Fragile x syndrome
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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.
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Fragile x syndrome
Fragile X syndrome is a genetic disorder and the most common inherited form of intellectual disability. It is caused by a mutation on the X chromosome that results in failure to produce a protein called FMRP. Without this protein, synaptic connections in the brain are abnormal. Fragile X syndrome symptoms can include cognitive impairment, behavioral and learning challenges, and various physical characteristics. While there is no cure, treatment aims to manage symptoms through educational support, therapies, and medications. Research continues on developing targeted drug therapies to treat the underlying condition.
Fragile X Syndrome
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
Fragile x Syndrome
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.
Fragile x syndrome
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.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Fragile x syndrome
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.
Fragile X Syndrome (FXS)
The overview and the description of overall pathology of Fragile X Syndrome. Also, explaining the genetic aspect of the mutation.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
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Fragile x syndrome
Fragile X syndrome is a genetic disorder and the most common inherited form of intellectual disability. It is caused by a mutation on the X chromosome that results in failure to produce a protein called FMRP. Without this protein, synaptic connections in the brain are abnormal. Fragile X syndrome symptoms can include cognitive impairment, behavioral and learning challenges, and various physical characteristics. While there is no cure, treatment aims to manage symptoms through educational support, therapies, and medications. Research continues on developing targeted drug therapies to treat the underlying condition.
Fragile X Syndrome
Fragile X Syndrome (FXS) is caused by a mutation on the X chromosome involving expansion of the CGG repeat in the FMR1 gene. This leads to hypermethylation and reduced production of the Fragile X Mental Retardation Protein (FMRP). Lack of FMRP results in excessive mGluR signaling and protein synthesis at synapses. FXS is characterized by intellectual disability, autism-like behaviors, and various physical features. Testing involves genetic tests like PCR and Southern blot. Treatment focuses on mGluR antagonists to reduce excessive signaling, with several drugs in clinical trials showing promise based on preclinical findings in animal models of FXS.
Fragile x Syndrome
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.
Fragile x syndrome
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.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.
Fragile x syndrome
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.
Fragile X Syndrome (FXS)
The overview and the description of overall pathology of Fragile X Syndrome. Also, explaining the genetic aspect of the mutation.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.
Fragile X syndrome is a genetic condition and the most common inherited cause of intellectual disability. It is caused by a mutation on the X chromosome that results in reduced production of the FMRP protein, important for neural development. Signs may include prominent ears, long face, joint flexibility, and cognitive impairment. Diagnosis is made through genetic testing. While there is no cure, treatment aims to manage symptoms through education, therapy and medication. Ongoing research studies new drugs that target underlying mechanisms.
Fragile x syndrome
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.
Fragile X presentation
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 syndrome
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
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
Fragile X Syndrome
Fragile X syndrome is caused by mutations in the FMR1 gene located on the X chromosome. There are three main types of mutations - normal, premutation, and full mutation - defined by the number of CGG repeats in the FMR1 gene. A full mutation with over 200 CGG repeats causes methylation and silencing of the FMR1 gene, resulting in little or no production of the FMRP protein and causing the symptoms of fragile X syndrome. The document discusses the history, genetics, diagnosis, and effects of fragile X syndrome. It also presents a case study examining the results of prenatal testing for a pregnant woman.
Williams Syndrome
Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Fragile X syndrome
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.
Fragile x syndrome
Fragile X Syndrome is an inherited genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from producing the Fragile X Mental Retardation Protein (FMRP), which is important for brain development. Individuals with over 200 CGG repeats on the FMR1 gene have a full mutation that causes Fragile X Syndrome. Symptoms include physical, behavioral, cognitive, and learning deficiencies such as motor/speech delays, hyperactivity, poor reasoning skills, and difficulty with cause and effect. Treatments focus on educational and behavioral interventions to improve social skills, intellectual ability, and adaptive functioning through programs like occupational therapy and specialized medication.
Fragile x syndrome
Fragile X syndrome is caused by a mutation on the FMR1 gene on the X chromosome. It is the most common inherited cause of intellectual disability. The mutation involves a trinucleotide CGG repeat that silences the FMR1 gene, preventing production of the FMRP protein needed for normal brain development. Affected individuals have intellectual disabilities, autism-like behaviors, anxiety, and other issues. Males typically have more severe symptoms than females. While there is no cure, early intervention and therapies can help manage symptoms.
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Fragile x syndrome
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.
Fragile X presentation
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 syndrome
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
Fragile X syndrome is a genetic condition caused by a mutation on the X chromosome. It results in the silencing of the FMR1 gene and inability to produce the FMRP protein required for normal neural development. Symptoms include intellectual disabilities, distinct physical features like large ears and jaw, and behaviors such as anxiety, hyperactivity and autism. While there is no cure, treatment focuses on therapies to improve speech, motor skills, and behaviors, as well as medications to manage symptoms like attention issues. It is the most common inherited form of intellectual disability.
Fragile X Syndrome
Fragile X syndrome is caused by mutations in the FMR1 gene located on the X chromosome. There are three main types of mutations - normal, premutation, and full mutation - defined by the number of CGG repeats in the FMR1 gene. A full mutation with over 200 CGG repeats causes methylation and silencing of the FMR1 gene, resulting in little or no production of the FMRP protein and causing the symptoms of fragile X syndrome. The document discusses the history, genetics, diagnosis, and effects of fragile X syndrome. It also presents a case study examining the results of prenatal testing for a pregnant woman.
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Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Fragile X syndrome
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.
Fragile x syndrome
Fragile X Syndrome is an inherited genetic condition caused by a mutation on the X chromosome that prevents the FMR1 gene from producing the Fragile X Mental Retardation Protein (FMRP), which is important for brain development. Individuals with over 200 CGG repeats on the FMR1 gene have a full mutation that causes Fragile X Syndrome. Symptoms include physical, behavioral, cognitive, and learning deficiencies such as motor/speech delays, hyperactivity, poor reasoning skills, and difficulty with cause and effect. Treatments focus on educational and behavioral interventions to improve social skills, intellectual ability, and adaptive functioning through programs like occupational therapy and specialized medication.
Fragile x syndrome
Fragile X syndrome is caused by a mutation on the FMR1 gene on the X chromosome. It is the most common inherited cause of intellectual disability. The mutation involves a trinucleotide CGG repeat that silences the FMR1 gene, preventing production of the FMRP protein needed for normal brain development. Affected individuals have intellectual disabilities, autism-like behaviors, anxiety, and other issues. Males typically have more severe symptoms than females. While there is no cure, early intervention and therapies can help manage symptoms.
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Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some patients may develop a swallowing disorder. MD is not contagious and cannot be brought on by injury or activity.
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Color blindness, also known as color vision deficiency, is the inability to perceive differences between some colors that others can distinguish. It is often genetic but can also be caused by eye, nerve, or brain damage or chemical exposure. The most common types are red-green deficiencies but it is also possible to be deficient in blue perception or see only in black and white. Color blindness is diagnosed using tests that show numbers or patterns embedded in color plates that those with normal color vision can see but those who are color deficient may not be able to distinguish.
Heamophilia
Hemophilia is a common hereditary coagulation disorder due to deficiency or reduce activity of clotting factor VIII or clotting factor IX.
This disorder is a X- linked recessive disorder.
Types:
Hemophilia A- deficiency of clotting factors VIII
Hemophilia B- deficiency of clotting factors IX
Hemophilia C- deficiency of clotting factors XI
Parahaemophilia- deficiency of clotting factor V
Causes of hemophilia
Hemophilia has a sex-linked recessive inheritance.
In most cases Hemophilia caused by a mutation in a gene that encodes for one of the clotting factors .
Since the hemophilia gene is located on the X chromosome, Hemophilia usually occurs in males, and Female is the carrier of hemophilia.
Diagnosis
Complete blood cell count
Coagulation studies
FVIII assay
Normal values for FVIII assays are 50-150%. Values in hemophilia are as follows:
Mild: >5%
Moderate: 1-5%
Severe: <1%
Treatment of Hemophilia
Other Types of Treatment
Desmopressin (DDAVP)
Antifibrinolytic Medicines
Vaccinations- hepatitis A and B.
Gene Therapy
Gene Therapy
New Drugs for Hemophilia treatment
New Drugs for Hemophilia treatment
Bangladesh perspectives
Bangladesh would have 10800 hemophiliacs.
But, initially the patients does not concern about hemophilia.
Patients are usually diagnosed only after bleeding episode and sometimes the episode are causes serious consequences.
Conclusion
Primary diagnosis with the success of gene therapy and availability of the new bioengineered products the prospect of the hemophiliacs will be brighter in near future.
Colour vision & colour blindness
This document discusses colour vision and colour blindness. It begins by explaining how colour vision works through the visual system's cone cells and their sensitivity to different wavelengths of light. It then describes the two main theories of colour vision: Young-Helmholtz trichromatic theory involving red, green and blue cones, and Hering's opponent process theory. The rest of the document details different types of colour blindness, methods for testing colour vision, and explains that while colour blindness cannot be cured, special lenses can help some colour blind individuals distinguish some colours.
Muscular Dystrophy & Myasthenia Gravis ppt
Muscular Dystrophy & Myasthenia Gravis - PPT
By Prof. Dr. R. R. Deshpande
• This PPT is based on the – Syllabus of CCIM ( 2014) for4th BAMS – Kayachikitsa subject – Paper 2 Part A Point No 5 .
• Contents of PPT are – Causes ,Symptoms & Treatment of Muscular Dystrophy & Myasthenia Gravis
• Visit – www.ayurvedicfriend.com
• Phone – 922 68 10 630
X chromosome inactivation ambaye, s. & mujahed, h.
This document summarizes the molecular mechanisms and genetic consequences of X-chromosome inactivation. It describes how females equalize X-linked gene expression through randomly inactivating one of the two X chromosomes in their cells. The inactivation process is initiated by the XIST gene, which codes for a non-coding RNA that coats the inactive X and recruits chromatin modifiers to silence it. This results in cellular mosaicism in females and protects them from X-linked mutations while equalizing dosage between males and females.
Lyon hypothesis-X-inactivation-mosaic formation
This document discusses X chromosome inactivation and mosaicism. It explains that females have two X chromosomes while males have one, so females inactivate one X chromosome randomly in each cell early in development. This process, called Lyonization, equalizes X-linked gene expression between males and females. As a result, females are mosaics with some cells expressing genes from the maternal X and others from the paternal X. This can cause mild symptoms in carriers of X-linked disorders. Mosaicism can also occur when cells lose an X chromosome during development, producing a mixture of XX and XO cells.
Color blindness powerpoint
Colour blindness is a genetic condition that makes it difficult or impossible to distinguish between certain colours. It is caused by mutations in genes related to colour perception and is more common in males. The symptoms of colour blindness vary between individuals and can range from trouble distinguishing between red and green to seeing only shades of black, white and grey. While there is no cure, colour blindness can be tested for using pseudoisochromatic plates or Ishihara tests, and filters may help some people better distinguish colours. Recent research has shown that gene therapy may one day provide an option to treat colour blindness.
Night Blindness
Night blindness, also known as nyctalopia, is a condition where it is difficult or impossible to see in low light conditions. It can be present from birth or caused by injury or malnutrition, especially vitamin A deficiency. The main causes of night blindness include vitamin A deficiency, retinitis pigmentosa, congenital night blindness, pathological myopia, peripheral cortical cataracts, and advanced primary open angle glaucoma. The underlying cause must be treated, such as supplementing vitamin A for a deficiency or surgery for retinitis pigmentosa.
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Trisomy 8, Turners syndrome, Triple X: A Case Report
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Pervasive developmental disorders (turner syndrome, klinefelter's syndrome
Pervasive developmental disorders (turner syndrome, klinefelter's syndrome
X chromosome inactivation ambaye, s. & mujahed, h.
X chromosome inactivation ambaye, s. & mujahed, h.
Similar to Fragile x syndrome
Fs54 fragile x syndrome..inheritance
- Fragile X syndrome is caused by a change in the FMR-1 gene on the X chromosome that disrupts production of the FMRP protein. It is characterized by learning difficulties, behavioral issues, and particular physical features.
- It affects around 1 in 4,000 males and between 1 in 5,000 to 1 in 8,000 females. The condition can range from mild to severe intellectual disability.
- The number of CGG repeats in the FMR-1 gene determines its classification as normal, premutation, or full mutation, and the associated effects. Males with a full mutation are most severely affected while female carriers may be unaffected or mildly affected.
Ho fragile x_syndrome
Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome. It was first identified in 1943 and the gene causing it, FMR1, was discovered in 1991. It is the most common inherited form of intellectual disability. Symptoms include delayed development, cognitive impairment, anxiety, and other issues. There is currently no cure, but treatment includes therapies. Research shows that autism associated with Fragile X differs from idiopathic autism, and standard autism treatments may not be as effective. The condition is transmitted genetically and can be passed from parents to children.
Fragile x Syndrome 2.0
Fragile X syndrome is caused by an 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 one of the most common inherited causes of intellectual disability and can also cause physical features like prominent ears and joint flexibility. While there is no cure, treatment focuses on behavioral therapy and education.
Fragile x final
Fragile X syndrome is a genetic disorder caused by a change in the FMR1 gene on the X chromosome. It is the most common cause of inherited intellectual disability. Boys are more likely to be affected than girls due to males only having one X chromosome. Symptoms can include cognitive impairment, behavioral issues like hand flapping, and physical features such as a long face and flexible joints.
NON MENDELIAN INHERITENCE.pptx
This document presents an overview of non-Mendelian disorders. It discusses four main categories: 1) diseases caused by trinucleotide repeat mutations like Fragile X syndrome, 2) diseases caused by mutations in mitochondrial genes exhibiting maternal inheritance patterns, 3) disorders associated with genomic imprinting where either the maternal or paternal allele is silenced like Prader-Willi and Angelman syndromes, and 4) disorders associated with gonadal mosaicism in a parent resulting in more than one affected child in an autosomal dominant disease. Examples like Fragile X syndrome and Leber's hereditary optic neuropathy are described in detail to illustrate the mechanisms involved.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene that results in a CGG DNA segment being repeated over 200 times, rather than the normal 5-40 times. It causes a range of developmental problems including learning disabilities and cognitive impairment, with males usually more severely affected than females. The mutant allele is passed from an affected man to all his daughters, who are carriers but do not express the syndrome, while sons can express it. A carrier woman passes the allele to half her sons and daughters, with sons expressing it and daughters usually not. The risk of offspring depends on whether the parent is affected, a carrier, or normal.
Fragile x syndrome
Fragile X syndrome is a genetic condition caused by a trinucleotide repeat expansion in the FMR1 gene on the X chromosome. It is the most common inherited cause of intellectual disability and developmental disabilities. Symptoms include moderate to severe intellectual disabilities, distinctive facial features and connective tissue issues. It is diagnosed through genetic testing to detect the number of CGG repeats in the FMR1 gene. Management requires a multidisciplinary approach including medical care, therapies, behavioral and educational interventions.
chromosomal disorders of the human body.ppt
1. Chromosomal disorders are caused by structural or numerical abnormalities in human chromosomes that can result in genetic conditions.
2. Some examples of chromosomal disorders discussed in the document include Down syndrome, Turner syndrome, Klinefelter syndrome, and Cri-du-chat syndrome.
3. Chromosomal disorders are associated with intellectual disabilities and physical abnormalities that vary depending on which chromosome is involved in the abnormality.
Genetic disorder
This document discusses the inheritance of common pediatric genetic disorders. It describes five types of genetic disorders: chromosomal disorders, single gene disorders, polygenic disorders, mitochondrial disorders, and somatic cell disorders. Two specific chromosomal disorders are discussed in detail: Down syndrome and Turner syndrome. Down syndrome is caused by trisomy 21 and is characterized by physical and mental retardation. Turner syndrome is caused by a missing or structurally abnormal X chromosome in females and can cause short stature and infertility. Both require lifelong medical care and treatment of associated health issues.
Presentation1
Cri du Chat Syndrome is a rare genetic disorder caused by a missing part of chromosome 5, which results in a cat-like cry and physical abnormalities such as a downward eye slant and fused toes. Symptoms also include low birth weight, slow growth, and potential delays in motor skills. While there is no cure, treatment focuses on therapies to help patients reach their full potential, such as speech therapy, occupational therapy, and strategies for coping with the syndrome.
Human gnetix
The document discusses key concepts in human genetics. It defines several genetic terms like heredity, allele frequency, mutation, gene pool, and genetic drift. It also outlines common patterns of inheritance including autosomal dominant, autosomal recessive, sex-linked dominant, sex-linked recessive, and sex-influenced traits. Examples are given for each pattern. The document also describes common chromosome anomalies like polyploidy, aneuploidy, and structural abnormalities. Specific conditions resulting from genetic disorders are discussed like cystic fibrosis, sickle cell anemia, and phenylketonuria. Behavioral disorders with a genetic basis like schizophrenia and drug addiction are also summarized.
Fragile X Syndrome and Infertility
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
Dwarfism
There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz
“Single gene disorder is defined as diseases that occur due to the mutations in the single gene that ultimately form non-functional gene”.
CHROMOSOMAL ABNORMALITIES
This document discusses chromosomal abnormalities, including common abnormalities seen in children. It describes the normal human karyotype of 46 chromosomes consisting of 22 pairs of autosomes and one pair of sex chromosomes. It then discusses specific abnormalities including trisomy 21 (Down syndrome), trisomy 18, Turner syndrome, Klinefelter syndrome, and structural abnormalities involving deletions or duplications of chromosomal segments. For each condition, it provides the genetic basis and characteristic clinical features as well as treatment approaches when available.
Patterns of inheritance
This document discusses pedigree analysis and genetic inheritance patterns. It provides definitions of key terms like proband and describes the symbols and structures used in a pedigree. The main genetic inheritance patterns of autosomal dominant, autosomal recessive, X-linked, and Y-linked traits are explained. It notes that a pedigree can provide clues about a disorder's inheritance and help assess risk to family members.
Cri du chat syndrome
Jerome Le Jeune discovered Cri du Chat syndrome in 1963, which is caused by a malformed larynx and results in a cat-like cry in infants. People with Cri du Chat syndrome experience difficulties with speech, being understood, and walking, which can be frustrating for them and their families. It is a rare genetic disorder caused by a deletion within chromosome 5, and while there is no cure, treatments focus on physical, occupational, and speech therapies to help manage symptoms.
Klinefelter genetic diseas
Klinefelter syndrome is a chromosomal condition that affects male physical and cognitive development, occurring in approximately 1 in 500 males who are born with an extra X chromosome, giving them a 47,XXY chromosome pattern rather than the typical 46,XY pattern. Males with Klinefelter syndrome may experience delayed or incomplete puberty, infertility, and other physical traits that become apparent during adolescence due to a shortage of testosterone. While not inheritable, it can be treated through hormone replacement therapy such as testosterone injections to help promote typical physical development.
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Single Gene Disorder/ Mendalian Disorder - Shumaila Riaz
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Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
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