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 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.
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
This document provides an overview of genetic disorders, including their classification and characteristics. It discusses autosomal and sex chromosome anomalies, both numeric and structural. Autosomal anomalies include trisomies like Down, Patau, and Edwards syndromes. Sex chromosome anomalies include Klinefelter syndrome, Turner syndrome, and Jacobs syndrome. Specific genetic disorders are also summarized, such as Cri du Chat syndrome and Alport syndrome. The document provides a high-level classification of genetic disorders and summaries of common syndromes associated with chromosomal anomalies.
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
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.
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
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.
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
This document provides an overview of genetic disorders, including their classification and characteristics. It discusses autosomal and sex chromosome anomalies, both numeric and structural. Autosomal anomalies include trisomies like Down, Patau, and Edwards syndromes. Sex chromosome anomalies include Klinefelter syndrome, Turner syndrome, and Jacobs syndrome. Specific genetic disorders are also summarized, such as Cri du Chat syndrome and Alport syndrome. The document provides a high-level classification of genetic disorders and summaries of common syndromes associated with chromosomal anomalies.
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
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.
Turner syndrome is a genetic condition characterized by complete or partial monosomy of the X chromosome, affecting about 1 in 2,500-5,000 females. Clinical features include short stature, neck webbing, protruding ears, and gonadal dysgenesis leading to infertility. It is diagnosed through karyotyping and fetal ultrasound may suggest it. Treatment involves growth hormone therapy, estrogen replacement, and managing associated conditions such as hypothyroidism, diabetes, and heart problems. Prognosis is generally good with treatment, though individuals are often shorter and infertile.
Chromosomal abnormalities can be either numerical, involving an abnormal number of chromosomes, or structural, involving changes in a chromosome's structure. Numerical abnormalities include conditions like Down syndrome which is caused by an extra copy of chromosome 21. Structural abnormalities include deletions, duplications, translocations, inversions, and insertions which alter chromosomes by removing, adding, or rearranging genetic material. Chromosomal anomalies can be inherited from a parent or occur de novo, and can affect an individual's cells mosaicly or in all cells.
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.
Telomeres are repetitive DNA sequences at the ends of chromosomes that protect chromosomal integrity. Each cell division causes telomeres to shorten as DNA replication cannot fully copy chromosome ends. When telomeres become too short, cells stop dividing or die. Telomerase is an enzyme that adds telomeric DNA to chromosome ends and counteracts shortening. While most somatic cells lack telomerase, its presence allows cancer cells and germ cells to avoid replicative aging. Maintaining telomere length through telomerase overexpression is a hallmark of cancer cells and targeting this process may lead to new anticancer therapies.
This document discusses teratogens and their effects on fetal development. It defines teratogens as any substance that can alter fetal morphology or function when the fetus is exposed. The main causes of congenital anomalies are discussed, with drugs and chemicals accounting for 5%. Several factors determine the effect of teratogens on the fetus, including developmental stage at exposure and genetic susceptibility. The effects of teratogens can be immediate, at birth, or delayed. Various teratogenic agents are outlined, including maternal medical disorders, infections, ionizing radiation, chemicals, and drugs categorized by the FDA. Specific examples of each category and their risks are provided.
This document discusses sex determination and sex expression in animals. It defines key terms like sex chromosomes, autosomes, and allosomes. It describes four main mechanisms of sex determination: sex characters, chromosomal sex determination, monogenic sex determination, and environmental sex determination. For chromosomal sex determination, it provides details on the XX-XY, XX-XO, XO-XX, and ZW-ZZ systems. It also discusses genic balance theory and sex mosaicism in Drosophila.
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
The document summarizes Drosophila development and genetics. It discusses Drosophila's life cycle, egg polarity genes that establish the dorsal-ventral and anterior-posterior axes, segmentation genes that determine body segments, and homeotic genes that specify segment identity. It also mentions genetic mutations in Drosophila that are named after their phenotypes, such as brown eye color (bw) and vestigial wings (vg). Drosophila has been a useful model organism for genetic analysis due to its short life cycle, large progeny numbers, and techniques like balancer chromosomes that help preserve gene linkages.
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
Karyotyping is a technique used in cytogenetics to examine chromosomes and identify genetic abnormalities that can cause disorders or disease. It involves collecting a cell sample, treating the cells to synchronize them in metaphase, staining the chromosomes, and analyzing the number, size, shape, and banding pattern of chromosomes to create a karyotype. Abnormal karyotypes can provide information about genetic conditions like Down syndrome, Klinefelter syndrome, and Turner syndrome. The main purpose is to detect changes in chromosome number or structure that can help diagnose these genetic disorders.
Chromosomal disorders occur when there are changes in the number or structure of chromosomes. These changes can result in problems with growth, development and body functioning. There are two main types of chromosomal disorders: numerical aberrations which are changes in chromosome number, and structural aberrations which are changes in chromosome structure such as deletions, duplications, translocations, inversions, and ring chromosomes. Common chromosomal disorders include Down syndrome, Klinefelter syndrome, and Turner syndrome.
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.
Chromosomal abnormalities are alterations in a person's karyotype that can be detected by studying their chromosomes. There are two main types: numerical abnormalities which involve changes in chromosome number like monosomy, trisomy, Klinefelter syndrome, and Down syndrome; and structural abnormalities which involve changes in chromosome structure like deletions, duplications, translocations, and inversions. Common numerical abnormalities result in conditions such as Turner syndrome, Klinefelter syndrome, and Down syndrome which can cause intellectual disabilities and other health issues.
This document discusses teratogenesis, which refers to structural or functional defects in a developing embryo or fetus caused by environmental factors. It identifies several categories of teratogens, including drugs/chemicals, ionizing radiation, infections, and pollutants. Specific teratogens are mentioned such as alcohol, retinoic acid, and rubella virus. The timing and amount of exposure to a teratogen, as well as genetics, influence the risk of prenatal defects. The study of teratogenesis is called teratology.
Sex chromosomes determine an organism's sex. In most animals, females have two of the same sex chromosome (XX) while males have two different ones (XY). Some organisms use other systems like ZW chromosomes. The discovery of sex chromosomes began in the late 1800s with observations of fireflies and grasshoppers. Sex is also determined by factors like temperature, parasites, size, metabolism and hormones in some species. In humans, the Y chromosome carries the SRY gene which triggers testis development.
Edwards syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is the second most common autosomal trisomy after Down syndrome. The majority of fetuses with Edwards syndrome die before birth and those that survive often have heart abnormalities, kidney malformations, and other organ disorders. Prenatal testing like amniocentesis or chorionic villus sampling is used to diagnose Edwards syndrome by analyzing fetal chromosomal material to detect the additional copy of chromosome 18.
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
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.
Klinefelter syndrome is a genetic condition where males are born with an extra X chromosome, resulting in XXY chromosomes instead of the typical XY. It was first described in 1942 and causes issues like infertility, low testosterone, and larger breasts. The condition occurs in about 1 in 1000 males and is diagnosed through hormone testing and chromosome analysis. While there is no cure, treatments can help manage symptoms like low muscle tone, delayed puberty, and small testes through testosterone therapy and other interventions.
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
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.
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide range of phenotypic variation
Chromosomal abnormalities can be either numerical, involving an abnormal number of chromosomes, or structural, involving changes in a chromosome's structure. Numerical abnormalities include conditions like Down syndrome which is caused by an extra copy of chromosome 21. Structural abnormalities include deletions, duplications, translocations, inversions, and insertions which alter chromosomes by removing, adding, or rearranging genetic material. Chromosomal anomalies can be inherited from a parent or occur de novo, and can affect an individual's cells mosaicly or in all cells.
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.
Telomeres are repetitive DNA sequences at the ends of chromosomes that protect chromosomal integrity. Each cell division causes telomeres to shorten as DNA replication cannot fully copy chromosome ends. When telomeres become too short, cells stop dividing or die. Telomerase is an enzyme that adds telomeric DNA to chromosome ends and counteracts shortening. While most somatic cells lack telomerase, its presence allows cancer cells and germ cells to avoid replicative aging. Maintaining telomere length through telomerase overexpression is a hallmark of cancer cells and targeting this process may lead to new anticancer therapies.
This document discusses teratogens and their effects on fetal development. It defines teratogens as any substance that can alter fetal morphology or function when the fetus is exposed. The main causes of congenital anomalies are discussed, with drugs and chemicals accounting for 5%. Several factors determine the effect of teratogens on the fetus, including developmental stage at exposure and genetic susceptibility. The effects of teratogens can be immediate, at birth, or delayed. Various teratogenic agents are outlined, including maternal medical disorders, infections, ionizing radiation, chemicals, and drugs categorized by the FDA. Specific examples of each category and their risks are provided.
This document discusses sex determination and sex expression in animals. It defines key terms like sex chromosomes, autosomes, and allosomes. It describes four main mechanisms of sex determination: sex characters, chromosomal sex determination, monogenic sex determination, and environmental sex determination. For chromosomal sex determination, it provides details on the XX-XY, XX-XO, XO-XX, and ZW-ZZ systems. It also discusses genic balance theory and sex mosaicism in Drosophila.
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by mild to moderate intellectual disability and distinctive facial features. The document discusses the history, genetics, clinical features, health issues, diagnosis and management of Down syndrome. Key points include that the risk increases with maternal age, common physical signs include a flat facial profile and hypotonia, associated conditions affect the heart, GI tract and thyroid, and treatment involves screening and early intervention.
The document summarizes Drosophila development and genetics. It discusses Drosophila's life cycle, egg polarity genes that establish the dorsal-ventral and anterior-posterior axes, segmentation genes that determine body segments, and homeotic genes that specify segment identity. It also mentions genetic mutations in Drosophila that are named after their phenotypes, such as brown eye color (bw) and vestigial wings (vg). Drosophila has been a useful model organism for genetic analysis due to its short life cycle, large progeny numbers, and techniques like balancer chromosomes that help preserve gene linkages.
Turner syndrome is a chromosomal condition that affects female development. It occurs when one of the two X chromosomes is missing or incomplete in girls, resulting in short stature, infertility, and other physical signs. Treatment focuses on growth hormone therapy, estrogen replacement, managing heart and hearing issues, and monitoring for high blood pressure, thyroid problems, and diabetes. While women with Turner syndrome are typically infertile, pregnancy may potentially be possible with donor embryos and medical support.
Karyotyping is a technique used in cytogenetics to examine chromosomes and identify genetic abnormalities that can cause disorders or disease. It involves collecting a cell sample, treating the cells to synchronize them in metaphase, staining the chromosomes, and analyzing the number, size, shape, and banding pattern of chromosomes to create a karyotype. Abnormal karyotypes can provide information about genetic conditions like Down syndrome, Klinefelter syndrome, and Turner syndrome. The main purpose is to detect changes in chromosome number or structure that can help diagnose these genetic disorders.
Chromosomal disorders occur when there are changes in the number or structure of chromosomes. These changes can result in problems with growth, development and body functioning. There are two main types of chromosomal disorders: numerical aberrations which are changes in chromosome number, and structural aberrations which are changes in chromosome structure such as deletions, duplications, translocations, inversions, and ring chromosomes. Common chromosomal disorders include Down syndrome, Klinefelter syndrome, and Turner syndrome.
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.
Chromosomal abnormalities are alterations in a person's karyotype that can be detected by studying their chromosomes. There are two main types: numerical abnormalities which involve changes in chromosome number like monosomy, trisomy, Klinefelter syndrome, and Down syndrome; and structural abnormalities which involve changes in chromosome structure like deletions, duplications, translocations, and inversions. Common numerical abnormalities result in conditions such as Turner syndrome, Klinefelter syndrome, and Down syndrome which can cause intellectual disabilities and other health issues.
This document discusses teratogenesis, which refers to structural or functional defects in a developing embryo or fetus caused by environmental factors. It identifies several categories of teratogens, including drugs/chemicals, ionizing radiation, infections, and pollutants. Specific teratogens are mentioned such as alcohol, retinoic acid, and rubella virus. The timing and amount of exposure to a teratogen, as well as genetics, influence the risk of prenatal defects. The study of teratogenesis is called teratology.
Sex chromosomes determine an organism's sex. In most animals, females have two of the same sex chromosome (XX) while males have two different ones (XY). Some organisms use other systems like ZW chromosomes. The discovery of sex chromosomes began in the late 1800s with observations of fireflies and grasshoppers. Sex is also determined by factors like temperature, parasites, size, metabolism and hormones in some species. In humans, the Y chromosome carries the SRY gene which triggers testis development.
Edwards syndrome is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is the second most common autosomal trisomy after Down syndrome. The majority of fetuses with Edwards syndrome die before birth and those that survive often have heart abnormalities, kidney malformations, and other organ disorders. Prenatal testing like amniocentesis or chorionic villus sampling is used to diagnose Edwards syndrome by analyzing fetal chromosomal material to detect the additional copy of chromosome 18.
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
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.
Klinefelter syndrome is a genetic condition where males are born with an extra X chromosome, resulting in XXY chromosomes instead of the typical XY. It was first described in 1942 and causes issues like infertility, low testosterone, and larger breasts. The condition occurs in about 1 in 1000 males and is diagnosed through hormone testing and chromosome analysis. While there is no cure, treatments can help manage symptoms like low muscle tone, delayed puberty, and small testes through testosterone therapy and other interventions.
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
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.
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. However, not all defects occur in each patient; there is a wide range of phenotypic variation
A review study on down syndrome disease RidwanMusa5
Down syndrome is a genetic condition caused by the presence of an extra chromosome 21. It causes delays in physical and intellectual development. The document discusses the history, causes, signs and symptoms, diagnosis and prognosis, treatment options, complications, prevention strategies, management approaches, and outcomes of Down syndrome. Early intervention, screening for common health issues, addressing medical needs, and providing a supportive family environment can help improve development for those with Down syndrome.
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.
Genetics is the study of genes, heredity, and inherited traits. Medical genetics deals with genetic causes of human diseases. The document discusses several types of chromosomal abnormalities including trisomies like Down syndrome, Edwards syndrome, and Patau syndrome. It also discusses sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, and other conditions. Structural abnormalities of chromosomes including deletions, duplications, translocations, and microdeletions are also summarized. Chromosomal abnormalities are a major cause of genetic diseases and pregnancy complications.
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. Down syndrome cannot be cured but treatments can help improve motor skills and quality of life.
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.
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 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.
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 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.
Chromosomal abnormalities occur when there is an abnormal number or structure of chromosomes and can result in congenital disorders. Some common abnormalities include trisomies like Down syndrome which is caused by an extra copy of chromosome 21, and monosomies like Turner syndrome caused by missing one sex chromosome. Other abnormalities involve chromosomal translocations or deletions. Early diagnosis and treatment that addresses medical, developmental, and educational needs can help those with chromosomal disorders reach their highest potential.
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.
Chromosomal abnormalities are genetic variations involving changes in chromosome number or structure. They can be numerical, involving extra or missing chromosomes, or structural, with changes like deletions or duplications. Some common examples are Down syndrome, which involves an extra copy of chromosome 21, and Turner syndrome, where one X chromosome is missing. Chromosomal abnormalities are caused by errors in cell division and some risks increase with parental age. While they often cause physical and cognitive impairments, many people live full lives with proper management of symptoms.
This document provides information about Down syndrome, including its causes, risk factors, types, symptoms, diagnosis, treatment, and prevention. Down syndrome is a chromosomal disorder caused by the presence of all or part of an extra copy of chromosome 21. It was first described in 1887 by John Langdon Down. The estimated worldwide incidence is between 1 in 1,000 to 1 in 1,100 live births. Over 95% of cases are caused by Trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Screening and diagnostic tests during pregnancy can determine if a fetus has Down syndrome. Therapies after birth focus on physical, speech, occupational and behavioral therapy. While Down syndrome cannot be
This document discusses several genetic disorders including Down syndrome, Turner syndrome, and Klinefelter syndrome. It defines key genetic terms and classifications of genetic disorders. Down syndrome is caused by trisomy 21 and results in intellectual disabilities and characteristic physical features. Turner syndrome is a monosomy disorder where females are missing an X chromosome, leading to short stature and infertility. Klinefelter syndrome is a polysomy disorder where males have an extra X chromosome, causing tall stature and lack of male characteristics.
Down syndrome is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material causes developmental delays and other issues. Down syndrome can range from mild to severe depending on the individual. The majority of Down syndrome cases are not inherited and are caused by random errors during cell division. Common physical signs include a flattened face, small ears and mouth, upward slanting eyes, and decreased muscle tone at birth. The risk of having a child with Down syndrome increases with the mother's age. Screening tests during pregnancy can detect 87% of Down syndrome cases. Diagnostic tests like amniocentesis or CVS can confirm a Down syndrome diagnosis. Individuals with Down syndrome may experience health
This document provides information about diagnosing and screening for Down syndrome during pregnancy. It discusses the three main genetic causes of Down syndrome and describes diagnostic tests like amniocentesis and chorionic villus sampling that can provide a definitive diagnosis. It also covers various screening tests that estimate the risk of Down syndrome, including tests analyzing markers in the first and second trimesters. The accuracy of screening tests varies, with integrated tests using markers from both trimesters providing the best screening.
Rotavirus is a major cause of diarrhea in infants and young children worldwide. It spreads easily between people through contaminated food or surfaces. The virus causes infection and inflammation of the intestinal tract, leading to diarrhea and dehydration. Diagnosis involves detecting the virus in stool samples using tests like ELISA or electron microscopy. Treatment focuses on rehydration through oral rehydration therapy. Handwashing and sanitation can help prevent transmission. Two live, oral rotavirus vaccines provide protection against severe diarrhea from the most common strains.
This document discusses intellectual property rights (IPR) such as patents, copyrights, and trademarks. It focuses on patents, explaining what they are, how they are granted, requirements for patents, types of patent infringement, limitations of patents, and some notable patent cases from India involving drugs like Turmeric, Neem, and Glivec. Patents provide inventors exclusive rights to commercially use their inventions for a limited time period, usually 20 years, to protect their intellectual property from being copied. The document delves into the patent process and requirements including novelty, non-obviousness, and disclosure of the invention.
The document discusses various aspects of the pharmaceutical industry. It describes the different departments in a pharmaceutical company including IT, finance, human resources, supply chain, marketing, and others. It also discusses the manufacturing process which involves obtaining raw materials, testing drugs in laboratory phases, gaining regulatory approval, and packaging medications for distribution. The industry plays an important role in India's economy and healthcare sector.
Novartis is a global healthcare company headquartered in Switzerland that employs over 115,000 people worldwide. It was created in 1996 through the merger of Ciba-Geigy and Sandoz. Novartis operates in India through four entities and has a presence in pharmaceuticals, generics, vaccines, consumer health, eye care, and animal health. Some of Novartis' most visible and successful products include the diabetes drug Galvus, the hypertension drug Diovan, and the anticonvulsant Tegretol.
The Cough and Cold Medicine Manufacturing OTC industry is in the mature stage of its life cycle, indicated by high public acceptance and a stable number of manufacturers. The industry's value added is forecast to rise at an average annual rate of 1.0% over 10 years, in line with GDP growth. Market research was conducted among doctors and pharmacists in Bhayander to understand prescribing patterns for cough syrups. The research found that 60% of doctors prefer diphenhydramine as the first molecule for treating cough. The Tusspel Plus brand from Indoco Remedies is most commonly prescribed. Pharmacists reported Tusspel Plus, Zeet, Alex and Ascoril as the best-selling brands besides Ben
Obesity is defined as excessive body weight compared to a person's healthy weight. It is caused by an accumulation of fat in the body due to factors like inactivity, unhealthy diet, pregnancy, lack of sleep, and some medications. Symptoms include abnormal body size, inability to perform daily tasks, restlessness, joint pain, and increased risk of health issues like high cholesterol and blood sugar. Treatment involves doctor consultation, dietary changes, exercise, and sometimes medications like Orlistat, Rimonabant, and Sibutramine that work to reduce fat absorption or food intake. Obesity is a growing problem in India and increases the risk of health conditions like diabetes, with Indian youth and some states having obesity rates as
The document defines constipation as having very hard stools and difficulty during defecation requiring straining. Constipation can be caused by simple factors like inadequate fiber/fluid intake or lack of activity, or secondary factors like certain drugs or medical conditions. Diagnosis involves taking a clinical history, physical exam, and potentially diagnostic tests like sigmoidoscopy or colonoscopy. Treatment involves general measures like diet and exercise, as well as laxatives which work through different mechanisms like bulking, stimulating, drawing water into the intestines, or softening stools. Constipation is a common problem that affects around 12% of the global population and costs billions to treat annually.
Market research questionnaire based on benadrylSaurabh wani
This market research questionnaire aims to gather opinions from doctors and chemists on cough treatments. It asks doctors which company's molecule and brand they prefer for cough treatment. Chemists are asked which medicine doctors highly prescribe for cough and their opinion on the status of Benadryl as a treatment.
1. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans, affecting over 200 million people worldwide.
2. G6PD deficiency results from mutations in the G6PD gene and causes decreased production of NADPH, leading to hemolytic anemia in response to oxidative stress.
3. Diagnosis is made through tests that measure G6PD enzyme activity levels in red blood cells, with deficiency diagnosed if levels are significantly decreased. Management focuses on avoiding triggers that cause hemolysis and blood transfusions in acute cases.
This document discusses dose-response relationships and dose-response curves. It defines dose as the amount of drug administered and response as the effect on the body. The relationship between dose and response can be illustrated with a dose-response curve, which is typically a rectangular hyperbola. Dose-response curves are used to determine the appropriate dose of a drug and compare effects across doses and individuals. The document also discusses factors like potency, efficacy, thresholds, and how dose-response curves can be graded or quantal depending on the type of response measured.
An interview is a conversation between two people where one person asks questions to gain information from the other person. Speciality interviews focus on a particular field or area of expertise. The purpose of an interview is to assess a candidate's qualifications, skills, and personality for a job position. Interviews at multinational pharmaceutical companies may differ from those at Indian pharmaceutical companies in their focus or structure.
This document provides information about glucose-6-phosphate dehydrogenase (G6PD) deficiency. It discusses the discovery and function of the G6PD enzyme, describes how mutations in the G6PD gene cause the deficiency, outlines its inheritance as an X-linked recessive trait, and summarizes the clinical manifestations including favism and hemolytic anemia. It also covers diagnosis, classification of variants, frequency in different populations, and treatment approaches for acute hemolysis episodes.
Rotavirus is a major cause of diarrhea in infants and young children worldwide. It spreads easily between people through the fecal-oral route. Diagnosis is made through enzyme immunoassays detecting the virus in stool samples. Treatment focuses on fluid replacement through oral rehydration therapy. Two oral rotavirus vaccines provide protection against the most common strains causing infection. Development of an indigenous rotavirus vaccine called Rotavac could help reduce the 100,000 annual child deaths from rotavirus in India.
3. WHAT IS TURNER’S SYNDROME
• Turner’s syndrome is a genetic condition
that only affects females
• This condition is caused by an abnormal
chromosome and affects about one in
every 2,500 baby girls, but is much more
common among pregnancies that do not
survive to term [miscarriages and
stillbirths]
• Turner’s syndrome was named after Dr
Henry turner the endocrinologist in year
1938
4. CAUSES OF TURNER SYNDROME
• Turner’s syndrome is typically caused by nondisjunction
• A pair of sex chromosome fails to separate during the formation of egg or
sperm so when an abnormal egg unites with a normal sperm to form an
embryo that embryo ends up missing one of the sex chromosome (X rather
than XX)
• "45X” meaning that an individual has 44 autosomes and a single X chromosome
8. HOW COMMON IS TURNER SYNDROME
• Turner syndrome affects 71000 females in
United states
• Most pregnancies that are affected by turner’s
syndrome results in miscarriages 10% of
miscarriages are caused by turner syndrome
• 1/2500 female births are related to turner
syndrome
9. DIAGNOSIS OF TURNER SYNDROME
• Turner syndrome may be suspected in pregnancy during an ultrasound test. This
can be confirmed by prenatal testing amniocentesis - to obtain cells from the
unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the
baby may be under the care of a specialist pediatrician immediately after birth.
• Diagnosis is confirmed by a blood test called a karyotype. This is used to analyse
the units that make up the child’s chromosomes.
• For a child with Turner syndrome, the earlier the diagnosis, the better the
prospects for treatment. Children who are shorter than normal are often seen by
a pediatric endocrinologist, who is a doctor specializing in treating children with
growth problems.
10. TREATMENT FOR TURNER’S SYNDROME
• Growth hormone injections are beneficial in some individuals with Turner
syndrome. Injections often begin in early childhood and may increase final
adult height by a few inches.
• Estrogen replacement therapy is usually started at the time of normal
puberty, around 12 years to start breast development
• Babies born with a heart murmur or narrowing of the aorta may need surgery
to correct the problem. A heart expert (cardiologist) will assess and follow up
any treatment necessary.
• Girls who have Turner syndrome are more likely to get middle ear infections.
Repeated infections may lead to hearing loss and should be evaluated by the
pediatrician. An ear, nose and throat specialist (ENT)
11. REFRENCES FOR TURNER’S SYNDROME
• Introduction of Turner’s syndrome
http://www.nhs.uk/conditions/turners syndrome/page/introduction.aspx
• diagnosis and treatment of Turners syndrome
http://www.medicinenet.com/turner-syndrome/article.html
• How common is turners syndrome
http://turnerssyndrome.org/learn-about-ts/fact-sheet
• Turner’s syndrome clinical features
http://www.norditropinhcp.com/turnersyndrome.aspx
• Monosomy X-turner’s syndrome45,X
http://www.meddean.luc.edu/lumen/med/genetics/disease/turner.html
12. Karyotype for turner's syndrome
http://www.net-infirmers.com/le-syndrome-de-turner-enquelques-mots
Causes for turner’s syndrome
http://learn.genetics.Utah.edu/content/disorders/chromosomal/turner/html
13. WHAT IS DOWN’S SYNDROME
• Dr. John Langdon Down described the
syndrome in 1866.
• Down syndrome is one of the first symptom
complexes associated with mental retardation
to be identified as a syndrome.
• Down syndrome is a congenital condition
caused by an extra chromosome. The presence
of an extra number 21 chromosome causes the
distinctive facial features, physical
characteristics and the cognitive impairments
seen in people with Down syndrome
14. • People with Down syndrome may have a variety of birth defects. About half
of all affected children are born with a heart defect. Digestive abnormalities,
such as a blockage of the intestine
• Individuals with Down syndrome have an increased risk of developing several
medical conditions. These include gastroesophageal reflux, which is a
backflow of acidic stomach contents into the esophagus
• Delayed development and behavioral problems are often reported in a
children with down's syndrome
15. CAUSES OF DOWN’S SYNDROME
• The most common form of Down syndrome is known as Trisomy 21, a
condition where individuals have 47 chromosomes in each cell instead of 46.
This is caused by an error in cell division called nondisjunction, which leaves a
sperm or egg cell with an extra copy of chromosome 21 before or at
conception. Trisomy 21 accounts for 95% of Down syndrome cases, with 88%
originating from nondisjunction of the mother's egg cell.
• 5% of Down syndrome cases are due to conditions called mosaicism and
translocation. Mosaic Down syndrome results when some cells in the body
are normal while others have Trisomy 21. Robertsonian translocation occurs
when part of chromosome 21 breaks off during cell division and attaches to
another chromosome (usually chromosome 14).
16.
17.
18. HOW COMMON IS DOWN’S SYNDROME
• There are three types of Down syndrome: trisomy 21 (nondisjunction)
accounts for 95% of cases, translocation accounts for about 4% and mosaicism
accounts for about 1%.
• One in every 691 babies in the United States is born with Down syndrome
• There are more than 400,000 people living with Down syndrome in the United
States. Down syndrome occurs in people of all races and economic levels. The
incidence of births of children with Down syndrome increases with the age of
the mother. But due to higher fertility rates in younger women, 80% of
children with Down syndrome are born to women under 35 years of age.
19. DIAGNOSIS FOR DOWN’S SYNDROME
• Down syndrome is diagnosed one of two ways, either during pregnancy or
shortly after birth. The diagnosis is always based on the presence of an extra
number 21 chromosome on a karyotype
• The diagnosis of Down's syndrome is usually made soon after birth because
of some subtle differences in the baby's appearance.
• If the doctor suspects that the baby has Down syndrome, a chromosome test
called a karyotype, will be ordered. It usually takes a few days to get the
results of this blood test. It is almost always a shock when a baby is
diagnosed with Down syndrome
20. TREATMENT FOR DOWN’S SYNDROME
• Providing support and treatment for a patient with Down syndrome is
meant to improve their quality of life.
• Medical conditions associated with Down syndrome, including those
affecting the heart or the gastrointestinal system, may require evaluation
and care, sometimes requiring surgery.
• As the patient ages, the care and support needed will depend upon the
intellectual ability and physical function achievable by the individual.
21. REFERENCES FOR DOWN’S SYNDROME
Introduction of down’s syndrome
http://downsyndrome.about.com/od/downsyndrome
http://ghr.nlm.nihgov/condition/down-syndrome
Causes of down’s syndrome
http://www.medicalnewstoday.com/articles/145554.php
Figure of trisomy 21
http://www.larasig.com/node/3645
Symptoms for down’s syndrome
http://www.rayur.com/chromosomal-disorder-down_syndrome-trisomy-21.html
22. REFERENCES
How common is down’s syndrome
http://www.ndss.org/down-syndrome/down-syndrome-facts/html
Diagnosis for down’s syndrome
http://downsyndrome.about.com/od/diagnosing/down’ssyndrome/a/diagnoss
iess
Treatment for down’s syndrome
http://www.medicinenet.com/down-syndrome_overview/page3.html
23. WHAT IS KLINEFELTER’S SYNDROME
• Klinefelter syndrome, also known as XXY syndrome, is a fairly common
genetic condition found in males only. Many boys with Klinefelter syndrome
have no signs or symptoms, and some don't even know they have it until
later in life
• Klinefelter syndrome typically causes a boy's testicles to grow at a slower
rate than those of other boys. It prevents testicles from producing normal
amounts of sperm and the hormone testosterone.
• Klinefelter syndrome is named after Dr. Henry Klinefelter, who first
described a group of symptoms found in some men with the extra X
chromosome. Even though all men with Klinefelter syndrome have the
extra X chromosome, not every XXY male has all of those symptoms.
24. CAUSES OF KLINEFELTER’S SYNDROME
• Men with Klinefelter’s syndrome have an extra X
chromosome.
• Of the 23 pairs of chromosomes, one pair is called
the sex chromosomes because they determine a
person’s sex. One sex chromosome is inherited
from the mother and the other from the father.
Mothers always pass on an X chromosome, but
fathers can pass on an X or a Y chromosome.
• The normal male chromosome arrangement is
46XY, but men with Klinefelter’s syndrome have
47XXY. The extra X chromosome can come from
either parent.
25.
26. In young boys with the condition, the following
problems may occur:
• difficulties with speech and reading
• delayed motor development
• reduced attention span
• poor muscle tone
• behavioral problems.
27. HOW COMMON IS KLINEFELTER’S SYNDROME
• Between 1 in 500 and 1 in 1,000 boys
are born with Klinefelter’s syndrome
28. DIAGNOSIS OF KLINEFELTER’S SYNDROME
• Diagnosis is confirmed using a blood test called a karyotype. This test checks
the number and features of the chromosomes in a sample of cells from blood.
• A blood test is also carried out to determine levels of testosterone, luteinizing
hormone (LH) and follicle stimulating hormone (FSH).
• Luteinizing hormone stimulates the production of testosterone. In many men
with Klinefelter’s syndrome, levels of lutenizing hormone are raised, but
testosterone levels are borderline or below normal. Follicle stimulating
hormone levels are also raised, which can be a sign of damage to the sperm-producing
tubes in the testes.
29. TREATMENT OF KLINEFELTER’S SYNDROME
• Any individual suffering from klinefelter's syndrome should be referred to
ENDOCRINOLOGIST
• Main treatment for Klinefelter's syndrome is with testosterone to boost the
low levels. Testosterone can help to:
Increase your strength and build a more muscular body type.
Increase facial and pubic hair growth.
Increase your libido (sex drive).
Enlarge your testes.
• If you have Klinefelter syndrome and you are considering having children, you
will need to see an infertility specialist.
30. REFERENCES FOR KLINEFELTER’S SYNDROME
• Introduction of klinefelter’s syndrome
Http://kidshealth.org/parent/medical/endocrine/klinefelter-syndrome.html
• Causes of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• Karyotype of klinefelter’s syndrome
Http://rockyourchromosome.blogspot.in/2013/03/klinefelters-syndrome.
charachteristics.html
31. REFERENCES KLINEFELTER’S SYNDROME
• Symptoms of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• Diagnosis of klinefelter’s syndrome
Http://www.andrologyaustralia.org/reproductive-problems/klinefelters-syndrome/
html
• How common is klinefelter’s syndrome
Http://www.patient.co.uk./health/klinefelter-syndrome#
• Treatment of klinefelter’s syndrome
Http://www.patient.co.uk./health/klinefelter-syndrome#
32. FINAL CONCLUSION
• Turner’s syndrome is genetic abnormality in which out of 46 chromosomes
there are 44 autosomes and a single X chromosome (X rather than XX)
• Down’s syndrome is also know as trisomy 21 in which individual has 47
chromosomes instead of 46
• Klinefelter’s syndrome is also known as XXY syndrome normal male
chromosome arrangement is 46XY, but men with Klinefelter’s syndrome have
47XXY.