosomes. (msdmanuals.com)
  • Olivieri LJ, Baba RY, Arai AE, Bandettini WP, Rosing DR, Bakalov V, Sachdev V, Bondy CA. Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome. (ctsicn.org)
  • Inborn metabolic disorders, which are a specific type of single gene disorder that results in abnormalities in the way the body chemically processes proteins, carbohydrates or fats. (docspot.com)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. (healthywomen.org)
  • Of all the chromosomal abnormalities that result in spontaneous abortion or miscarriage, Turner's syndrome is the most common, accounting for about 20 percent of all miscarriages. (encyclopedia.com)
Pairs13
Abnormality3
  • The chromosome analysis determines whether there is a missing X chromosome or abnormality in any one of the X chromosomes. (medicinenet.com)
  • Turner Syndrome Turner syndrome is a sex chromosome abnormality in which girls are born with one of their two X chromosomes partially or completely missing. (merckmanuals.com)
  • As the name suggests, this abnormality arises in the chromosome number 21, and this is the most common abnormality of an extra chromosome. (firstcry.com)
Aneuploidy2
  • XXY aneuploidy, the most common human sex chromosome disorder, has a prevalence of 1 in 500 males. (medscape.com)
  • Organophosphorous pesticide exposure increases the frequency of sperm sex null aneuploidy. (cdc.gov)
Aneuploidies3
  • Other sex chromosomal aneuploidies are included in the KS group of chromosomal disorders. (medscape.com)
  • A fourth company, Natera, also in Redwood City, is preparing to unveil its test, Panorama, which uses a single nucleotide polymorphism (SNP)-based sequencing method to detect the same trisomies, with the addition of sex aneuploidies, which cause diseases such as Turners syndrome (X0). (the-scientist.com)
  • Sex chromosome aneuploidies David Skuse, Frida Printzlau and Jeanne Wolstencroft 25. (elsevier.com)
Occurs10
  • Absence of the X chromosome that occurs due to a defect in the father's sperm or in the mother's egg. (medicinenet.com)
  • DESCRIPTION (provided by applicant): Turner syndrome (TS) is the most common genetic problem effecting women, with an incidence of 1 in 1,500 to 2,000 live female births and occurs when an entire, or portions of an X-chromosome is deleted. (sbir.gov)
  • This is not an inherited genetic disorder but occurs due to some error during the gamete formation. (vedantu.com)
  • The defect occurs in the 47th chromosome so it is also called 47, triple X syndrome. (vedantu.com)
  • Severe neurological impairment also occurs and is usually associated with Hurler syndrome (mucopolysaccharidosis IH), Hunter syndrome (mucopolysaccharidosis II) , and Sanfilippo syndrome (mucopolysaccharidosis III). (medscape.com)
  • Turner syndrome (TS) is a genetic disorder that occurs in girls. (chkd.org)
  • Trisomy 18 syndrome (Edwards syndrome) is a disorder of human chromosomes which occurs in approximately 1 in 7,000 live born infants. (trisomy.org)
  • Trisomy 13 syndrome (Patau syndrome) is a disorder of human chromosomes which occurs in approximately 1 in 10,000-25,000 live-born infants. (trisomy.org)
  • Turner's syndrome occurs in approximately one out of every 2,500 live births. (encyclopedia.com)
  • The syndrome occurs in approximately one out of every 700 - 1000 newborns per year. (bvsalud.org)
Congenital4
  • Most often, doctors do not find a cause for growth hormone deficiency, but sometimes it is caused by a congenital disorder or brain tumor. (merckmanuals.com)
  • Although he did not meet diagnostic criteria for septooptic dysplasia, the findings may likely represent a congenital syndrome within the broad spectrum of septooptic dysplasia. (hindawi.com)
  • In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
  • Adetailedhistorywastakenand hadenlargedclitorisand1(7.1%)had cally.Althoughhormonal,genetic,mo- physicalexaminationandscreeningfor hypoplasticclitorisandvagina(Fraser lecularandradiographicinvestigations pituitaryhormones(thyroidstimulat- syndrome);6patientshadlabialfusion areneededtodeterminetheetiology, inghormone,adrenocorticotropichor- (42.9%)(Table1).Nogonadswere physicalexaminationremainsakeyfor mone(ACTH)andgonadotropins) palpableinanyofthem.Congenital diagnosis[ 2 ],particularlycarefulpalpa- were conducted. (who.int)
Hormones7
  • citation needed] It could also result from exposure, often in utero, to chemicals that disrupt the normal conversion of the allosomes into sex hormones and further into the development of either ambiguous outer genitalia or internal organs. (wikipedia.org)
  • The regulation of male sex hormones is complex, and disruption can affect fertility. (healthnews.com)
  • Any medication, tumor, disease, or disorder that impacts the glands that secrete sex hormones can alter male fertility. (healthnews.com)
  • Hypogonadism is the condition in which the production of sex hormones and germ cells (sperm and eggs) is inadequate. (encyclopedia.com)
  • Along with producing eggs and sperm, they produce sex hormones that generate all the differences between men and women. (encyclopedia.com)
  • The organs affected principally by sex hormones are the male and female genitals, both internal and external, and the female breasts. (encyclopedia.com)
  • This data will allow for population estimates of the selected steroid hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of diseases such as, Polycystic Ovary Syndrome (PCOS), androgen deficiency, cancer, and hormone imbalances in children. (cdc.gov)
Copy of chromosome 213
  • Down's syndrome arises when cells have an extra copy of chromosome 21. (oneofus.eu)
  • Down Syndrome is a genetic disorder caused by the presence of the third copy of chromosome 21 (total or partial). (bvsalud.org)
  • Down Syndrome (DS) is a genetic disorder caused by the presence of the third copy of chromosome 21 (total or partial). (bvsalud.org)
Genetic disorders4
  • Mucopolysaccharidosis III is considered the most common of these genetic disorders, occurring with an incidence of 1 in 70,000 newborns. (medscape.com)
  • For most genetic disorders, genetic counseling is advised. (health.am)
  • Flickr, abbybatchelder In the not-so-distant past, testing an unborn baby for Down syndrome and other severe genetic disorders required a procedure with a long, gruesome needle and an unnerving risk of miscarriage. (the-scientist.com)
  • There are a number of causes of hypogonadism, including stress, elevated prolactin levels, and several genetic disorders. (encyclopedia.com)
Pair of chromosomes2
Determines the sex2
  • It is thus the male's sperm that determines the sex of each offspring in such species. (wikipedia.org)
  • After a wave of impressive clinical trial data, the company launched MaterniT21 in October 2011, which tests for trisomy 21, trisomy 18 (Edward's syndrome), trisomy 13 (Patau syndrome), and determines the sex of the fetus. (the-scientist.com)
Gene27
  • After examination, it was discovered that the difference between a typical XX individual (traditional female) and a sex-reversed XX man was that the typical individuals lacked the SRY gene. (wikipedia.org)
  • Mutations in the FOXP3 gene cause IPEX syndrome. (medlineplus.gov)
  • The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. (medlineplus.gov)
  • In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. (medlineplus.gov)
  • 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. (newswise.com)
  • Nearly all cases of Rett syndrome are caused by a mutation in the methyl CpG binding protein 2, or MECP2 (pronounced meck-pea-two) gene. (nih.gov)
  • Because theMECP2 gene does not function properly in individuals with Rett syndrome, they may have too little MeCP2, or the MeCP2 they do have doesn't work properly. (nih.gov)
  • However, in some families of individuals affected by Rett syndrome, other family members have a mutation in the MECP2 gene. (nih.gov)
  • This is really the first sniff we've had of anything to do with gene therapy for Down's syndrome. (oneofus.eu)
  • Lawrence's team used "genome editing", a procedure that allows DNA to be cut and pasted, to drop a gene called XIST into the extra chromosome in cells taken from people with Down's syndrome. (oneofus.eu)
  • Once in place, the gene caused a buildup of a version of a molecule called RNA, which coated the extra chromosome and ultimately shut it down. (oneofus.eu)
  • The XIST gene sits on the X chromosome, but is only active in women. (oneofus.eu)
  • Lawrence's work shows that the gene can shut down other chromosomes too, a finding that paves the way for treating a range of other "trisomy" disorders, such as Edward syndrome and Patau syndrome , caused by extra copies of chromosomes 18 and 13 respectively. (oneofus.eu)
  • Since the autosomal chromosomes are paired, there are 2 copies of each gene. (health.am)
  • Disorders where genetics play an important role, so-called genetic diseases, can be classified as single gene defects, chromosomal disorders, or multifactorial. (health.am)
  • A single gene disorder (also called Mendelian disorder) is one that is determined by a single genetic locus and the specific allele on one or both members of a chromosome pair. (health.am)
  • But since there are about 6,000 known single gene disorders, their combined impact is significant. (health.am)
  • The incidence of serious single gene disorders is estimated to be about 1 in 200 births. (health.am)
  • Single-gene disorders are characterized by the pattern of transmission in families - this is called a pedigree. (health.am)
  • Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only very rarely (one in about 50 million). (news-medical.net)
  • Single gene disorders, the result of a single mutated gene. (docspot.com)
  • Chromosomal disorders, where gene-carrying chromosomes do not pair up correctly or are missing. (docspot.com)
  • Also, sometimes pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. (healthywomen.org)
  • Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. (healthywomen.org)
  • If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. (healthywomen.org)
  • Decreased SHBG concentrations are often seen with hypothyroidism, polycystic ovarian syndrome (PCOS), obesity, hirsutism, elevated androgen levels, alopecia, acromegaly and some polymorphisms on the SHBG gene. (cdc.gov)
  • Their cur- features including deep-set eyes, mi- linked to the TBCE gene on chromosome rent mean age is 5 years (range 11 crognathia, depressed nasal bridge, 1q42-43 which encodes for the tubulin- months-10 years). (who.int)
Turner's4
Patau2
  • Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy. (trisomy.org)
  • Apart from chromosome number 21, trisomy may also be observed in chromosome numbers 13 (Patau syndrome), 18 (Edwards syndrome), 8 (Warkany syndrome) and 9, each of which is marked by a characteristic set of symptoms - both physical and mental. (firstcry.com)
Deletions5
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
  • The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7. (hindawi.com)
  • Terminal deletions at the long arm of chromosome 7 have been described more frequently in the medical literature [ 1 , 2 ] compared to interstitial deletions at the distal 7q region. (hindawi.com)
  • A specific distal 7q interstitial deletion syndrome has not been proposed because of the rarity of these deletions and the various breakpoints described in prior studies. (hindawi.com)
  • The aim of this case report is to further understand the phenotypic features associated with interstitial deletions at the long arm of chromosome 7 and offer a basis for the development of a possible syndromic profile for these deletions in the future. (hindawi.com)
Organs6
  • Normal body tissues and organs are attacked, causing the multiple autoimmune disorders that develop in people with IPEX syndrome. (medlineplus.gov)
  • A type of neurocutaneous syndrome that can cause tumors to grow inside the brain, spinal cord, organs, skin, and skeletal bones. (hopkinsmedicine.org)
  • Some examples are Urea Cycle Disorder (where ammonia builds up in the body) and Gaucher's Disease (where fatty substances build up in cells and organs). (docspot.com)
  • If they produce too little sex hormone, then either the growth of the sexual organs or their function is impaired. (encyclopedia.com)
  • They also direct the adolescent maturation of sex organs into their adult form. (encyclopedia.com)
  • The testes (testicles) are two almond-shaped male sex organs contained in a sac called the scrotum, which sits directly behind the penis. (testocreams.com)
Copies of each chromosome1
  • In most cases, a baby is born with two copies of each chromosome: one copy is inherited from the mother, and the other from the father. (firstcry.com)
Genetics4
  • The SRY sequence's prominence in sex determination was discovered when the genetics of sex-reversed XX men (i.e. humans who possess biological male-traits but actually have XX allosomes) were studied. (wikipedia.org)
  • Genetics of autism spectrum disorder Daniel Geschwind22. (elsevier.com)
  • Bipolar disorder, a neuropsychiatric condition that includes manic and depressive episodes, affects about 1% of the population and is strongly influenced by genetics. (news-medical.net)
  • Biomechanical Genetics: This branch deals with metabolic disorders, such as galactosemia and phenylketonuria. (docspot.com)
Diseases4
  • Many medications, disorders, or diseases can have consequences on fertility. (healthnews.com)
  • Approximately 3 to 10 percent of the cell-free DNA in a mother's blood belongs to her baby, and these fetal blueprints are enough to determine if the baby has the wrong number of certain chromosomes-the cause of some inherited diseases, including Down syndrome. (the-scientist.com)
  • Cytogenetics: This specialty deals with chromosomes and their associated diseases, as well as testing their structure and number. (docspot.com)
  • Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. (healthywomen.org)
Girls with Turner syndrome4
  • In girls with Turner syndrome, one of the X chromosomes is missing, partially missing, or modified. (medicinenet.com)
  • Many of the health problems affecting girls with Turner syndrome can be managed or fixed with treatment. (chkd.org)
  • About half of all girls with Turner syndrome have a monosomy disorder. (chkd.org)
  • Girls with Turner syndrome have medical and developmental problems but can lead normal lives with proper medical care. (memorialcare.org)
Hereditary1
  • Osteochondrodysplasias Osteochondrodysplasias are a group of rare hereditary disorders of connective tissue, bone, or cartilage that cause the skeleton to develop abnormally. (merckmanuals.com)
Trisomy12
  • But the company stumbled into a messy scandal in 2009 over the first version of a sequence-specific test for fetal trisomy 21-the cause of Down syndrome. (the-scientist.com)
  • So, the theory is that if a pregnant woman has a fetus with, for example, trisomy 21, then the relative amount of chromosome 21 will be elevated. (the-scientist.com)
  • Trisomy ('three bodies') means the affected person has 47 chromosomes instead of 46. (trisomy.org)
  • Trisomy refers to three copies of a chromosome instead of the normal two and in trisomy 18 there is a presence of an extra #18 chromosome. (trisomy.org)
  • Trisomy refers to three copies of a chromosome instead of the normal two and in Trisomy 13 there is the presence of an extra #13 chromosome. (trisomy.org)
  • Mosaicism, partial trisomy, translocations and other related chromosomal disorders are variable phenotypes of a full trisomy. (trisomy.org)
  • Baby Born With Extra Chromosome or Trisomy - What Does It Mean? (firstcry.com)
  • And one such complication that a baby may have is an extra chromosome or trisomy. (firstcry.com)
  • Trisomy is most commonly observed in chromosome number 21, a condition known as Down syndrome. (firstcry.com)
  • Trisomy 21 or Down syndrome arises when a baby is born with a set of three 21 chromosomes. (firstcry.com)
  • Standard Trisomy 21: Every cell in the body has an extra copy of chromosome number 21. (firstcry.com)
  • Individuals with DS or trisomy 21 develop a clinical syndrome of dementia with clinical and neuropathologic characteristics almost identical to those of AD as described in individuals without DS. (medscape.com)
23rd pair1
Humans3
  • Many scientists argue that sex determination in plants is more complex than that in humans. (wikipedia.org)
  • For instance, in humans and many other species, sex chromosomes are referred to as X and Y. Typically, two X chromosomes result in a female while XY chromosomes result in males. (newswise.com)
  • A chromosome therapy for humans would be fraught with practical and ethical difficulties. (oneofus.eu)
Chromosomal disorder2
  • [ 3 ] It is also the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
  • Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally ab-normal second sex chromosome. (preprints.org)
Hypogonadism5
  • 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 hypogonadism may lead to changes in body composition and a risk of developing metabolic syndrome and type 2 diabetes. (mensfe.net)
  • Accordingly, clinical studies indicate that sexual dysfunctions, eventually present in KS, are not specifically associated with the syndrome but are related to the underlying hypogonadism. (mensfe.net)
  • 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)
Deletion12
  • VCFS is a genetic disorder associated with a deletion of chromosome #22q11. (vcfsef.org)
  • The deletion that causes VCFS is found on the q-arm of chromosome #22. (vcfsef.org)
  • When a person has the deletion in one of their #22 chromosomes, there is a 50% or 1/2 chance that they will pass on that chromosome to their offspring. (vcfsef.org)
  • Turner syndrome is caused by the deletion of part. (merckmanuals.com)
  • When only part of an X chromosome is missing (deletion), a girl with the syndrome will often have milder signs of TS. (chkd.org)
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
Occur5
  • Although IPEX syndrome can affect many different areas of the body, autoimmune disorders involving the intestines, skin, and hormone-producing (endocrine) glands occur most often. (medlineplus.gov)
  • Breast enlargement in men Breast disorders occur infrequently in men. (msdmanuals.com)
  • The missing sex chromosome error can occur in either the mother's egg cell or the father's sperm cell. (chkd.org)
  • Female is the default sex of the embryo, so most of the sex organ deficits at birth occur in boys. (encyclopedia.com)
  • It is the most common hormonal disorder among women of reproductive age, which can occur as young as 11 years old, and is the leading cause of infertility. (cdc.gov)
Turner-syndrome26
  • What Chromosome Is Turner Syndrome Found On? (medicinenet.com)
  • What are the signs and symptoms of Turner syndrome? (medicinenet.com)
  • The main symptom of Turner syndrome is short stature . (medicinenet.com)
  • How is Turner syndrome diagnosed? (medicinenet.com)
  • Prenatal screening tests are conducted to help assess the child's DNA in the mother's blood (prenatal cell-free DNA screening or noninvasive prenatal screening), which may help identify the risk of Turner syndrome. (medicinenet.com)
  • What is the treatment for Turner syndrome? (medicinenet.com)
  • There is no cure for Turner syndrome. (medicinenet.com)
  • Daniel MS. Turner Syndrome. (medicinenet.com)
  • Turner syndrome. (medicinenet.com)
  • What is Turner syndrome (TS) in children? (chkd.org)
  • Turner syndrome is rare. (chkd.org)
  • There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. (chkd.org)
  • Fetal ultrasound during pregnancy can also show the possibility of Turner syndrome. (chkd.org)
  • Turner Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ctsicn.org)
  • This graph shows the total number of publications written about "Turner Syndrome" by people in this website by year, and whether "Turner Syndrome" was a major or minor topic of these publications. (ctsicn.org)
  • Below are the most recent publications written about "Turner Syndrome" by people in Profiles. (ctsicn.org)
  • Soto-Quintana, M. The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome. (preprints.org)
  • A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. (preprints.org)
  • AIM: Patients with Turner syndrome have a high rate of developmental dyscalculia, but the underlying neurocognitive mechanisms are not well-understood. (bvsalud.org)
  • Some studies have implicated visuospatial impairments in patients with Turner syndrome, but others have focused on poor procedural skills in patients with Turner syndrome. (bvsalud.org)
  • We compared patients with Turner syndrome who had dyscalculia, patients with Turner syndrome who did not have dyscalculia, and the normal controls in terms of brain structures and resting-state functional activity. (bvsalud.org)
  • RESULTS: Compared with normal controls, both groups of patients with Turner syndrome (with or without dyscalculia) showed similarly altered functional connectivity in the occipitoparietal dorsal stream. (bvsalud.org)
  • Importantly, compared with patients with Turner syndrome without dyscalculia and normal controls, patients with Turner syndrome with dyscalculia showed decreased functional connectivity between the prefrontal and the lateral occipital cortex. (bvsalud.org)
  • CONCLUSION: We concluded that both groups of patients with Turner syndrome shared visual deficits, and patients with Turner syndrome with dyscalculia had a deficit in frontal cortex-based higher cognitive processing. (bvsalud.org)
  • It is not their visuospatial deficits but rather their deficits in higher cognitive processing that are responsible for the development of dyscalculia in patients with Turner syndrome. (bvsalud.org)
  • Craniofacial features of 18 individuals with Turner Syndrome (TS) were compared with age and gender matched healthy individuals. (bvsalud.org)
Autosomes1
  • These chromosomes also contain the genetic codes for the production of essential proteins, and the disproportion in chromosomes in XY individuals caused by them carrying only a single X for every pair of non-sex chromosomes (called autosomes) can lead to an imbalance in the production of proteins. (newswise.com)
Klinefelter's Syndrome3
  • Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function. (mensfe.net)
  • Klinefelter's syndrome (KS) is the most common sex chromosomal aberration among men, with estimated prevalence of about 1 in 500 newborn males. (mensfe.net)
  • Sexual dysfunction in subjects with Klinefelter's syndrome. (mensfe.net)
Temperature-dependent sex2
  • In some reptiles, e.g. sea turtles, only the incubation temperature determines sex (temperature-dependent sex determination). (wikipedia.org)
  • Valenzuela has studied temperature-dependent sex determination (TSD), or the way environmental temperatures influence whether a turtle embryo develops into a male or female in species that lack sex chromosomes, in previous research. (newswise.com)
Developmental5
  • To confirm a diagnosis of Rett syndrome, families should consult a pediatric neurologist, clinical geneticist, or developmental pediatrician. (nih.gov)
  • 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. (nih.gov)
  • 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)
  • Studies show that developmental language disorders run in families - a brother or sister of someone who has already been diagnosed will have an increased risk of developing the disorder themselves. (brookes.ac.uk)
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
Autism Spectrum5
  • 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)
  • Linking statewide health and education data is an effective way for states to have actionable local autism spectrum disorder (ASD) prevalence estimates when resources are limited. (cdc.gov)
  • Only 1 in 13 adolescents with Autism Spectrum Disorder (ASD) received the recommended guidance to move from pediatric to adult health care. (cdc.gov)
  • 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 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)
Somatic1
  • As the number of supernumerary X chromosomes increases, somatic and cognitive development are more likely to be affected. (medscape.com)
Down's9
  • The DNA of the embryo is then analyzed for novel or inherited genetic errors including Down's syndrome or cystic fibrosis and more. (science20.com)
  • Scientists have corrected the genetic fault that causes Down's syndrome - albeit in isolated cells - raising the prospect of a radical therapy for the disorder. (oneofus.eu)
  • A treatment based on the work remains a distant hope, but scientists in the field said the feat was the first major step towards a "chromosome therapy" for Down's syndrome. (oneofus.eu)
  • This will accelerate our understanding of the cellular defects in Down's syndrome and whether they can be treated with certain drugs," said Jeanne Lawrence , who led the team at the University of Massachusetts. (oneofus.eu)
  • The long-range possibility - and it's an uncertain possibility - is a chromosome therapy for Down's syndrome. (oneofus.eu)
  • The work is already helping scientists to tease apart how an extra chromosome 21 causes a raft of problems that strike people with Down's syndrome at various ages. (oneofus.eu)
  • By the time people with Down's syndrome are in their 60s, about 60% will succumb to dementia. (oneofus.eu)
  • The US team has already begun work that aims to prevent Down's syndrome in mice, by silencing the extra chromosome 21 in early-stage embryos. (oneofus.eu)
  • To prevent Down's syndrome, the genome editing would have to be performed on an embryo or foetus in the womb, and correct most, if not all, of the future child's cells. (oneofus.eu)
Prevalence1
  • Further studies are required to assess the prevalence of spontaneous abortions, birth defects, and genetic syndromes in agricultural communities. (cdc.gov)
Haploinsufficiency1
  • Taken together, these results suggest the involvement of both direct and indirect effects of X-chromosome haploinsufficiency on brain development in TS. (bvsalud.org)
Determination5
  • Diverse mechanisms are involved in the determination of sex in animals. (wikipedia.org)
  • For mammals, sex determination is carried by the genetic contribution of the spermatozoon. (wikipedia.org)
  • Fish and amphibians, for example, have genetic sex determination but their sex can also be influenced by externally available steroids and incubation temperature of eggs. (wikipedia.org)
  • The diversity of plants is reflected in their sex-determination systems, which include XY and UV systems as well as many variants. (wikipedia.org)
  • In mammals including human beings XY method of sex determination is followed. (vedantu.com)
Embryo2
  • Using Fluorsecent In Situ Hybridization, genetic screening can count chromosomes in a cell removed from an embryo in question. (science20.com)
  • But glitches in the early embryo can sometimes leave babies with too many chromosomes. (oneofus.eu)
Fertilizes an egg1
Common4
  • Plant sex chromosomes are most common in bryophytes, relatively common in vascular plants and unknown in ferns and lycophytes. (wikipedia.org)
  • Type 1 diabetes mellitus is an autoimmune condition involving the pancreas and is the most common endocrine disorder present in people with IPEX syndrome. (medlineplus.gov)
  • A connective tissue disorder (less common). (hopkinsmedicine.org)
  • KS is the most common sex chromosome disorder in males, affecting one in 660 men. (mensfe.net)
Organisms4
  • All diploid organisms with allosome-determined sex get half of their allosomes from each of their parents. (wikipedia.org)
  • Newswise - AMES, Iowa - A new study led by an Iowa State University scientist sheds light on how organisms have evolved to address imbalances in sex chromosomes. (newswise.com)
  • Many organisms determine their sex by a pair of specialized chromosomes that appear in virtually every cell of an organism's body. (newswise.com)
  • The study sheds light on how organisms have evolved to address such imbalances through a process called sex chromosome dosage compensation, or SCDC. (newswise.com)
Analyze3
  • After considering the symptoms, a blood test is done to analyze the child's chromosomes. (medicinenet.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. (newswise.com)
  • Therefore, the aim of the present study was to analyze the PC of children and adolescents with DS and to compare differences regarding age, sex, body mass index, and physical activity (PA) level. (bvsalud.org)
Human1
Proteins2
  • These chromosomes are made up of extremely long DNA molecules in combination with chromosomal proteins. (health.am)
  • Most of the circulating testosterone is bound to carrier proteins (sex hormone-binding globulin [SHBG], and albumin). (cdc.gov)
Autosomal dominant2
  • VCFS is an autosomal dominant disorder. (vcfsef.org)
  • Some disorders, such as Huntington disease, are autosomal dominant. (healthywomen.org)
Refers3
  • Refers to people whose gender identity aligns with their sex assigned at birth. (nlgja.org)
  • Abbreviation for down low , which refers to men who secretly have sex with men. (nlgja.org)
  • Sex" refers to the biological or physical characteristics of a person. (thetech.org)
Phenotypic1
  • Information was extracted Phenotypic features from the medical records and personal All the patients had severe failure to Sanjad Sakati syndrome or hypopar- interview. (who.int)
Neurodevelopmental2
  • Rett syndrome is a neurodevelopmental disorder. (nih.gov)
  • Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. (elsevier.com)
Sperm cells1
Hormone replace1
  • Sex hormone replacement therapy may help the affected person attain physical development related to adolescence. (medicinenet.com)
Adolescent1
  • The aim of this study was to report the dental care given to an adolescent with pentasomy of the X chromosome. (bvsalud.org)
Extra15
  • A genetic condition in men in which an extra X sex chromosome is present. (hopkinsmedicine.org)
  • Most boys inherit the extra X chromosome from their mother. (msdmanuals.com)
  • In an elegant series of experiments, US researchers took cells from people with DS and silenced the extra chromosome that causes the condition. (oneofus.eu)
  • Writing in the journal Nature , the team describes how cells corrected for an extra chromosome 21 grew better, and developed more swiftly into early-stage brain cells. (oneofus.eu)
  • One question is, if we could turn off the extra chromosome in adults, would that stop or ameliorate their dementia? (oneofus.eu)
  • Another approach would cut the risk of leukaemia by silencing the extra chromosome in bone marrow cells. (oneofus.eu)
  • Extra or missing pieces of chromosomes can have a significant impact on the health of an individual. (healthywomen.org)
  • In the USA, 1 in 500 to 1,000 males has an extra sex chromosome. (testocreams.com)
  • What Does It Mean If a Baby is Born With an Extra Chromosome? (firstcry.com)
  • However, if it does not happen, then the baby may be born with an extra chromosome. (firstcry.com)
  • However, if meiosis goes wrong, it can result in an egg or sperm with an extra chromosome, a missing chromosome, or extra pieces of some chromosomes. (firstcry.com)
  • If your baby has an extra chromosome, then in most cases it may lead to a miscarriage (even before your baby develops fully) or a stillbirth. (firstcry.com)
  • This happens as a result of faulty meiosis (i.e., either the egg of the sperm has an extra chromosome). (firstcry.com)
  • Mosaic Down Syndrome: Only some cells in the body have an extra chromosome number 21. (firstcry.com)
  • The genetic background is the extra X-chromosome, which may be inherited from either parent. (mensfe.net)
Short stature1
  • In childhood, features of this disorder include short stature, small genitals and an excessive appetite. (rarediseases.org)
Child's1
  • Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development and conducting ongoing evaluations of the child's physical and neurological status. (nih.gov)