Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and independent living abilities. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
genetics disease chromosome related patho anatomyMirzaNaadir
Mosaicism is a genetic condition where cells within the same person have a different genetic makeup. It can affect any type of cell, including blood, egg, sperm and skin cells. Mosaicism is caused by an error in cell division early in fetal development, resulting in some cells having a normal chromosome pattern and others having an abnormal pattern. Examples include mosaic Down syndrome, Klinefelter syndrome, and Turner syndrome.
Trisomy 8, Turners syndrome, Triple X: A Case ReportDominick Maino
This case report describes a 13-year-old female patient with three rare genetic conditions: Trisomy 8, Turner Syndrome, and Triple X Syndrome. She presented with refractive errors, oculomotor dysfunction, and impaired vision information processing. After 27 optometric vision therapy sessions targeting these issues, her visual skills improved to age-appropriate levels. This is the first reported case of a patient with all three syndromes, demonstrating that vision therapy can effectively treat visual problems in individuals with genetic anomalies.
This document provides information about three genetic disorders: Turner's syndrome, Down's syndrome, and Klinefelter's syndrome. It discusses what each disorder is, its causes and prevalence, methods of diagnosis, and potential treatments. Turner's syndrome affects females and is caused by missing an X chromosome. Down's syndrome results from a third copy of chromosome 21 and causes cognitive impairment. Klinefelter's syndrome occurs in males due to an extra X chromosome.
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
When we talk about genetic disease, the first thing that come in our mind is "Down Syndrome".
Down syndrome: is a genetic disease that comes from a meiotic
nondisjunction in the DNA of the divided cell, so cause a three
chromosomes in the Number (21).
Down syndrome is continuous with the life of person, and the patient
needs a special care from his society, family, and even his country.
In this report, I will discuss everything about "Down Syndrome",
causes, symptoms, diagnosis and even treatment. I will also mention some samples of people with Down syndrome who did interesting things in our world.
The maternal age is one of the most common cause of Down
Syndrome, sometimes the radiation causes this syndrome or increase its risk.
No treatment is known for Down Syndrome, but they can be rehabilitated for life. Finally, I hope you enjoy and take benefit from this report, and know everything about this common disease which is very difficult to get along with normal people
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and independent living abilities. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
genetics disease chromosome related patho anatomyMirzaNaadir
Mosaicism is a genetic condition where cells within the same person have a different genetic makeup. It can affect any type of cell, including blood, egg, sperm and skin cells. Mosaicism is caused by an error in cell division early in fetal development, resulting in some cells having a normal chromosome pattern and others having an abnormal pattern. Examples include mosaic Down syndrome, Klinefelter syndrome, and Turner syndrome.
Trisomy 8, Turners syndrome, Triple X: A Case ReportDominick Maino
This case report describes a 13-year-old female patient with three rare genetic conditions: Trisomy 8, Turner Syndrome, and Triple X Syndrome. She presented with refractive errors, oculomotor dysfunction, and impaired vision information processing. After 27 optometric vision therapy sessions targeting these issues, her visual skills improved to age-appropriate levels. This is the first reported case of a patient with all three syndromes, demonstrating that vision therapy can effectively treat visual problems in individuals with genetic anomalies.
This document provides information about three genetic disorders: Turner's syndrome, Down's syndrome, and Klinefelter's syndrome. It discusses what each disorder is, its causes and prevalence, methods of diagnosis, and potential treatments. Turner's syndrome affects females and is caused by missing an X chromosome. Down's syndrome results from a third copy of chromosome 21 and causes cognitive impairment. Klinefelter's syndrome occurs in males due to an extra X chromosome.
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Fragile X syndrome is caused by a mutation on the X chromosome that results in failure to produce the fragile X mental retardation protein. It is characterized by a range of developmental problems including cognitive impairment and learning disabilities. Males tend to be more severely affected than females. The condition was first linked to the X chromosome in 1943 and the genetic basis involving expansion of the CGG trinucleotide repeat was discovered in the FMR1 gene in 1991. It is the most common known cause of inherited intellectual disability and a significant cause of autism.
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
This document summarizes several genetic disorders: Down's syndrome is characterized by an extra copy of chromosome 18 and features like upward slanting eyes. Edward's syndrome involves a missing part of chromosome 5 and a cat-like cry. Lejeune's syndrome only affects females who lack an X chromosome and have facial abnormalities and infertility. Turner's syndrome is caused by missing genetic material on the X chromosome and causes short stature. Williams-Beuren syndrome is due to a microdeletion on chromosome 7 and causes facial features and cardiovascular issues. Klinefelter's syndrome occurs only in males with two or more X chromosomes and causes infertility and gynecomastia. Tay-Sachs disease is a recessive disorder caused
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
The two brothers presented with moderate to severe developmental delays and were referred to the hospital for evaluation. They exhibited features such as long square faces, prominent ears, hyperactivity, poor attention spans, and mental retardation. Their mother's aunt also displayed mental retardation. A diagnosis of fragile X syndrome was suggested due to the familial inheritance pattern and common features presented. Fragile X syndrome is caused by a mutation in the fragile X mental retardation 1 (FMR1) gene, specifically the expansion of the CGG repeat sequence in this gene beyond normal limits. Prenatal diagnosis can be done via analysis of DNA from fetal tissue samples to detect the CGG repeat expansion.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of cases due to a cell division error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives by improving motor skills, addressing medical issues, and providing educational support.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a chromosomal error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives and address medical issues as well as improve motor skills through therapies. The risk of having a child with Down syndrome increases with the age of the mother.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of cases due to a cell division error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives by improving motor skills, addressing medical issues, and providing educational support.
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and learning. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome involving expansion of the CGG repeat region in the FMR1 gene. This results in reduced or absent FMRP protein which is important for neural development. Symptoms can include intellectual disabilities, autism-like behaviors, large testes in males, and physical features like prominent ears and flat feet. It is typically diagnosed through genetic testing. While there is no cure, early intervention including therapies can help maximize learning and development.
Cerebral palsy is a group of disorders that affects movement and posture and is caused by injury to the developing brain. It causes muscle tightness and involuntary movements that can range from mild to severe. Common signs in infants include problems with sucking, swallowing, and unusual positions of the body. While there is no cure for cerebral palsy, treatments like physical therapy, medication, and surgery can help improve symptoms and quality of life. The most common types of cerebral palsy are spastic, which causes muscle tightness, and athetoid, which causes involuntary movements.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It causes delays in physical and intellectual development and is the most common chromosome abnormality in humans, affecting approximately 1 in 800 live births. The signs and symptoms include cognitive impairment and characteristic facial features. While individuals with Down syndrome may have health issues, proper care and education can significantly improve quality of life.
Fragile X syndrome is caused by a mutation on the FMR1 gene that prevents production of the FMRP protein. Males are more commonly affected and exhibit characteristics like prominent ears, long face, delayed speech, enlarged testes, and autism-like behaviors. Females may show fewer symptoms, with about half having normal intelligence. While there is no single cure, early intervention through education, therapy and medication can help those with Fragile X develop their skills and capabilities.
Fragile X syndrome is caused by the expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is the most common inherited cause of intellectual disability and can also cause autism spectrum disorder. While there is no cure, treatment focuses on behavioral therapy and special education.
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples discussed include trisomies like Down syndrome, monosomies like Turner syndrome, and deletions or duplications of chromosome segments. Structural aberrations alter chromosome structure and include translocations, inversions, and deletions. Specific disorders result from defects in certain chromosomes.
Fragile X syndrome is caused by a mutation on the X chromosome that results in failure to produce the fragile X mental retardation protein. It is characterized by a range of developmental problems including cognitive impairment and learning disabilities. Males tend to be more severely affected than females. The condition was first linked to the X chromosome in 1943 and the genetic basis involving expansion of the CGG trinucleotide repeat was discovered in the FMR1 gene in 1991. It is the most common known cause of inherited intellectual disability and a significant cause of autism.
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
This document summarizes Fragile X syndrome. It is caused by a mutation on the FMR1 gene on the X chromosome, which normally produces a protein involved in brain development and function. Fragile X syndrome is characterized by intellectual disabilities and certain physical traits. While there is no cure, treatment aims to manage symptoms through educational and therapeutic interventions, as well as medication in some cases.
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
This document summarizes several genetic disorders: Down's syndrome is characterized by an extra copy of chromosome 18 and features like upward slanting eyes. Edward's syndrome involves a missing part of chromosome 5 and a cat-like cry. Lejeune's syndrome only affects females who lack an X chromosome and have facial abnormalities and infertility. Turner's syndrome is caused by missing genetic material on the X chromosome and causes short stature. Williams-Beuren syndrome is due to a microdeletion on chromosome 7 and causes facial features and cardiovascular issues. Klinefelter's syndrome occurs only in males with two or more X chromosomes and causes infertility and gynecomastia. Tay-Sachs disease is a recessive disorder caused
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from working properly. This prevents the production of a protein needed for normal brain development, leading to intellectual disabilities and learning issues. Boys typically show more severe symptoms than girls. While there is no cure, early intervention and treatments can help maximize each child's potential. Affected individuals often require support their whole lives, and fragile X syndrome places a significant burden on families and society.
The two brothers presented with moderate to severe developmental delays and were referred to the hospital for evaluation. They exhibited features such as long square faces, prominent ears, hyperactivity, poor attention spans, and mental retardation. Their mother's aunt also displayed mental retardation. A diagnosis of fragile X syndrome was suggested due to the familial inheritance pattern and common features presented. Fragile X syndrome is caused by a mutation in the fragile X mental retardation 1 (FMR1) gene, specifically the expansion of the CGG repeat sequence in this gene beyond normal limits. Prenatal diagnosis can be done via analysis of DNA from fetal tissue samples to detect the CGG repeat expansion.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of cases due to a cell division error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives by improving motor skills, addressing medical issues, and providing educational support.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a chromosomal error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives and address medical issues as well as improve motor skills through therapies. The risk of having a child with Down syndrome increases with the age of the mother.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of cases due to a cell division error called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21. While Down syndrome cannot be cured, treatments can help those with the condition live productive lives by improving motor skills, addressing medical issues, and providing educational support.
XYY syndrome is a genetic condition where males have 47 chromosomes due to an extra Y chromosome. It occurs in about 1 in 1,000 male births. The extra Y chromosome results from a nondisjunction event in parental gamete formation or shortly after conception. Individuals with XYY syndrome are typically taller than average and may experience learning disabilities or behavioral issues. While early studies linked XYY syndrome to increased aggression, later research found no definitive behavioral phenotype and intelligence is usually in the normal range.
Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This results in some degree of intellectual impairment and physical abnormalities. The most common form, trisomy 21, occurs in 95% of Down syndrome cases and is due to a failure of chromosomes to separate properly during cell division leading to 47 chromosomes instead of the typical 46. Down syndrome symptoms can range from mild to moderate and include distinctive facial features, lower muscle tone, and slower development of skills like walking, talking, and learning. While Down syndrome cannot be cured, treatments like therapies can help improve motor skills and medical issues are often manageable.
Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome involving expansion of the CGG repeat region in the FMR1 gene. This results in reduced or absent FMRP protein which is important for neural development. Symptoms can include intellectual disabilities, autism-like behaviors, large testes in males, and physical features like prominent ears and flat feet. It is typically diagnosed through genetic testing. While there is no cure, early intervention including therapies can help maximize learning and development.
Cerebral palsy is a group of disorders that affects movement and posture and is caused by injury to the developing brain. It causes muscle tightness and involuntary movements that can range from mild to severe. Common signs in infants include problems with sucking, swallowing, and unusual positions of the body. While there is no cure for cerebral palsy, treatments like physical therapy, medication, and surgery can help improve symptoms and quality of life. The most common types of cerebral palsy are spastic, which causes muscle tightness, and athetoid, which causes involuntary movements.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It causes delays in physical and intellectual development and is the most common chromosome abnormality in humans, affecting approximately 1 in 800 live births. The signs and symptoms include cognitive impairment and characteristic facial features. While individuals with Down syndrome may have health issues, proper care and education can significantly improve quality of life.
Fragile X syndrome is caused by a mutation on the FMR1 gene that prevents production of the FMRP protein. Males are more commonly affected and exhibit characteristics like prominent ears, long face, delayed speech, enlarged testes, and autism-like behaviors. Females may show fewer symptoms, with about half having normal intelligence. While there is no single cure, early intervention through education, therapy and medication can help those with Fragile X develop their skills and capabilities.
Fragile X syndrome is caused by the expansion of the CGG trinucleotide repeat on the X chromosome, which results in failure to express the FMR1 protein needed for normal neural development. It is the most common inherited cause of intellectual disability and can also cause autism spectrum disorder. While there is no cure, treatment focuses on behavioral therapy and special education.
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples discussed include trisomies like Down syndrome, monosomies like Turner syndrome, and deletions or duplications of chromosome segments. Structural aberrations alter chromosome structure and include translocations, inversions, and deletions. Specific disorders result from defects in certain chromosomes.
Human Chromosomes and Chromosome BehaviorKnel Luistro
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features of their centromere and arm length ratios. Chromosomal abnormalities can cause genetic disorders and are identified through karyotyping. Examples of abnormalities discussed include trisomies, where an additional chromosome is present, and structural aberrations involving deletions, duplications, inversions or translocations of chromosomal segments. Specific disorders arise from defects in sex chromosomes like Klinefelter syndrome or autosomal chromosomes such as Down syndrome, Edward syndrome, and Patau syndrome.
HUMAN CHROMOSOME AND CHROMOSOME BEHAVIORShee Alabs
A chromosome is a long DNA molecule that carries genetic information within cells. Chromosomes are categorized based on features like centromere placement and arm length ratios. Karyotyping involves analyzing an individual's chromosomes to identify any abnormalities in number or structure that may cause health issues. Several chromosomal disorders exist due to extra, missing, or rearranged chromosomes, including Klinefelter syndrome, Turner syndrome, Down syndrome, and Angelman syndrome. These disorders are characterized by distinct physical and cognitive traits.
Resli W. - Living with Turner SyndromeGillian Lord
Turner syndrome is a genetic condition that affects girls where one of the two X chromosomes is missing or partially missing. It occurs in around 1 in 2,500 live female births. Girls with Turner syndrome are shorter in height and may experience a variety of health issues such as heart problems, kidney problems, low set ears, skin moles, and celiac disease. However, with growth hormone treatment and medical care, girls can live healthy lives and are otherwise similar to their peers.
Chromosomes determine an organism's hereditary traits and are composed of DNA and proteins located within cells. They can be described based on features of their centromere placement and arm length ratios. Karyotyping involves analyzing an individual's full set of chromosomes to identify any abnormalities in number or structure that may be associated with developmental or medical conditions. Several chromosomal disorders result from mutations involving the sex chromosomes or autosomes, leading to characteristic physical and developmental phenotypes.
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by physical abnormalities like a flat face and short neck, as well as cognitive delays. The most common form is trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Diagnosis is usually made prenatally through tests like amniocentesis or chorionic villus sampling. Treatment focuses on supporting development and managing any associated medical conditions through a team approach involving various therapists and doctors.
This document discusses several genetic disorders and chromosomal abnormalities. It defines genetic disorders as health problems associated with abnormalities in DNA at birth or after. It notes polygenic disorders are most common and can occur spontaneously or through inheritance. Congenital disorders are abnormalities present at birth that cause disabilities and can range from mild to severe. Specific chromosomal abnormalities discussed include Down syndrome, Trisomy 18, Trisomy 13, Klinefelter syndrome, and Turner syndrome. Each is defined by its genetic cause and associated physical and developmental symptoms.
TURNER SYNDROM and causes any type sign symptomswajidullah9551
Turner Syndrome is a genetic condition that affects females and is caused by the complete or partial absence of one of the two X chromosomes. It occurs in around 1 in 2,500 live female births. Common symptoms include short stature, infertility, heart problems, and learning disabilities. Diagnosis is usually made through prenatal testing, a blood test, or clinical examination. While there is no cure, treatment focuses on managing symptoms through growth hormone therapy and hormone replacement.
X-linked recessive traits are inherited in a pattern where females can be carriers but typically do not exhibit symptoms, while males with a single copy of the recessive gene will exhibit the trait. Examples of X-linked recessive conditions discussed in the document include red-green color blindness and hemophilia A. Color blindness affects approximately 1 in 12 men and results in the inability to distinguish between certain colors, while hemophilia A is a bleeding disorder caused by a lack of clotting factor VIII. Other genetic conditions discussed include Down syndrome, Turner syndrome, and Klinefelter syndrome.
Down's syndrome is a chromosomal disorder caused by the presence of an extra 21st chromosome. It is named after John Langdon Down, who first described the syndrome in 1866. Individuals with Down's syndrome have characteristics like a flat face, small eyes, intellectual disabilities, and higher risks for certain health conditions. The disorder is caused by the non-disjunction of chromosome 21 during oogenesis, resulting in a trisomy or three copies of chromosome 21 rather than the normal two copies.
The document provides information on various types of genetic disorders caused by chromosomal anomalies. It begins with definitions of key terms like aneuploidy, trisomy, monosomy, and discusses numerical and structural chromosomal anomalies. It then describes specific disorders in more detail, including Down syndrome, Edward syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, Fragile X syndrome, Cri-Du-Chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen syndrome, and Prader-Willi syndrome. It also discusses uniparental disomy and related disorders. In summary, the document defines genetic terminology and provides an overview of several important chromosomal anomalies and their associated genetic disorders
Turner syndrome is a chromosomal condition that affects development in girls. It results from missing or partial X chromosome, so girls with Turner syndrome have only one X chromosome instead of the typical two. Signs and symptoms include short stature, low-set ears, extra folds of skin on the neck, and irregular or absent menstrual periods. Health issues associated with Turner syndrome include heart defects, kidney problems, diabetes, and hearing loss. Diagnosis is made through a chromosomal test called a karyotype that shows the missing or partial chromosome. Treatment focuses on hormone therapy, cardiac surgery if needed, and reproductive technologies to help with pregnancy.
Turner syndrome is a genetic condition where females are missing an entire or partial X chromosome. It affects about 1 in 2,500 baby girls. Common characteristics include short stature and lack of ovarian development leading to infertility. While it cannot be passed down from parent to child, it is typically caused during egg formation when chromosomes fail to separate properly. Diagnosis involves a karyotype blood test and treatment focuses on hormone replacement therapy to promote normal development and replace missing hormones.
Turner syndrome is a genetic condition where females are missing an X chromosome. It affects about 1 in 2,500 baby girls. Common characteristics include short stature and lack of ovarian development leading to infertility. While it cannot be passed down from parent to child, it is typically caused by a failure of chromosomes to separate during egg formation. Diagnosis is often made based on physical characteristics, and can be confirmed with a blood test. Hormone replacement therapy is the primary treatment.
Turner syndrome is a genetic condition that affects development in females caused by a full or partial missing X chromosome. It occurs in about 1 in 2,500 baby girls. Common characteristics include short stature and lack of ovarian development leading to infertility. Treatment involves hormone replacement therapy including growth hormone, androgens, and estrogen to promote normal development and replace missing hormones.
Chromosomal Disorders. The types of chromosomal disorders: structural, deletion or addition. Down's syndrome, Turner's syndrome, Klinefelter's syndrome, Patau syndrome. Hope this presentation will help you.
This document discusses various inherited and genetic disorders. It defines inherited disorders as diseases caused by abnormalities in DNA, including small mutations or changes in chromosome number. The document then covers several specific disorders:
- Allosomal disorders, related to sex chromosomes like Kleinfelter's syndrome (XXY) and Turner's syndrome (monosomy X).
- Autosomal disorders including Down syndrome (trisomy 21), hemophilia (X-linked bleeding disorder), and sickle cell anemia (mutation in hemoglobin gene).
- Other examples provided are color blindness (X-linked), albinism (tyrosinase enzyme defect), and hairy ears (rare Y-linked trait).
Need for Early Identification of hering loss.pptxAmbuj Kushawaha
Hearing loss presents as a silent, covert challenge in children. Particularly in infants and toddlers, who cannot articulate their hearing difficulties, it remains veiled. Left undetected and untreated, this condition can result in delayed speech and language development, as well as social, emotional, and academic challenges, thus qualifying as a handicap. Early detection of hearing loss, even in newborns, enables effective intervention, substantially mitigating its impact. However, since many parents are unaware that accurate hearing tests are feasible for all children, including newborns, identification of hearing loss in children often faces delays.
Overview of Behavioural and Objective Techniques in Screening.pptxAmbuj Kushawaha
Hearing loss, being an invisible disability, can remain unnoticed, particularly since typically developing children might not start speaking until around the age of two. Consequently, if hearing loss isn't identified through newborn hearing screening initiatives, it frequently remains undetected beyond 18 months of age, especially among children without any medical conditions or additional disabilities.
Team Member involved in hearing Screening.pptxAmbuj Kushawaha
Hearing impairment presents itself as a concealed challenge. Its hidden nature stems from the inability of children to self-diagnose their hearing abilities. Similarly, some adults opt to hide their hearing difficulties from others. Detecting and addressing hearing loss early on is paramount, mainly to prevent infants and young children from missing out on crucial developmental stages, typically from birth to five years of age. This critical age period encompasses comprehensive developmental milestones, including physical, motor, speech and language, and social and psychological advancements. Recognising the significance of this crucial period and leveraging it to its fullest potential is essential for facilitating optimal development in children. Early identification of hearing loss, even in newborns, facilitates effective intervention and rehabilitation. The rehabilitation team ought to be comprised of members who collaborate closely to ensure successful intervention for individuals with hearing impairment.
UNCRPD, UNICEF, SDG goals, Histroy and IntroducationAmbuj Kushawaha
UNICEF was founded in 1946 and works to provide humanitarian and developmental aid to children worldwide. Its mission is to ensure children's basic needs for nutrition, health, and education are met and that children have opportunities to reach their full potential. UNICEF focuses on areas like child protection, education, health, and social policy. It provides emergency aid and supports innovation, logistics, and research to advance children's rights globally.
National University of Education Planning and Administration AK ppt.pptxAmbuj Kushawaha
The National Institute of Educational Planning and Administration (NIEPA), (Deemed to be University) established by the erstwhile Ministry of Human Resource Development(now Ministry of Education), Government of India, is a premier organization dealing with capacity building and research in planning and management of education not only in India but also in South Asia.
The MDGs were revolutionary in providing a common language to reach global agreement. The 8 goals were realistic and easy to communicate, with a clear measurement/monitoring mechanism.
Substantial progress has been made regarding the MDGs. The world has already realized the first MDG of halving the extreme poverty rate by 2015. However, the achievements have been uneven.
In the interest of creating a new, people-centered, development agenda, a global consultation was conducted online and offline. Civil society organizations, citizens, scientists, academics, and the private sector from around the world were all actively engaged in the process. Activities included thematic and national consultations, and the My World survey led by the United Nations Development Group.
The document discusses key aspects of the Rights of Persons with Disabilities Act (RPwD) 2016 in India such as definitions of disability, government programs, census data on disability prevalence. It outlines 21 types of specified disabilities recognized in the act such as blindness, locomotor impairment, intellectual disabilities. Details are provided on the classification of disabilities into physical, intellectual, and mental illnesses. Common conditions like cerebral palsy, muscular dystrophy, and blood disorders are also explained in brief.
Visual impairments can range from total blindness to minor vision problems. The document defines blindness as visual acuity not exceeding 6/60 or a visual field of 20 degrees or worse. Low vision is defined as visual acuity between 6/18 and light perception or a visual field between 10 to 40 degrees. Common types of visual impairments include refractive errors like myopia, hyperopia, astigmatism and color blindness. Other causes are retinal conditions, glaucoma, cataracts and diabetic retinopathy.
The document discusses hearing impairment and its classification. It covers different types of hearing loss including conductive, sensorineural, and mixed hearing loss. It also discusses the causes, age of onset, degree, and nature of hearing loss. The document provides details on how sound travels through the ear and the parts involved. It presents a table that classifies hearing loss based on decibel levels from normal to profound hearing loss.
Transition Planning for Independent Living of Learners with Deafblindness in ...Ambuj Kushawaha
This document summarizes a research study about transition planning for independent living of learners with deafblindness in India. The study aims to review activities undertaken during transition by special educators in schools to help students with deafblindness develop independent living skills. Data will be collected through a survey of 30 special educators using a rating scale to understand the types of daily living and independent living activities taught and students' performance levels. The results will provide insight into transition planning and support for helping students with deafblindness attain independence.
Curricular strategies in enhancing language in varying philosophies [Autosave...Ambuj Kushawaha
This document discusses different philosophies and methods for teaching language to deaf children. It covers three main philosophies: bilingual, total communication, and oral. It also describes structural, natural, and combined methods. The structural method emphasizes direct instruction of grammar rules through drills. The natural method believes language is acquired through exposure rather than teaching. The combined method uses elements of both, such as creating situations for children to discover rules on their own with teacher guidance. The document provides examples of specific programs that take different approaches to language development for deaf children.
This course focuses on human growth and development over the lifespan, as well as careers that help people deal with various physical, intellectual, and socioemotional issues, such as physicians, nurses, nutritionists, substance abuse counselors, clergy, teachers, career counselors, psychologists, and psychiatrists.
Kindergarten is a classroom program for children ages 3 to 7, originating from the German word meaning "garden for children." The first kindergarten was developed in Germany in 1837 by Friedrich Froebel, who viewed children as seeds that need a nurturing environment to grow. He designed kindergarten to teach young children through creative play, social interaction, and natural self-expression. Kindergarten aims to help children transition from home to school by preparing them academically and developing their social and motor skills through activities like games, drawing, and singing. The benefits of kindergarten education include supporting brain development, learning social skills, and establishing independence at a key stage of child development.
Definition menaning and scope of communication and Language Ambuj Kushawaha
Definition,Meaning, and Scope of communication.
Human and Animal Communication
Human Communicaton (Lingustic and Non-Lingustic)
Definition, Meaning, and Scope of Language
Structure, Characteristics, and Funcation of Language
Innateness of Languge
(Hind and English)
Establistment of Various National Institute and Development of Teacher Education in Special Education under Ministry of Social Justice and Empowerment.
The document discusses the need, scope, and status of vocational education in India. It notes that vocational education prepares students for skilled jobs through hands-on training in fields like healthcare, IT, and trades. It is needed to meet the demand for skilled workers, reduce unemployment, and help economic growth. Vocational education offers wide-ranging career options but makes up only a small percentage of the Indian education system. While India has expanded vocational programs, a gap remains between the supply and demand of skilled labor.
TEST BANK FOR Health Assessment in Nursing 7th Edition by Weber Chapters 1 - ...rightmanforbloodline
TEST BANK FOR Health Assessment in Nursing 7th Edition by Weber Chapters 1 - 34.
TEST BANK FOR Health Assessment in Nursing 7th Edition by Weber Chapters 1 - 34.
TEST BANK FOR Health Assessment in Nursing 7th Edition by Weber Chapters 1 - 34.
TEST BANK For Accounting Information Systems, 3rd Edition by Vernon Richardso...rightmanforbloodline
TEST BANK For Accounting Information Systems, 3rd Edition by Vernon Richardson, Verified Chapters 1 - 18, Complete Newest Version
TEST BANK For Accounting Information Systems, 3rd Edition by Vernon Richardson, Verified Chapters 1 - 18, Complete Newest Version
TEST BANK For Accounting Information Systems, 3rd Edition by Vernon Richardson, Verified Chapters 1 - 18, Complete Newest Version
Can coffee help me lose weight? Yes, 25,422 users in the USA use it for that ...nirahealhty
The South Beach Coffee Java Diet is a variation of the popular South Beach Diet, which was developed by cardiologist Dr. Arthur Agatston. The original South Beach Diet focuses on consuming lean proteins, healthy fats, and low-glycemic index carbohydrates. The South Beach Coffee Java Diet adds the element of coffee, specifically caffeine, to enhance weight loss and improve energy levels.
Healthy Eating Habits:
Understanding Nutrition Labels: Teaches how to read and interpret food labels, focusing on serving sizes, calorie intake, and nutrients to limit or include.
Tips for Healthy Eating: Offers practical advice such as incorporating a variety of foods, practicing moderation, staying hydrated, and eating mindfully.
Benefits of Regular Exercise:
Physical Benefits: Discusses how exercise aids in weight management, muscle and bone health, cardiovascular health, and flexibility.
Mental Benefits: Explains the psychological advantages, including stress reduction, improved mood, and better sleep.
Tips for Staying Active:
Encourages consistency, variety in exercises, setting realistic goals, and finding enjoyable activities to maintain motivation.
Maintaining a Balanced Lifestyle:
Integrating Nutrition and Exercise: Suggests meal planning and incorporating physical activity into daily routines.
Monitoring Progress: Recommends tracking food intake and exercise, regular health check-ups, and provides tips for achieving balance, such as getting sufficient sleep, managing stress, and staying socially active.
Can Allopathy and Homeopathy Be Used Together in India.pdfDharma Homoeopathy
This article explores the potential for combining allopathy and homeopathy in India, examining the benefits, challenges, and the emerging field of integrative medicine.
International Cancer Survivors Day is celebrated during June, placing the spotlight not only on cancer survivors, but also their caregivers.
CANSA has compiled a list of tips and guidelines of support:
https://cansa.org.za/who-cares-for-cancer-patients-caregivers/
Chandrima Spa Ajman is one of the leading Massage Center in Ajman, which is open 24 hours exclusively for men. Being one of the most affordable Spa in Ajman, we offer Body to Body massage, Kerala Massage, Malayali Massage, Indian Massage, Pakistani Massage Russian massage, Thai massage, Swedish massage, Hot Stone Massage, Deep Tissue Massage, and many more. Indulge in the ultimate massage experience and book your appointment today. We are confident that you will leave our Massage spa feeling refreshed, rejuvenated, and ready to take on the world.
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This particular slides consist of- what is hypotension,what are it's causes and it's effect on body, risk factors, symptoms,complications, diagnosis and role of physiotherapy in it.
This slide is very helpful for physiotherapy students and also for other medical and healthcare students.
Here is the summary of hypotension:
Hypotension, or low blood pressure, is when the pressure of blood circulating in the body is lower than normal or expected. It's only a problem if it negatively impacts the body and causes symptoms. Normal blood pressure is usually between 90/60 mmHg and 120/80 mmHg, but pressures below 90/60 are generally considered hypotensive.
Letter to MREC - application to conduct studyAzreen Aj
Application to conduct study on research title 'Awareness and knowledge of oral cancer and precancer among dental outpatient in Klinik Pergigian Merlimau, Melaka'
Unlocking the Secrets to Safe Patient Handling.pdfLift Ability
Furthermore, the time constraints and workload in healthcare settings can make it challenging for caregivers to prioritise safe patient handling Australia practices, leading to shortcuts and increased risks.
Hypertension and it's role of physiotherapy in it.Vishal kr Thakur
This particular slides consist of- what is hypertension,what are it's causes and it's effect on body, risk factors, symptoms,complications, diagnosis and role of physiotherapy in it.
This slide is very helpful for physiotherapy students and also for other medical and healthcare students.
Here is summary of hypertension -
Hypertension, also known as high blood pressure, is a serious medical condition that occurs when blood pressure in the body's arteries is consistently too high. Blood pressure is the force of blood pushing against the walls of blood vessels as the heart pumps it. Hypertension can increase the risk of heart disease, brain disease, kidney disease, and premature death.
PrudentRx: A Resource for Patient Education and Engagement
Intellectual Disability
1. • DONOT USE MEDICAL AND TECHNICAL TERMS,
• Using the videos & Image give simple explanations of each of the
types along with few prominent features..
Ambuj Kushawha
Akshar Trust
2.
3.
4.
5.
6.
7. Chromosomal Abnormalities
• Down syndrome (sometimes called Down’s syndrome) is a condition in
which a child is born with an extra copy of their 21st chromosome — hence
its other name, trisomy 21. This causes physical and mental developmental
delays and disabilities.
Down’s syndromes
• mild to severe intellectual disability. It affects both males and females, but
females usually have milder symptoms.
Fragile X syndrome
• trisomy X and 47,XXX, is characterized by the presence of an
extra X chromosome in each cell of a female. Those affected are often taller
than average. Usually there are no other physical differences and normal
fertility.
Trisomy X syndrome
• Turner syndrome, a condition that affects only females, results when one of
the X chromosomes (sex chromosomes) is missing or partially missing.
Turner’s syndrome
8. S.No
.
IQ Intelligence quotient Degree (IQ)
1. Gifted 120-135
2. Genius 115-120
3. Superior 110-115
4. Average 90-110
5. Border line 90-70
6. Mild 70-50
7. Moderate 50-35
8. Severe 50-35
9. Severe to Profound 35-20
10. Profound 20 Below