Down syndrome
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A short Presentation on Down Syndrome, based on the history taking and Clinical findings of a pediatric case presenting with the same complaint.
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Down syndrome
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.
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Down syndrome
Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 700 live births. Clinical features include intellectual disability, characteristic facial features such as a flat face, upward slanted eyes, and a protruding tongue. Individuals with Down syndrome also have an increased risk of certain medical conditions such as congenital heart defects and thyroid problems. Prenatal screening and diagnostic tests can identify Down syndrome in utero. Lifelong medical care is important to monitor development, screen for associated conditions, and support quality of life.
Down syndrome
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.
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angelmansyndrome
Angelman Syndrome is a genetic disorder characterized by developmental delay, neurological problems, frequent laughter and smiling, and absence of speech. It is caused by the absence or deletion of the UBE3A gene on chromosome 15, which regulates a protein important for neural development. While there is no known cure, early diagnosis and therapies can help improve quality of life by managing symptoms like seizures, providing physical and communication support.
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Down syndrome Class Presentation
Down Syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of a third copy of chromosome 21. It is the most common chromosome abnormality in humans, occurring in about 1 in 699 births in the US. Down Syndrome can be broken into three main types - trisomy 21 which accounts for 95% of cases, translocation Down Syndrome which is 3-4% of cases, and mosaic Down Syndrome which is less than 1% of cases. Physical features include stunted growth, slanted eyes, low-set ears, flattened nose, smaller teeth and shortened hands. Individuals with Down Syndrome often have intellectual disabilities ranging from mild to moderate and may experience delays in speech, motor skills,
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DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
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Neurocutaneous syndromes
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Pervasive developmental disorders (turner syndrome, klinefelter's syndrome)
Turner syndrome is a genetic condition that affects females, caused by missing or abnormal X chromosome. It can cause short stature, lack of sexual development at puberty, infertility, and other issues. Klinefelter syndrome is a condition in males caused by an extra X chromosome, resulting in enlarged breasts and reduced facial/body hair. Fragile X syndrome is caused by a gene on the X chromosome shutting down, leading to intellectual disabilities, large ears, joint issues, and other traits.
Down Syndrome (Medscape.com)
This document provides an overview of Down syndrome, including:
- Down syndrome is caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. It affects multiple body systems.
- Signs and symptoms include distinctive facial features, cognitive impairment, congenital heart defects, gastrointestinal issues, etc.
- Diagnosis is usually made at birth based on physical exam findings and confirmed with genetic testing. Screening and management involves monitoring for associated medical issues.
- While no cure exists, improved healthcare has greatly increased life expectancy and quality of life for those with Down syndrome.
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Down syndrome
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.
dr Mahtab
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
Presentasi kelainan kromosom
Chromosomal abnormalities occur when there are problems with chromosomes, such as an extra or missing chromosome. Some common chromosomal abnormalities include Down syndrome, which results from an extra copy of chromosome 21, and Klinefelter syndrome in males, which involves an extra X chromosome. Chromosomal abnormalities can be caused by genetic factors in the parents, occur spontaneously during reproduction, or be related to advanced maternal age. They often result in developmental delays or other health issues.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
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Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Lecture - Down Syndrome
Down syndrome is the most common chromosomal abnormality, caused by trisomy of chromosome 21. It is characterized by intellectual disability, distinctive facial features, and often congenital heart disease. The incidence increases with maternal age, ranging from 1 in 700 live births under age 20 to 1 in 35 for mothers age 45. Diagnosis is usually made based on clinical features, and confirmed with karyotyping. Management involves early intervention, education support, screening and treatment for associated medical issues.
Down Syndrome
This document provides guidelines for the basic medical surveillance of cardiac disease for people with Down syndrome. It recommends screening all newborns with Down syndrome for congenital heart defects through clinical examination and echocardiogram. It emphasizes the importance of early detection of heart defects like atrioventricular septal defects to allow for corrective surgery before irreversible damage occurs. It also notes the need for ongoing monitoring throughout life due to risks of later developing heart conditions.
angelmansyndrome
Angelman Syndrome is a genetic disorder characterized by developmental delay, neurological problems, frequent laughter and smiling, and absence of speech. It is caused by the absence or deletion of the UBE3A gene on chromosome 15, which regulates a protein important for neural development. While there is no known cure, early diagnosis and therapies can help improve quality of life by managing symptoms like seizures, providing physical and communication support.
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This document discusses the approach to managing bleeding in children. It covers various causes of bleeding including platelet disorders like thrombocytopenia from conditions like ITP, coagulation disorders, and dysfunctional fibrinolysis. It provides details on evaluating the clinical history and performing examinations and lab tests to identify the underlying cause. Specific conditions discussed in more depth include ITP, hemophilia, vitamin K deficiency, and DIC. Treatment approaches are described for replacing coagulation factors, corticosteroids, IVIG, platelet transfusions, and managing thrombotic disorders.
Short stature
1. This document provides guidance on evaluating short stature in children. It outlines steps to determine if a child's height is abnormal, investigate potential underlying causes, and decide which tests are appropriate.
2. The first steps are to measure the child's height, weight, and proportions, then compare to growth charts and calculate midparental height. Bone age testing can indicate if growth is delayed or accelerated.
3. Potential causes of short stature discussed include familial, constitutional, endocrine, congenital, chronic disease, and metabolic factors. The document provides examples of diseases for each category.
4. Recommended initial investigations include basic blood tests. Further tests are tailored to the suspected condition and may
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Turner syndrome (gonadal dysgenesis) is one of the most common chromosomal abnormalities occuring 1 in 2500 to 1 in 3000 live-born girls. It is an important cause of short stature in girls and primary amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This review briefly summarises the current knowledge about the syndrome and the management strategies.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Down syndrome Class Presentation
Down Syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of a third copy of chromosome 21. It is the most common chromosome abnormality in humans, occurring in about 1 in 699 births in the US. Down Syndrome can be broken into three main types - trisomy 21 which accounts for 95% of cases, translocation Down Syndrome which is 3-4% of cases, and mosaic Down Syndrome which is less than 1% of cases. Physical features include stunted growth, slanted eyes, low-set ears, flattened nose, smaller teeth and shortened hands. Individuals with Down Syndrome often have intellectual disabilities ranging from mild to moderate and may experience delays in speech, motor skills,
Beckwith-Wiedemann Syndrome chemistry,
Beckwith-Wiedemann syndrome is a genetic disorder associated with abnormal growth and increased risk of certain childhood cancers. It is caused by changes in chromosome 11p15, including uniparental disomy where both copies of chromosome 11 are inherited from only the father. This disrupts the normal patterns of gene expression and imprinting of genes in this region like IGF2 and CDKN1C. Affected individuals experience overgrowth and risks for tumors like Wilms tumor. While most cases are sporadic, some families show dominant inheritance. Treatment focuses on managing hypoglycemia and cancer screening.
DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
NEUROCUTANEOUS SYNDROME
This document discusses several neurocutaneous syndromes including their definitions, genetics, classifications, and key details. It provides in-depth information on Neurofibromatosis types 1 and 2, Tuberous Sclerosis, Sturge-Weber Syndrome, and Von Hippel-Lindau disease. For each condition, it outlines diagnostic criteria, clinical manifestations, management approaches, and important follow-up considerations.
Neurocutaneous syndromes
Neurocutaneous syndromes involve abnormalities of both the skin and central nervous system that are mostly inherited. Some key neurocutaneous syndromes discussed in the document include neurofibromatosis, tuberous sclerosis, Sturge Weber syndrome, incontinentia pigmenti, ataxia telangiectasia, linear nevus syndrome, hypomelanosis of Ito, and Von Hippel Lindau syndrome. They arise due to defects in ectodermal differentiation and have varied clinical manifestations affecting the skin, brain, eyes, and other organ systems. Treatment depends on the specific syndrome but may include seizure management, tumor treatment, and genetic counseling.
Genetic tests overview - Karyotype, FISH, MLPA, CMA, Sanger sequencing and NGS
This document provides an overview of common genetic tests, including their indications, techniques, advantages, and limitations. It discusses chromosomal disorders and tests like karyotyping, array comparative genomic hybridization (aCGH), fluorescence in situ hybridization (FISH), and multiplex ligation-dependent probe amplification (MLPA) that are used to detect chromosomal abnormalities. It also covers Mendelian disorders and gene tests such as Sanger sequencing, next-generation sequencing panels, clinical exome sequencing, and whole exome/genome sequencing that can be used to identify mutations underlying genetic conditions.
Pervasive developmental disorders (turner syndrome, klinefelter's syndrome)
Turner syndrome is a genetic condition that affects females, caused by missing or abnormal X chromosome. It can cause short stature, lack of sexual development at puberty, infertility, and other issues. Klinefelter syndrome is a condition in males caused by an extra X chromosome, resulting in enlarged breasts and reduced facial/body hair. Fragile X syndrome is caused by a gene on the X chromosome shutting down, leading to intellectual disabilities, large ears, joint issues, and other traits.
Down Syndrome (Medscape.com)
This document provides an overview of Down syndrome, including:
- Down syndrome is caused by trisomy of chromosome 21 and is the most common genetic cause of intellectual disability. It affects multiple body systems.
- Signs and symptoms include distinctive facial features, cognitive impairment, congenital heart defects, gastrointestinal issues, etc.
- Diagnosis is usually made at birth based on physical exam findings and confirmed with genetic testing. Screening and management involves monitoring for associated medical issues.
- While no cure exists, improved healthcare has greatly increased life expectancy and quality of life for those with Down syndrome.
Perinatal asphyxia
Perinatal asphyxia and hypoxic-ischemic encephalopathy (HIE) result from inadequate oxygen delivery to the brain near birth, leading to compromised brain metabolism. The main causes are failure to initiate or maintain breathing at birth, or impaired blood gas exchange. This can cause hypoxemia, ischemia, and ultimately neuronal cell death through mechanisms like excitotoxicity, oxidative stress, inflammation, and apoptosis. HIE is a major cause of neonatal mortality and morbidity in Kenya, with over 30% of neonatal deaths attributed to birth asphyxia and HIE. Risk factors include preeclampsia, abnormal heart rate during labor, meconium staining, and operative deliveries.
Down syndrome
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.
dr Mahtab
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
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Genetic tests overview - Karyotype, FISH, MLPA, CMA, Sanger sequencing and NGS
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Presentasi kelainan kromosom
Chromosomal abnormalities occur when there are problems with chromosomes, such as an extra or missing chromosome. Some common chromosomal abnormalities include Down syndrome, which results from an extra copy of chromosome 21, and Klinefelter syndrome in males, which involves an extra X chromosome. Chromosomal abnormalities can be caused by genetic factors in the parents, occur spontaneously during reproduction, or be related to advanced maternal age. They often result in developmental delays or other health issues.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
Pgd 121115232648-phpapp02
Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
Pgd 121115232648-phpapp02 (2)
Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development and IVF, errors in cell division can result in chromosomal abnormalities like aneuploidy, translocations, deletions, and inversions. These abnormalities increase the risk of embryo death, miscarriage, or birth defects. Preimplantation genetic diagnosis (PGD) tests embryos for chromosomal abnormalities at an early stage, allowing only healthy embryos to be implanted and improving IVF success rates. PGD is recommended for advanced maternal age, repeated IVF failure, genetic disorders, and other high-risk cases.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, so does the risk of chromosomal issues in embryos. Preimplantation genetic diagnosis (PGD) allows testing of embryos for chromosomal or genetic disorders before implantation, improving IVF outcomes. It involves removing a cell from 8-cell stage embryos and analyzing the DNA or chromosomes to identify healthy embryos for transfer. PGD is recommended for advanced maternal age, recurrent miscarriages, infertility or prior pregnancies with abnormalities.
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Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. Traditional embryo selection methods often miss these issues. Preimplantation genetic diagnosis (PGD) tests embryos for chromosomal abnormalities like aneuploidy before transfer using techniques like FISH or microarray analysis. This allows identification and transfer of only healthy embryos, improving IVF outcomes and preventing genetic disorders.
Pgd 121115232648-phpapp02
Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
Pgd 121115232648-phpapp02 (1)
Chromosomal abnormalities are a major cause of IVF failure, with only a 20% success rate. During embryo development, errors can occur that lead to an abnormal number or structure of chromosomes. As a woman's age increases, the risk of chromosomal abnormalities in embryos rises significantly. Preimplantation genetic diagnosis (PGD) is a technique that tests embryos for chromosomal or genetic disorders before implantation, improving IVF success rates and avoiding transferring an abnormal embryo. PGD involves removing a cell from an 8-cell embryo and testing its DNA or chromosomes to identify healthy embryos without genetic issues.
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This document discusses various genetic disorders and conditions, including both numerical and structural chromosomal disorders. It provides classifications of genetic disorders, descriptions of specific disorders like Down syndrome, Edward syndrome, and Patau syndrome. Details are given on karyotypes, cytogenetics, causes and characteristics of different chromosomal abnormalities.
Preimplantation genetic diagnosis
Success rates for IVF are only around 20% due to chromosomal abnormalities in embryos that often go undetected during conventional embryo selection methods. Chromosomal issues like aneuploidy, where there is an atypical number of chromosomes, can lead to embryo death, miscarriage, or health problems in babies. Preimplantation genetic diagnosis (PGD) involves testing embryos for chromosomal or genetic disorders before transferring to the womb, improving IVF success rates and preventing transmission of genetic disorders. PGD is recommended for advanced maternal age, repeated miscarriages or IVF failures, hereditary disorders, and translocation carriers.
Chromosomal abnormalities a review
With the discovery in 1956 that the correct chromosome number in humans is 46, the new era of clinical
cytogenetics began its rapid growth. During the next few years, several major chromosomal
syndromes with altered numbers of chromosomes were reported, i.e. Downsyndrome (trisomy21),
turner syndrome (45,x) and klinefelter syndrome (47,xxy). Since then it has been well established that
chromosome abnormalities contribute significantly to genetic disease resulting in reproductive loss,
infertility, stillbirths, congenital anomalies, abnormal sexual developmentmental retardation and
pathogenesis of malignancy.specific chromosome abnormalities have been associated with over 60
identifiable syndromes. They are present in at least 50% of spontaneous abortions, 6% of stillbirths,
about 5% of couples with two or more miscarriages and approximately 0.5% of newborns. In women
aged 35 or over, chromosome abnormalities are detected in about 2% of all pregnancies. Some of the
abnormalities and their clinical consequences will be Discussed in the following sections.
Down syndrome
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21, either fully or partially. It causes developmental delays and cognitive impairment. The majority (95%) of Down syndrome cases are caused by trisomy 21, where there are three copies of chromosome 21 instead of the usual two. Risk increases with the age of the mother. Screening tests during pregnancy can identify 87% of cases, and diagnostic tests like amniocentesis or CVS can confirm the diagnosis. Common physical traits include a flattened face and small stature. Individuals with Down syndrome also have an increased risk of health issues like congenital heart defects, leukemia, and early-onset Alzheimer's disease.
Recurrent pregnancy loss
Recurrent pregnancy loss is defined as the loss of three or more consecutive pregnancies. It can be caused by anatomical, genetic, infectious, immune, or other factors. Common anatomical causes include uterine abnormalities like septate uterus and fibroids. Genetic factors may include chromosomal abnormalities in the products of conception or balanced translocations in one or both parents. Infectious causes like bacterial vaginosis can also contribute. The immune condition antiphospholipid antibody syndrome, characterized by antibodies that cause blood clots, increases the risk of recurrent loss. Treatment depends on the underlying cause but may include surgery to correct uterine anomalies, antibiotics for infections, low-dose aspirin with or without heparin for antiphospholip
Genetics
This document discusses genetic patterns of common pediatric disorders. It begins by defining genetics and genetic disorders. Genetic disorders can be caused by mutations in genes from one or both parents or environmental factors. The document then classifies genetic disorders into single gene inheritance, multifactorial inheritance, and chromosomal abnormalities. It provides examples of each type and describes inheritance patterns such as autosomal dominant, autosomal recessive, and X-linked. The document concludes by discussing diagnostic tests for genetic disorders during pregnancy and for newborns.
GENETICS.pptx
Genetic disorders occur due to problems in chromosomes or genes that cause health issues or physical abnormalities. There are several types of genetic disorders including single gene disorders, chromosomal abnormalities, and multifactorial disorders. Tests for genetic disorders include screening tests to check risk and diagnostic tests to detect disorders. Genetic counseling helps patients understand risk and testing options for disorders in their family. Treatment depends on the specific disorder but may include specialized care before and after birth. Some cancers have genetic components so testing can guide prevention and screening efforts.
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This document discusses mechanisms of chromosomal abnormalities and provides details about Down syndrome. It covers 5 categories of abnormalities, focusing on aneuploidy which involves errors in chromosome segregation leading to extra or missing chromosomes. Down syndrome, the most common example, is trisomy 21 caused by nondisjunction. It causes intellectual disabilities and physical features. The document discusses karyotypes associated with Down syndrome and risk factors.
Genetic disorders
This document provides an overview of genetic disorders including their causes, inheritance, diagnosis, and treatment. It discusses how genetic disorders occur due to mutations in genes that affect protein production. Diagnosis involves examining family histories, conducting genetic tests, and looking for characteristic physical features. Common genetic disorders like Down syndrome, Huntington's disease, and Duchenne muscular dystrophy are described. Treatment focuses on managing symptoms while prognosis depends on the specific disorder. The objectives are to help audiences understand genetic disorders, inheritance patterns, diagnosis strategies and common examples.
Genetic & Epigenetic Factors
“Inheritance” in images, from Darwin’s “tree of life” to DNA’s iconic crystallography to the epigenetic dynamics However, the script needs to be interpreted and receives meaning only from the interplay with the environment
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Down syndrome
- 1. DOWN SYNDROME By S G Yadunand
- 4. DOWN SYNDROME / MONGOLISM Categorised under Cytogenetic abnormalities. • Numerical abnormality b) Structural abnormality • Most common Chromosomal disorder • Common cause for Mental Retardation (I Q >40) • Delayed Milestones (both physical and mental) • Cheerful idiot refers to a child with Mongolism
- 5. Somatic Cells – Diploid (2N) – 44 Autosomes + 2 Sex chromosomes (XX/XY) = 46 Chromosomes Germ Cells – Haploid (N) – 23 Chromosomes Down Syndrome – 46 + 1 = 47 Chromosomes
- 6. CAUSES • Trisomy of Chromosome 21 in 95% of cases so total of 47 Chromosomes instead of 46 last series of pregnancy or either first born is affected associated with pregnancy risk increases with increase in maternal age • Translocation of Chromosome 21 with Chromosome 13/14/15 in 4% cases
- 7. KEY FEATURES MOTHER’S • A 40+ y/o mother ( during the time of pregnancy ) • Delivery took place at home. • No proper labour care. • Last child born. • Less educated and poor economic family background.
- 8. KEY FEATURES BABY’S • Microcephaly with occiput. • Flat bridge of nose and short nose. • Protruding tongue. • Mongoloid strands. • Epicanthial folds. • Ear- low set and small. • Hands- short fingers and broad palm. • Palm crease- simian crease. • Feet – wide gape between big and second toes. • Delay in developmental milestones • Tend to have more fluid in their neck
- 12. COMPLICATIONS • Coronary heart diseases (50% cases) • Leukemia ( most of the cases ) • Recurrent respiratory infections • Intestinal obstruction (due to duodenal atresia) • Late onset cataract.
- 14. DIAGNOSIS • Chromosomal studies • Karyotyping
- 15. DIFFERENTIAL DIAGNOSIS • Congenital hypothyroidism • Turner syndrome • Edward syndrome • Spina bifida • Zellweger syndrome • Angelman syndrome
- 18. Thank you