Genetic disorders
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This document discusses several types of genetic disorders including chromosomal abnormalities, changes in chromosome number or structure, uniparental disomy, chromosomal mosaicism, and mitochondrial disorders. It provides examples of specific genetic syndromes such as Down syndrome, Patau's syndrome, Edward's syndrome, Turner's syndrome, and Klinefelter's syndrome that are caused by abnormalities involving chromosome number. The document notes that genetic disorders can be caused by heredity, new mutations, or changes during formation of egg or sperm cells and can involve imbalance of genetic information.
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Genetic epidemiology, classification of Genetic Disorder, factor causing genetic abnormalities, difference between congenital and teratogenic abnormalities and prevention of genetic diseases
Hereditary diseases
There are several classes of hereditary diseases:
1) Diseases of simple genetic architecture are caused by a single gene and follow recognizable patterns of inheritance. They are usually rare.
2) Diseases of complex genetic architecture do not have clear patterns of inheritance and are influenced by multiple genes and the environment. They are more common.
3) Genetic disorders can be caused by abnormalities in chromosomes, single genes, or a combination of genetic and environmental factors. They result in conditions like cystic fibrosis, sickle cell anemia, muscular dystrophy, and Down syndrome. Changes in chromosome number, structure, or sex chromosomes can also cause genetic disorders.
Chromosomal disorder
This document discusses various chromosomal disorders including aneuploidy, autosomal anomalies, sex chromosomal anomalies, Down's syndrome, Turner's syndrome, and Klinefelter's syndrome. It provides details on the genetic causes of each disorder and their associated clinical manifestations. Detection methods like amniocentesis, maternal blood screening, and ultrasounds are also summarized.
Genetic disorder
This document discusses human genetic disorders. It begins with an introduction to genes and genetics. It then defines genetic disorders as diseases caused by abnormalities in DNA, including point mutations or changes to entire chromosomes. The document outlines the history of genetics research. It describes several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Specific genetic disorders are then discussed as examples, including galactosemia, Alzheimer's disease, sickle cell anemia, Huntington's disease, and Down syndrome. The document concludes with some references used in its preparation.
Chromosomal anomalies
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Genetic disorder & gene therapy
Genetic disorders are caused by abnormalities in DNA, including single gene mutations, chromosomal abnormalities, and interactions between genes and environment. Common genetic disorders include cystic fibrosis, sickle cell anemia, Down syndrome, Turner syndrome, and Williams syndrome. Gene therapy aims to treat genetic disorders by inserting functional genes to replace non-functional ones, but faces challenges such as immune responses, maintaining gene expression over time, and unintended effects on other genes. Future applications may include preventing inheritance of genetic diseases and customizing stem cells, but ethical issues around germline editing remain.
Chromosomal abnormalities
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
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Hereditary diseases
There are several classes of hereditary diseases:
1) Diseases of simple genetic architecture are caused by a single gene and follow recognizable patterns of inheritance. They are usually rare.
2) Diseases of complex genetic architecture do not have clear patterns of inheritance and are influenced by multiple genes and the environment. They are more common.
3) Genetic disorders can be caused by abnormalities in chromosomes, single genes, or a combination of genetic and environmental factors. They result in conditions like cystic fibrosis, sickle cell anemia, muscular dystrophy, and Down syndrome. Changes in chromosome number, structure, or sex chromosomes can also cause genetic disorders.
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This document discusses various chromosomal disorders including aneuploidy, autosomal anomalies, sex chromosomal anomalies, Down's syndrome, Turner's syndrome, and Klinefelter's syndrome. It provides details on the genetic causes of each disorder and their associated clinical manifestations. Detection methods like amniocentesis, maternal blood screening, and ultrasounds are also summarized.
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This document discusses human genetic disorders. It begins with an introduction to genes and genetics. It then defines genetic disorders as diseases caused by abnormalities in DNA, including point mutations or changes to entire chromosomes. The document outlines the history of genetics research. It describes several types of genetic disorders including single gene, multifactorial, chromosomal, and mitochondrial disorders. Specific genetic disorders are then discussed as examples, including galactosemia, Alzheimer's disease, sickle cell anemia, Huntington's disease, and Down syndrome. The document concludes with some references used in its preparation.
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Genetic disorders are caused by abnormalities in DNA, including single gene mutations, chromosomal abnormalities, and interactions between genes and environment. Common genetic disorders include cystic fibrosis, sickle cell anemia, Down syndrome, Turner syndrome, and Williams syndrome. Gene therapy aims to treat genetic disorders by inserting functional genes to replace non-functional ones, but faces challenges such as immune responses, maintaining gene expression over time, and unintended effects on other genes. Future applications may include preventing inheritance of genetic diseases and customizing stem cells, but ethical issues around germline editing remain.
Chromosomal abnormalities
This document discusses several chromosomal abnormalities including Down syndrome, Turner syndrome, Patau syndrome, and Edwards syndrome. It provides details on the characteristics, causes, diagnosis and management of each condition. Down syndrome results from trisomy 21 and is associated with developmental delays, congenital heart defects, increased risk of leukemia and thyroid disorders. Turner syndrome occurs when one X chromosome is missing and affects growth and fertility in girls. Patau and Edwards syndromes are trisomies of chromosomes 13 and 18 respectively, often causing multiple physical abnormalities and intellectual disability. Prenatal screening and testing can help identify these conditions.
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Chromosomal aberrations refer to any deviations in chromosome number or structure. There are two main types: structural aberrations which involve changes in chromosome structure, and numerical aberrations which involve changes in chromosome number. Down syndrome is a common numerical aberration that involves an extra copy of chromosome 21, leading to characteristic physical and developmental features. Its incidence increases with maternal age and it can be diagnosed prenatally through screening tests and confirmed via karyotyping. Management involves counseling, monitoring for common health issues, and early intervention services.
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This document discusses several genetic disorders including Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome, and Marfan syndrome. It defines karyotyping as the process of analyzing chromosomes, and discusses aneuploidy as having an abnormal number of chromosomes and polyploidy as having more than two sets of chromosomes. It provides details on the typical features and complications of each genetic condition. The objectives cover karyotyping, nondisjunction, distinguishing various chromosomal alterations, and structural chromosome changes involved in certain disorders.
Genetic disorders
Genetic disorders can be caused by mutations to genes or chromosomes. Gene defects affect a single gene, usually impacting one protein, while chromosomal defects impact many genes on a chromosome. Genetic disorders are inherited in autosomal dominant, autosomal recessive, or sex-linked patterns. Examples provided include cystic fibrosis (recessive), Huntington's disease (dominant), and hemophilia (sex-linked). Chromosomal defects like monosomy, trisomy, and translocations can be detected via karyotyping, which identifies abnormalities involving number or structure of chromosomes. Specific conditions discussed are Turner syndrome, Down syndrome, and Klinefelter syndrome.
Common Genetic Diseases
This document discusses several topics related to genetics and genetic diseases including:
- A list of common genetic diseases such as cystic fibrosis, sickle cell anemia, and muscular dystrophy.
- The classification of genetic diseases into chromosomal disorders, monogenic disorders, and multifunctional disorders.
- Methods for treating genetic diseases such as correcting metabolic abnormalities, replacing missing enzymes, and correcting genetic abnormalities.
- Recombinant DNA techniques like gene splicing that allow scientists to combine DNA from different organisms.
genetic disorder
This document discusses genetic disorders. It begins by defining genetic disorders as conditions caused by changes in genes or chromosomes. It then classifies genetic disorders into four main categories: single gene disorders, chromosomal abnormalities, mitochondrial disorders, and multifactorial disorders. The document goes on to describe different types of single gene disorders, including autosomal dominant disorders like Huntington's disease, autosomal recessive disorders like sickle cell anemia, and sex-linked recessive disorders like hemophilia. Specific examples and characteristics of each type of genetic disorder are provided.
Genetic Disorder
This slide is made for my university assignment.Here I describe type of genetic disorder and described haemophilia.
1. velo introduction
This document provides an introduction to genetic disorders. It defines key genetic terms like alleles, dominant and recessive alleles, and Punnett squares. It then describes the main types of genetic disorders: single-gene disorders caused by one gene, multifactorial disorders caused by multiple genes and environment, chromosomal disorders from abnormalities in chromosomes, and mitochondrial disorders from mutations in mitochondrial DNA. Examples are given for each type of genetic disorder.
GENETIC DISORDERS
This document provides an overview of genetic diseases and inheritance patterns. It discusses several types of genetic disorders including single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and mitochondrial inheritance. Specific genetic diseases are described for each category, such as cystic fibrosis, sickle cell anemia, and Alzheimer's disease. The roles of genes, chromosomes, and mitochondria in the development and transmission of genetic traits and diseases are also summarized.
Chromosomal abnormalities
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.
Genetic disorders
Common genetic disorders are very common and medical professionals should understand in brief about significant disorders.
which may enable them to achieve a better role in genetic counselling.
6.2 Human Genetic Disorders 2019
Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Genetic Disorders
A genetic disorder is a disease caused by a different form of a gene called a variation,
or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation in a gene or group of genes in a person's
cells. These mutations can occur randomly or because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family
and each generation of children can inherit the gene that causes the disease. Still other
genetic disorders are due to problems with the number of packages of genes called
chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
NIH: National Human Genome Research Institute
Genetic disorder
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Human Inheritance & Genetic Disorders
This document discusses human genetics and genetic disorders. It explains that genes located on chromosomes control human traits and can cause disorders if mutated or in an abnormal number. Some examples of genetic disorders mentioned are cystic fibrosis caused by a recessive gene mutation, sickle cell anemia caused by a codominant allele, and Down syndrome caused by an extra 21st chromosome. Pedigrees and karyotypes are tools that can be used to study genetics and identify genetic disorders in families.
Pathology cptr5-genetics
Genetic disorders can result from mutations in DNA, including single gene mutations, chromosomal abnormalities, and multifactorial inheritance. Single gene mutations can be caused by changes like deletions, insertions, repeats, and point mutations that interfere with protein synthesis. These mutations can be passed through autosomal dominant, autosomal recessive, or sex-linked inheritance patterns. Common genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and disorders caused by errors in lysosomal storage like Gaucher disease. Chromosomal abnormalities like Down syndrome, Klinefelter syndrome, and Turner syndrome result from errors in chromosome number or structure during cell division.
Biochem chromosomal disorders
Chromosomal disorders occur when there are abnormalities in chromosomes during cell division. Some examples include deletions where chromosome material is missing, duplications where material is present twice, and translocations where material is swapped between chromosomes. Specific disorders result from abnormalities involving certain chromosomes, such as Down syndrome from an extra copy of chromosome 21, Turner syndrome from missing one X chromosome, and Klinefelter syndrome with an extra X chromosome. These disorders can cause intellectual disabilities and physical abnormalities.
Presentation1.pptx, imaging of genetic diseases. (3)
This document summarizes different types of genetic diseases including their classification, inheritance patterns, and examples. It discusses disorders caused by mutations in single genes including autosomal dominant, autosomal recessive, and X-linked conditions. Specific genetic diseases are explained such as neurofibromatosis, cystic fibrosis, and lysosomal storage disorders. The document also covers disorders associated with defects in enzymes, structural proteins, receptors, and genes that regulate cell growth.
Common Genetic Disorders
This document discusses genetic disorders, which are caused by abnormalities in a person's genetic material. It defines several categories of genetic disorders, including chromosomal disorders, single gene disorders, multifactorial disorders, and mitochondrial disorders. It then provides examples and details on some common genetic disorders like Gaucher disease, Huntington's disease, hemophilia, Parkinson's disease, sickle cell anemia, cystic fibrosis, Down syndrome, Alzheimer's disease, thalassemia, and Tay-Sachs disease. The document explains the causes and symptoms of each disorder at a high level.
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This document discusses trisomy, which is a type of aneuploidy where there are three instances of a particular chromosome instead of the normal two. It describes how trisomy occurs due to errors in meiosis where chromosomes fail to separate properly. The most common types of trisomy in humans are trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Trisomy can cause birth defects, intellectual disabilities, and shortened life expectancy depending on which chromosome is involved. Rare cases of other trisomies like 8, 9, 14, 16, and 22 are also discussed.
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
Genomic Disorders
This document discusses genomic disorders caused by DNA rearrangements such as deletions, duplications, inversions, and insertions ranging from kilobases to megabases. These rearrangements are mediated by mechanisms involving non-allelic homologous recombination between low-copy repeats, also called segmental duplications. Several genomic disorders are described that result from rearrangements between specific low-copy repeats, including deletions causing Wolf-Hirschhorn syndrome, Williams-Beuren syndrome, and Prader-Willi syndrome. Diagnostic methods for detecting DNA rearrangements are also summarized, such as fluorescence in situ hybridization, pulsed-field gel electrophoresis, array comparative genomic hybridization, and multiplex ligation-
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This document discusses several genetic disorders including Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome, and Marfan syndrome. It defines karyotyping as the process of analyzing chromosomes, and discusses aneuploidy as having an abnormal number of chromosomes and polyploidy as having more than two sets of chromosomes. It provides details on the typical features and complications of each genetic condition. The objectives cover karyotyping, nondisjunction, distinguishing various chromosomal alterations, and structural chromosome changes involved in certain disorders.
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Genetic disorders can be caused by mutations to genes or chromosomes. Gene defects affect a single gene, usually impacting one protein, while chromosomal defects impact many genes on a chromosome. Genetic disorders are inherited in autosomal dominant, autosomal recessive, or sex-linked patterns. Examples provided include cystic fibrosis (recessive), Huntington's disease (dominant), and hemophilia (sex-linked). Chromosomal defects like monosomy, trisomy, and translocations can be detected via karyotyping, which identifies abnormalities involving number or structure of chromosomes. Specific conditions discussed are Turner syndrome, Down syndrome, and Klinefelter syndrome.
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This document discusses several topics related to genetics and genetic diseases including:
- A list of common genetic diseases such as cystic fibrosis, sickle cell anemia, and muscular dystrophy.
- The classification of genetic diseases into chromosomal disorders, monogenic disorders, and multifunctional disorders.
- Methods for treating genetic diseases such as correcting metabolic abnormalities, replacing missing enzymes, and correcting genetic abnormalities.
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genetic disorder
This document discusses genetic disorders. It begins by defining genetic disorders as conditions caused by changes in genes or chromosomes. It then classifies genetic disorders into four main categories: single gene disorders, chromosomal abnormalities, mitochondrial disorders, and multifactorial disorders. The document goes on to describe different types of single gene disorders, including autosomal dominant disorders like Huntington's disease, autosomal recessive disorders like sickle cell anemia, and sex-linked recessive disorders like hemophilia. Specific examples and characteristics of each type of genetic disorder are provided.
Genetic Disorder
This slide is made for my university assignment.Here I describe type of genetic disorder and described haemophilia.
1. velo introduction
This document provides an introduction to genetic disorders. It defines key genetic terms like alleles, dominant and recessive alleles, and Punnett squares. It then describes the main types of genetic disorders: single-gene disorders caused by one gene, multifactorial disorders caused by multiple genes and environment, chromosomal disorders from abnormalities in chromosomes, and mitochondrial disorders from mutations in mitochondrial DNA. Examples are given for each type of genetic disorder.
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This document provides an overview of genetic diseases and inheritance patterns. It discusses several types of genetic disorders including single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and mitochondrial inheritance. Specific genetic diseases are described for each category, such as cystic fibrosis, sickle cell anemia, and Alzheimer's disease. The roles of genes, chromosomes, and mitochondria in the development and transmission of genetic traits and diseases are also summarized.
Chromosomal abnormalities
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.
Genetic disorders
Common genetic disorders are very common and medical professionals should understand in brief about significant disorders.
which may enable them to achieve a better role in genetic counselling.
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Genetic disorders can be caused by changes in genes or chromosomes. There are two major types - those caused by mutations in DNA sequences and those caused by changes in chromosome structure or number. Some examples of genetic disorders discussed include Down syndrome, Klinefelter syndrome, Turner syndrome, sickle cell anemia, cystic fibrosis, hemophilia, muscular dystrophy, Huntington's disease, ALS, diabetes, color blindness, albinism, achondroplasia, and hairy ears syndrome. Pedigrees and karyotypes are tools used to study genetics and inheritance patterns of traits and disorders.
Genetic Disorders
A genetic disorder is a disease caused by a different form of a gene called a variation,
or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some,
including many cancers, are caused by a mutation in a gene or group of genes in a person's
cells. These mutations can occur randomly or because of an environmental exposure such as
cigarette smoke.
Other genetic disorders are inherited. A mutated gene is passed down through a family
and each generation of children can inherit the gene that causes the disease. Still other
genetic disorders are due to problems with the number of packages of genes called
chromosomes. In Down syndrome, for example, there is an extra copy of chromosome 21.
If you know that you have a genetic problem in your family, you can have genetic testing to see if your baby could be affected.
NIH: National Human Genome Research Institute
Genetic disorder
This presentation is based on genetic disorders. It is a vast topic and I have tried to focus on autosomal disorders along with a general introduction.
Human Inheritance & Genetic Disorders
This document discusses human genetics and genetic disorders. It explains that genes located on chromosomes control human traits and can cause disorders if mutated or in an abnormal number. Some examples of genetic disorders mentioned are cystic fibrosis caused by a recessive gene mutation, sickle cell anemia caused by a codominant allele, and Down syndrome caused by an extra 21st chromosome. Pedigrees and karyotypes are tools that can be used to study genetics and identify genetic disorders in families.
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Genetic disorders can result from mutations in DNA, including single gene mutations, chromosomal abnormalities, and multifactorial inheritance. Single gene mutations can be caused by changes like deletions, insertions, repeats, and point mutations that interfere with protein synthesis. These mutations can be passed through autosomal dominant, autosomal recessive, or sex-linked inheritance patterns. Common genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and disorders caused by errors in lysosomal storage like Gaucher disease. Chromosomal abnormalities like Down syndrome, Klinefelter syndrome, and Turner syndrome result from errors in chromosome number or structure during cell division.
Biochem chromosomal disorders
Chromosomal disorders occur when there are abnormalities in chromosomes during cell division. Some examples include deletions where chromosome material is missing, duplications where material is present twice, and translocations where material is swapped between chromosomes. Specific disorders result from abnormalities involving certain chromosomes, such as Down syndrome from an extra copy of chromosome 21, Turner syndrome from missing one X chromosome, and Klinefelter syndrome with an extra X chromosome. These disorders can cause intellectual disabilities and physical abnormalities.
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This document summarizes different types of genetic diseases including their classification, inheritance patterns, and examples. It discusses disorders caused by mutations in single genes including autosomal dominant, autosomal recessive, and X-linked conditions. Specific genetic diseases are explained such as neurofibromatosis, cystic fibrosis, and lysosomal storage disorders. The document also covers disorders associated with defects in enzymes, structural proteins, receptors, and genes that regulate cell growth.
Common Genetic Disorders
This document discusses genetic disorders, which are caused by abnormalities in a person's genetic material. It defines several categories of genetic disorders, including chromosomal disorders, single gene disorders, multifactorial disorders, and mitochondrial disorders. It then provides examples and details on some common genetic disorders like Gaucher disease, Huntington's disease, hemophilia, Parkinson's disease, sickle cell anemia, cystic fibrosis, Down syndrome, Alzheimer's disease, thalassemia, and Tay-Sachs disease. The document explains the causes and symptoms of each disorder at a high level.
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This document discusses trisomy, which is a type of aneuploidy where there are three instances of a particular chromosome instead of the normal two. It describes how trisomy occurs due to errors in meiosis where chromosomes fail to separate properly. The most common types of trisomy in humans are trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Trisomy can cause birth defects, intellectual disabilities, and shortened life expectancy depending on which chromosome is involved. Rare cases of other trisomies like 8, 9, 14, 16, and 22 are also discussed.
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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This document discusses Jack, a newly enrolled child with Down syndrome who appears prosocial but talks less and sometimes becomes aggressive. It provides information about Down syndrome, including that it is a genetic disorder caused by an extra chromosome and causes delays in physical and cognitive development. The document outlines teaching strategies to help Jack, such as focusing on vocabulary, breaking lessons into chunks, and ensuring a congenial environment. It also provides resources for support services in Toronto for children with Down syndrome and their families.
Down's Syndrome
Down's Syndrome, also known as trisomy 21, is a genetic condition where a person has 47 chromosomes instead of the usual 46, causing mental retardation and other problems ranging from mild to serious. Common physical signs include a flattened nose, small ears and mouth, upward slanting eyes, and short hands and fingers. Risk factors include increased maternal age and parents being carriers of the translocation. While there is no cure, early intervention and treatment of complications like heart defects can help development.
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A baby was born to an epileptic mother who had taken phenytoin until 10 weeks of pregnancy. The baby exhibited multiple congenital anomalies including a short neck, slanted eyes, depressed nasal bridge, and nail and digit hypoplasia. Based on the maternal history and features of the newborn, the baby was diagnosed with fetal hydantoin syndrome. Fetal hydantoin syndrome is characterized by a pattern of abnormalities caused by exposure to hydantoin anti-epileptic drugs in utero. The case report discusses the potential teratogenic effects of hydantoin and importance of counseling women of reproductive age taking anti-epileptics.
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Inherited disorders
This document discusses various inherited and genetic disorders. It defines inherited disorders as diseases caused by abnormalities in DNA, including small mutations or changes in chromosome number. The document then covers several specific disorders:
- Allosomal disorders, related to sex chromosomes like Kleinfelter's syndrome (XXY) and Turner's syndrome (monosomy X).
- Autosomal disorders including Down syndrome (trisomy 21), hemophilia (X-linked bleeding disorder), and sickle cell anemia (mutation in hemoglobin gene).
- Other examples provided are color blindness (X-linked), albinism (tyrosinase enzyme defect), and hairy ears (rare Y-linked trait).
Down syndrome awareness
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is characterized by cognitive delays, slower physical development, and distinctive facial features. Individuals with Down syndrome often have health issues such as heart defects, hearing or vision problems, thyroid issues, and an increased risk of Alzheimer's disease. Their development follows a specific pattern, with relative strengths in social skills but delays in motor skills, language, and short-term verbal memory. Early intervention and education can help maximize their learning potential over their lifetime.
Autosomal Aberrations
The document discusses several autosomal aberrations including deletions, duplications, and trisomies of different chromosomes that result in genetic disorders. It describes the signs and symptoms of several conditions including Wolf-Hirschhorn Syndrome caused by a deletion on chromosome 4, Cri du Chat caused by a deletion on chromosome 5, and Down Syndrome caused by trisomy of chromosome 21. It also provides details on the characteristic physical features of each condition.
Edward syndrome
Edward syndrome, also known as Trisomy 18, is a chromosomal condition caused by the presence of an extra copy of chromosome 18. It is associated with abnormalities in many parts of the body and was first described by John H. Edwards in 1960. Affected individuals often have physical characteristics like low birth weight, small head size, malformed ears and heart defects. Treatment focuses on palliative care as the condition is often fatal, with the majority of children passing away within their first year. Those who survive longer experience severe developmental delays.
Trisomy21
Down syndrome is caused by trisomy 21, occurring in approximately 1 in 1000 live births. It results from errors in cell division during meiosis. Clinically, it is characterized by facial features like an upward slant of the eyes, a flat facial profile, and intellectual disability. Complications can include heart defects, hearing or vision problems, gastrointestinal issues, and other conditions. Management involves monitoring for associated medical issues and providing therapies to support development. The lifespan for individuals with Down syndrome has increased in recent decades due to improved medical care.
Karyotyping
Karyotyping involves analyzing chromosomes to identify abnormalities. There are various banding techniques that stain chromosomes differently based on DNA composition, allowing identification. G-banding is commonly used, staining regions rich in adenine and thymine dark and regions rich in guanine and cytosine light. This reveals unique banding patterns for each chromosome. Fluorescent in situ hybridization (FISH) uses fluorescent probes to target specific DNA sequences, allowing analysis at the gene level.
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The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
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Down syndrome ppt for UGs
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.
Ppt on karyotyping, chromosome banding and chromosome painting.
This document provides an overview of karyotyping, chromosome banding, and chromosome painting techniques. It discusses how karyotyping involves arranging chromosomes based on size and centromere position. Different banding techniques like Q, G, N, and C banding stain chromosomes to reveal structural features. Chromosome painting uses fluorescent probes to identify chromosomes and chromosomal abnormalities. These techniques allow studying chromosome structure, identifying defects, and analyzing evolutionary changes.
Karyotypes and Karyotyping
The karyotype shows a deletion of the long arm of chromosome 5 and an extra copy of chromosome 9. Deletions and extra copies of chromosomes are common abnormalities in chronic lymphocytic leukemia (CLL) that help determine prognosis. Deletion of the long arm of chromosome 5 is seen in a subset of CLL patients and is associated with poor prognosis.
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This document discusses heredity, prenatal development, and birth from an evolutionary and genetic perspective. It covers key topics such as genes and chromosomes, mitosis and meiosis, dominant and recessive traits, genetic disorders, chromosomal abnormalities, twins, genetic counseling, and the three periods of prenatal development (germinal, embryonic, fetal). The germinal period involves fertilization and the early cell divisions leading to a blastocyst.
Genes, Chromosomes and Genetic Code: Relevance and Implications
The document discusses genetic disorders including chromosomal abnormalities, single gene disorders, and multifactorial disorders. It describes how chromosomal abnormalities can involve extra or missing chromosomes and structural changes. Single gene disorders can be inherited in autosomal dominant, autosomal recessive, X-linked, Y-linked, or mitochondrial patterns. Multifactorial disorders involve multiple genes and environmental factors. The document also discusses genetic testing and prevention of some birth defects.
embryology.pptx
This document provides information on embryology and gametogenesis. It defines key terms like oocyte, zygote, morula, blastocyst and discusses early embryonic development from fertilization through implantation and formation of the germ layers. It also describes meiosis and gamete formation, comparing oocytes and sperm. Additionally, it covers cell signaling pathways important for development and lists some common chromosomal abnormalities in humans.
Malformations
The document discusses congenital malformations, including:
- Types of congenital anomalies like major anomalies that interfere with normal functioning and minor anomalies that have only cosmetic significance.
- Causes of congenital anomalies which can be genetic like chromosomal or single gene defects, or non-genetic like drugs, infections, or maternal illness.
- Stages of normal morphogenesis and how abnormalities can occur if stages are incomplete, take an aberrant form, or functional defects develop. Timing of different malformations is outlined.
- Specific genetic syndromes are mentioned as causes for different malformation patterns. Deletion 22q11 syndrome is discussed in detail as a common microdeletion syndrome.
Genes, Chromosomes, and Genetic Code: Relevance and Implications
Genes are the thing that determines your unique traits from the inside out. They play an important role in your overall health but they can also make you more susceptible for certain health problems and diseases, in the first place those that run in your family. Most diseases are a result of a combination of multiple factors including dietary, lifestyle and environmental factors. However, it is also possible to develop health problems exclusively due to genetic abnormalities and mutations.
Genetic Disorders.ppt
This ppt describes about patterns of inheritance, classification of genetic disorders, genetic testing, and few disorders like down syndrome
HGD -Pillai aswathy viswanath
- Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This enzyme is important for purine metabolism.
- Symptoms include severe gout due to high uric acid levels, self-injurious behavior such as biting and head-banging, and intellectual disability.
- It is inherited in an X-linked recessive pattern, affecting almost exclusively males. Carriers (females) are usually unaffected.
Genetic disorder
This document discusses the inheritance of common pediatric genetic disorders. It describes five types of genetic disorders: chromosomal disorders, single gene disorders, polygenic disorders, mitochondrial disorders, and somatic cell disorders. Two specific chromosomal disorders are discussed in detail: Down syndrome and Turner syndrome. Down syndrome is caused by trisomy 21 and is characterized by physical and mental retardation. Turner syndrome is caused by a missing or structurally abnormal X chromosome in females and can cause short stature and infertility. Both require lifelong medical care and treatment of associated health issues.
Birth defect 2014
1. The document describes fetal development from pre-embryonic to embryonic stages, covering organogenesis and development of major organs from 4-12 weeks.
2. It then covers types of birth defects such as malformations, disruptions, deformations, and dysplasias which can be caused by genetic or environmental factors such as infections, drugs, or radiation exposure during pregnancy.
3. The major causes of birth defects are described as genetic factors in 40-60% of cases, maternal illnesses and infections in 20-25% of cases, and multifactorial and unknown causes in 12-25% and 10-13% of cases respectively.
chapter 3
This document provides an overview of genetics and heredity. It discusses DNA and chromosomes, how genes determine traits (phenotype) from our genetic code (genotype), how a single cell develops into a full organism through cell differentiation and gene interactions, and different patterns of inheritance such as dominant/recessive genes. It also covers genetic abnormalities like Down syndrome and how nature and nurture both influence traits and conditions over one's lifetime. Genetic counseling and testing are discussed as ways to learn about genetic risks but also have uncertainties.
Sex aberrations
This document discusses various chromosomal abnormalities and genetic syndromes. It notes that 50% of spontaneous abortions are due to chromosomal abnormalities such as triploidy, Turner syndrome, and trisomy 16. It then describes several specific genetic syndromes including Klinefelter syndrome, Turner syndrome, Jacob's syndrome, triple X syndrome, and deletions or deficiencies of chromosomes 5, 15, and 22 associated with conditions like Cri-du-chat syndrome and Prader-Willi syndrome. The document concludes by discussing the goals of the Human Genome Project to better understand genetic variations and promote inclusion of those with differences.
Genome mosaicism
This presentation is fetures the basic introduction to Genome mosaicism in humans and nature, with some examples of its harmful effects on humans, with
Lifespan psychology lecture chapter 1, module 1.2
The document discusses the stages of human development from fertilization through birth. It describes how a zygote is formed through the joining of an egg and sperm, and the early embryonic development of major organs over the first 8 weeks. The fetal stage from 8 weeks until birth is a period of rapid growth and differentiation, with the fetus increasing 20 times in length and developing functioning organs. The document also notes some potential problems in pregnancy like infertility, miscarriage, abortion, and threats to development from environmental factors and a mother's health behaviors during pregnancy.
Minarcik robbins 2013_ch10-child
This document discusses diseases of infancy and childhood. It begins by listing common congenital anomalies and conditions affecting infants, such as prematurity and low birth weight. It then covers major time spans in infant development. Mortality rates are provided for different age groups. Causes of death vary according to age. Congenital anomalies and their causes, including genetic, environmental, and multifactorial factors, are then examined in more detail. Specific maternal conditions that can cause anomalies, such as diabetes, infections, and drug use, are outlined. Prematurity, fetal growth restriction, and organ immaturity are also addressed.
PPZ301 LESSON 1.4
This document provides information about genetics and genetic disorders. It defines key genetic concepts like genes, chromosomes, DNA, heredity, and genetic disorders. It then gives examples of several common genetic disorders: cystic fibrosis, sickle cell anemia, hemophilia, muscular dystrophy, Huntington's disease, and Down syndrome. For each disorder it briefly explains the genetic cause, common symptoms, and impact on those affected. The document aims to educate about basic genetics and examples of genetic conditions.
Diseases and abnormalities caused by mutation.pptx
This document discusses several genetic disorders and abnormalities that can be caused by mutations or chromosome abnormalities:
1. Sickle cell anemia results from a single point mutation in the hemoglobin gene and causes red blood cells to take on a sickle shape, clogging blood vessels.
2. Cystic fibrosis is caused by a mutation affecting mucus and sweat glands, causing thick mucus buildup that can damage organs like the lungs.
3. Down syndrome, Klinefelter syndrome, Turner syndrome, and Patau's syndrome involve extra or missing chromosomes, leading to developmental delays and physical abnormalities.
4. Other disorders discussed include Tay-Sachs disease, hemophilia,
Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docx
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets.
Chapter 3 The New GeneticsAlma Villanueva, MACalifornia S.docx
Chapter 3:
The New Genetics
Alma Villanueva, MA
California State University, Los Angeles
Overview
Genetic Code
The Beginning of Life
Male & Female
Twins
Genotype & Phenotype
Disorders
Genetic Counseling
Genetic Code
Cells
Basic unit of life
Trillions!
Nucleus
Chromosomes
Thread– like structures made up of DNA & protein
23 pairs
DNA (Deoxyribonucleic acid)
2 strands twisted in a double helix
Chemical composition of molecules that contain the genes
Contains all of the information required to build/maintain the cell
3
Genes
Small section of the chromosome
18,000 – 23,000 genes
Each gene provides a unique recipe to make a protein
4 bases
Code for your traits
A - adenine
T - thymine
C - cytosine
G – guanine
Only 4 possible pairs
A-T; T-A; C-G; G-C
http://mybrainnotes.com/brain-dna-behavior.html
4
Allele
A variation of a gene
Example: the gene for eye color has several variations (alleles); an allele for blue eye color or an allele for brown eyes
Everyone inherits alleles from sperm & ovum
Genetic diversity
Distinguishes each person
Allows the human species to adapt to pressures of the environment
Genome
Full set of genes with instructions to make a living organism
Genomes exist for each species
Video about Genes
5
The Beginning of Life
Two Parents, Millions of Gametes
Gamete
Reproductive cell
Sperm or Ovum
Each contains 23 pairs
Zygote
Cell formed with union of Sperm & Ovum
Produce a new individual with 23 chromosomes from each parent
Conception
http://predictingbabygender.info/tag/intercourse-timing/
Matching genes
Genotype
Organism’s entire genetic inheritance, or genetic potential.
Homozygous (same zygote)
Two genes of one pair that are exactly the same in every letter of their code
Heterozygous
Two genes of one pair that differ in some way
Usually not an issue
Male of Female?
Humans usually possess
46 chromosomes
44 autosomes and 2 sex chromosomes
SEX chromosome = 23rd pair
Female – XX
Male – XY
Mother’s contain X
Father’s may have X or Y
X chrom. Is larger & more genes
Y contain SRY,
making male hormones & organs
It's a girl!
Uncertain Sex
“ambiguous genitals,” = child's sex is not abundantly clear
a quick analysis of the chromosomes is needed, to make sure there are exactly 46 and to see whether the 23rd pair is XY or XX
shown here a baby boy (left) and girl (right).
Too Many Boys?
Is sex selection the parents’ right or a social wrong?
Preference for boys in many areas of world
Ways to prevent female birth
Inactivating X sperm before conception
In vitro fertilization (IVF)
Aborting XX fetuses
My Strength, My Daughter
slogan these girls in New Delhi are shouting at a demonstration against abortion of female fetuses in India
The current sex ratio of children in India suggests that this campaign has not convinced every couple.
New Cells
Within hours of conception
23 pairs of chromosomes carrying all the genes duplicate, forming two complete sets of the genome
Two sets ...
genomectics.pptx
This document discusses different types of genetic disorders including single gene disorders, chromosomal disorders, and multifactorial disorders. It focuses on single gene disorders which can be autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders do not usually affect the parents but there is a 25% chance of siblings being affected. Examples of autosomal recessive disorders provided are sickle cell disease, cystic fibrosis, and Tay-Sachs disease. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
genex.pptx
Genetic disorders can be caused by abnormalities in a single gene (single gene disorders), chromosomes (chromosomal disorders), or multiple factors (multifactorial disorders). Single gene disorders follow patterns of inheritance such as autosomal dominant, autosomal recessive, or X-linked. Autosomal dominant disorders affect both males and females and there is a 50% chance of passing the disorder to offspring. Autosomal recessive disorders occur when both alleles are mutated and siblings have a 25% chance of being affected. Examples of autosomal recessive disorders include sickle cell disease and cystic fibrosis. X-linked disorders mainly affect males and are more likely to be passed from mother to children than father to children.
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Genes, Chromosomes and Genetic Code: Relevance and Implications
Genes, Chromosomes and Genetic Code: Relevance and Implications
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Diseases and abnormalities caused by mutation.pptx
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- 2. Congenital disorders caused by one or more abnormalities in the genome Important cause of MR Higher frequencies among spontaneous abortions and stillbirths abN. Of chromosomes and numbers
- 3. Causes Due to imbalance of genetic information Heredity (altered chromosome is passed from parent to child ) New mutations or changes of the DNA The abnormality happens when either the sperm or egg (germ cells) is created Soon after conception.
- 4. Changes in number of chromosomes Most people have 23 pairs of chromosomes, or 46 chromosomes in all. When the egg or sperm is made, the pairs split so that each egg or germ cell only contains 23 chromosomes. . Changes in chromosome structure Sometimes the information contained in a chromosome breaks up and the pieces reform in a different pattern. For example, a fragment of chromosome may break off and be lost during the formation of either the egg or sperm cell. A section of chromosome might also break away and ‘stick’ to another chromosome. Uniparental disomy Uniparental disomy means the child inherited a particular gene pair (both copies of the gene) from one parent only. This can cause a disorder if it is necessary for the child to have inherited one such gene from each parent.
- 5. Chromosomal mosaicism Normally every cell in the body contains the same genetic information – all 46 chromosomes, designated as 46XX (female) or 46XY (male). A person who has chromosomal mosaicism has different numbers of chromosomes in different cells; for example, 46 in some cells and 47 in others. Mitochondrial disorders Mitochondria are like little batteries that make energy within each cell. The energy source is a chemical called adenosine triphosphate (ATP). Organs like the brain, heart and liver can’t survive without ATP. Multifactorial disorders Multifactorial (involving several factors) disorders, such as many common birth defects or diseases like high blood pressure, are disorders caused by the environment interacting with the action of several genes. (This is also sometimes called polygenic inheritance.) For example, the birth defect spina bifida is caused by the action of several genes and also depends on the amount of folate in the mother’s diet during pregnancy (the environment). High blood pressure is influenced by a large number of genes, but also is influenced by a person's diet and salt intake.
- 6. Patau’s Syndrome (Trisomy 13) • • • • • • • • • • • • Epidemiology: Cleft lip often midline flexed fingers with polydactyly ocular hypertelorism bulbous nose low-set malformed ears small abnormal skull cerebral malformation, especially holoprosencephaly Micropthalmia cardiac malformations scalp defects hypoplastic or absent ribs visceral and genital anomalies 1/10,000 at risk with pregnancy of 31 years and above
- 7. Edward’s Syndrome (Trisomy 18) Many affected infants do not survive before birth Apnea: may cause death Med lifespan: 5-15 days ab • Low birth weight • closed fist with index finger overlapping the third digit and the fifth digit overlapping the fourth • narrow hips with limited abduction • short sternum • rocker-bottom feet • Microcephaly • prominent occiput • Micrognathia • cardiac and renal malformations • MR
- 8. Down Syndrome (Trisomy 21) • • • • • • Hypotonia • flat face; upward and slanted palpebral fissures and epicanthic folds • speckled irises (Brushfield Spots) • varying decrease of mental and growth retardation • dysplasia of the pelvis • cardiac malformations and simian creases • short, broad hands • hypoplasia of the middle phalanx of 5th finger • intestinal atresia • high arched palate Lifespan: up to 50y/o (only trisomy compatible with life MC IQ: 30-50 Usually from mother’s egg (at risk with pregnancy of 35 years and above)
- 9. Mosaicism (Trisomy 8) Long face high prominent forehead wide upturned nose thick everted lower lip Microretrognathia low-set ears high arched, sometimes cleft palate • Osteoarticular anomalies are common, moderate MR • • • • • • •
- 10. Mosaicism Term used to describe an individual who has two different cell lines derived from a single zygote a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including: Blood cells Egg and sperm cells (gametes) Skin cells caused by an error in cell division very early in the development of the unborn baby Less severe
- 11. Kllinefelter’s Syndrome Extra ‘x’ chromosome Affects 1-2/1,000 males Males are affected Mentally disadvantage, sterile male with underdeveloped testes, broader hips, scant body hair, and enlarged breasts
- 12. Turner’s Syndrome One of the MC monosmies Loss of part or all of one of the sex chromosomes 1 /4000 liveborn females or 1/8000 5-10% have some Y chromosome material in all or some cells Short stature Underdeveloped gonads Virtually no ovaries Reproductive sterility Web neck Underdeveloped breasts and widely spaced nipples N intelligence
- 14. Chromosomal Deletion 4p- Wolf-Hirschhorn syndrome 5p- Cri-du-chat Syndrome 9p 13p 18p 21p-
- 15. Chromosomal Deletions 7p11.23 8q24.1 11p13 15q11-13 15q11-13(mat) 16p13-17p11.2 17p13.3 20p12 22q11.2 Williams Langer-Giedion or trichorhino-phalangeal, type II WAGR Prader- Willi Angelman Rubinstein Taybi SmithMagenis Miller-Dieker Alagille syndrome Velocardiofacial-DiGeorge syndrome