Abortus chromosom
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This document discusses chromosomal abnormalities, including both numerical abnormalities like aneuploidy where there is an extra or missing chromosome, as well as structural abnormalities. It notes that chromosomal abnormalities are found in 60% of early miscarriages, with the most common being trisomy, where there is an extra chromosome, occurring in 30% of cases. These chromosomal abnormalities can result in preimplantation or implantation losses.
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Conditions: Chromosome number anomalies
This document discusses numerical chromosome abnormalities including conditions caused by extra or missing chromosomes. It provides examples of several conditions: Down syndrome which is usually caused by trisomy 21; Edwards syndrome and Patau syndrome which are usually fatal trisomies 18 and 13, respectively; Klinefelter syndrome which is 47,XXY; and Turner syndrome which is 45,X. It notes the incidence and characteristics of each condition and explains that numerical chromosome abnormalities are commonly caused by errors in cell division called non-disjunction that can occur during formation of egg or sperm cells.
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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 summarizes common chromosomal abnormalities caused by errors in meiosis, including nondisjunction resulting in an incorrect number of chromosomes and structural changes like deletions, duplications, inversions, and translocations. Nondisjunction can lead to conditions like Down syndrome (trisomy 21) where a baby has an extra copy of chromosome 21. Other sex chromosome disorders are also described, such as Klinefelter syndrome (XXY), Turner syndrome (XO), and Jacobs syndrome (XYY). The document stresses that while many chromosomal abnormalities are not viable, certain conditions caused by small imbalances are survivable, though characteristic syndromes result.
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repro chromosome anomalies
This document discusses various genetic disorders and conditions, including both numerical and structural chromosomal disorders. It provides classifications of genetic disorders, descriptions of specific disorders like Down syndrome, Edward syndrome, and Patau syndrome. Details are given on karyotypes, cytogenetics, causes and characteristics of different chromosomal abnormalities.
Chromosomal Genetics
Cytogenetics is the study of chromosomes and chromosome abnormalities in relation to heredity and disease. It involves analyzing chromosomes through karyotyping and molecular cytogenetics techniques. Chromosome banding patterns allow chromosomes to be identified. Non-disjunction during meiosis can result in aneuploidies like Down syndrome. Advanced maternal age is a risk factor for non-disjunction. Both numerical and structural chromosome abnormalities can occur.
Cytogenetics 1
This document provides an overview of cytogenetics and chromosomal abnormalities. It begins with the history of cytogenetics, including the discovery of human chromosomes in 1882 and establishing the normal human karyotype of 46 chromosomes in 1956. It describes laboratory techniques for culturing and staining chromosomes, including various banding techniques. It discusses clinical cytogenetics and genetic counseling. It provides detailed explanations and examples of different types of numerical and structural chromosomal abnormalities, including aneuploidies, polyploidies, translocations, inversions, deletions and more. It explains the associated phenotypes and inheritance patterns of many common chromosomal syndromes.
ABERRATIONS.ppt
Chromosomal aberrations can include aneuploidy, where there are extra or missing chromosomes, or structural changes like deletions, duplications, inversions, or translocations of chromosomal segments. Common human aneuploidies include Trisomy 21 which causes Down Syndrome, Trisomy 18 which causes Edwards Syndrome, and Trisomy 13 which causes Patau Syndrome. Monosomy X causes Turner Syndrome in females. Klinefelter Syndrome is caused by an extra X chromosome in males. These chromosomal conditions often involve multiple organ system defects and developmental or intellectual disabilities.
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Conditions: Chromosome number anomalies
This document discusses numerical chromosome abnormalities including conditions caused by extra or missing chromosomes. It provides examples of several conditions: Down syndrome which is usually caused by trisomy 21; Edwards syndrome and Patau syndrome which are usually fatal trisomies 18 and 13, respectively; Klinefelter syndrome which is 47,XXY; and Turner syndrome which is 45,X. It notes the incidence and characteristics of each condition and explains that numerical chromosome abnormalities are commonly caused by errors in cell division called non-disjunction that can occur during formation of egg or sperm cells.
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 summarizes common chromosomal abnormalities caused by errors in meiosis, including nondisjunction resulting in an incorrect number of chromosomes and structural changes like deletions, duplications, inversions, and translocations. Nondisjunction can lead to conditions like Down syndrome (trisomy 21) where a baby has an extra copy of chromosome 21. Other sex chromosome disorders are also described, such as Klinefelter syndrome (XXY), Turner syndrome (XO), and Jacobs syndrome (XYY). The document stresses that while many chromosomal abnormalities are not viable, certain conditions caused by small imbalances are survivable, though characteristic syndromes result.
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The document discusses various types of DNA damage including deamination, depurination, UV light-induced T-T and T-C dimers, alkylation, oxidative damage, replication errors, and double-strand breaks. It then summarizes different DNA repair pathways such as base excision repair, nucleotide excision repair, mismatch repair, direct repair, recombination repair, and non-homologous end-joining. The SOS response in bacteria is also summarized as activating error-prone repair when normal repair pathways are overwhelmed.
repro chromosome anomalies
This document discusses various genetic disorders and conditions, including both numerical and structural chromosomal disorders. It provides classifications of genetic disorders, descriptions of specific disorders like Down syndrome, Edward syndrome, and Patau syndrome. Details are given on karyotypes, cytogenetics, causes and characteristics of different chromosomal abnormalities.
Chromosomal Genetics
Cytogenetics is the study of chromosomes and chromosome abnormalities in relation to heredity and disease. It involves analyzing chromosomes through karyotyping and molecular cytogenetics techniques. Chromosome banding patterns allow chromosomes to be identified. Non-disjunction during meiosis can result in aneuploidies like Down syndrome. Advanced maternal age is a risk factor for non-disjunction. Both numerical and structural chromosome abnormalities can occur.
Cytogenetics 1
This document provides an overview of cytogenetics and chromosomal abnormalities. It begins with the history of cytogenetics, including the discovery of human chromosomes in 1882 and establishing the normal human karyotype of 46 chromosomes in 1956. It describes laboratory techniques for culturing and staining chromosomes, including various banding techniques. It discusses clinical cytogenetics and genetic counseling. It provides detailed explanations and examples of different types of numerical and structural chromosomal abnormalities, including aneuploidies, polyploidies, translocations, inversions, deletions and more. It explains the associated phenotypes and inheritance patterns of many common chromosomal syndromes.
ABERRATIONS.ppt
Chromosomal aberrations can include aneuploidy, where there are extra or missing chromosomes, or structural changes like deletions, duplications, inversions, or translocations of chromosomal segments. Common human aneuploidies include Trisomy 21 which causes Down Syndrome, Trisomy 18 which causes Edwards Syndrome, and Trisomy 13 which causes Patau Syndrome. Monosomy X causes Turner Syndrome in females. Klinefelter Syndrome is caused by an extra X chromosome in males. These chromosomal conditions often involve multiple organ system defects and developmental or intellectual disabilities.
Lesson 4 chromosomal anomalies
Chromosomal abnormalities can occur when there is a change in either the number or structure of chromosomes. Numerical abnormalities involve having an extra or missing chromosome, such as Down syndrome which results from an extra copy of chromosome 21. Structural abnormalities alter the chromosome's structure through deletions, duplications, translocations, or inversions of genetic material. Not all chromosomal changes are compatible with life, and those that are often cause signs and symptoms collectively called a syndrome. Karyotyping and amniocentesis can be used to analyze a fetus's chromosomes and diagnose any abnormalities.
Cromosomal number variation
The document discusses chromosomal variations including euploidy, polyploidy, aneuploidy, and several specific aneuploid syndromes in humans caused by an extra or missing chromosome. It describes common aneuploid syndromes like Trisomy 13, 18, 21, Turner Syndrome, Klinefelter Syndrome, and XYY Syndrome that result from an additional chromosome and the phenotypes associated with each one including developmental delays, physical abnormalities, and health risks. It notes that chromosomal variations involving changes in chromosome number can lead to distinct syndrome characteristics.
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The document provides information about chromosomal aberrations including definitions of key terms like chromosomes, chromatids, centromere, karyotype, autosomes, and sex chromosomes. It then describes different types of chromosomal abnormalities including structural abnormalities like deletions, duplications, inversions, translocations, and numerical abnormalities involving aneuploidy and polyploidy. Specific chromosomal disorders are summarized, such as Down syndrome, Klinefelter syndrome, Turner syndrome, and others resulting from aneuploidy. The roles of non-disjunction and translocations in conditions like Down syndrome are explained. Overall features and implications of various chromosomal aberrations are concisely outlined.
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This document discusses chromosomal aberrations, which are abnormalities in human chromosomes that can cause genetic disorders and developmental issues. It defines two main types: numerical aberrations such as aneuploidy where the wrong number of chromosomes are present, and structural aberrations like deletions, duplications, inversions, and translocations that change the structure of chromosomes. Some specific chromosomal disorders are described like Cri-du-chat syndrome caused by deletions on chromosome 5. The causes of aberrations include radiation, spontaneous DNA breaks, and chemicals. Methods to detect aberrations include cytogenetic testing and karyotyping. Clinical effects can include birth defects, intellectual disabilities, growth issues, and some cancers.
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This document contains information about chromosomes and chromosomal anomalies. It includes descriptions of chromosome structure, classification of chromosomal anomalies, examples of specific anomalies like Down syndrome, and analysis of chromosomal findings in early miscarriages. The document contains slides that cover topics such as the anatomical structure of chromosomes, different types of chromosomal anomalies, karyotypes, and chromosomal anomalies that are frequently observed in live births and early miscarriages.
Numerical chnges.ppt
This document discusses numerical variations and abnormalities in chromosomes. It begins by defining key terms like ploidy, euploidy, aneuploidy, and polyploidy. It then discusses specific examples of numerical variations including monoploidy, euploidy, and different levels of polyploidy. The document also summarizes types of aneuploidy like trisomies and monosomies. It provides details on specific trisomy disorders like Down syndrome, Patau syndrome, and Edwards syndrome. The document concludes by discussing other numerical abnormalities and sex chromosome disorders like Kleinfelter syndrome, Turner syndrome, and examples of nondisjunction.
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Chromosomal abnormalities occur when there are problems with chromosomes, such as an extra or missing chromosome. Some common chromosomal abnormalities include Down syndrome, which results from an extra copy of chromosome 21, and Klinefelter syndrome in males, which involves an extra X chromosome. Chromosomal abnormalities can be caused by genetic factors in the parents, occur spontaneously during reproduction, or be related to advanced maternal age. They often result in developmental delays or other health issues.
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Chromosomal abnormalities can be caused by numerical or structural changes to chromosomes. Numerical abnormalities include aneuploidy, where there is an extra or missing chromosome, and polyploidy, where there are multiple sets of chromosomes. They can occur through meiotic or mitotic nondisjunction. Specific aneuploid syndromes include Down syndrome, Klinefelter syndrome, and Turner syndrome. Structural abnormalities involve changes in chromosome structure like translocations, deletions, or duplications. Specific syndromes caused by structural abnormalities include Cri-du-chat syndrome and Fragile X syndrome. Both numerical and structural chromosomal abnormalities can cause birth defects, miscarriages, and genetic disorders.
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Chromosomal abnormalities can occur when there is a change in either the number or structure of chromosomes. Numerical abnormalities involve having an extra or missing chromosome, such as Down syndrome which results from an extra copy of chromosome 21. Structural abnormalities alter the chromosome's structure through deletions, duplications, translocations, or inversions of genetic material. Not all chromosomal changes are compatible with life, and those that are often cause signs and symptoms collectively called a syndrome. Karyotyping and amniocentesis can be used to analyze a fetus's chromosomes and diagnose any abnormalities.
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Discover the benefits of homeopathic medicine for irregular periods with our guide on 5 common remedies. Learn how these natural treatments can help regulate menstrual cycles and improve overall menstrual health.
Visit Us: https://drdeepikashomeopathy.com/service/irregular-periods-treatment/
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Summer is a time for fun in the sun, but the heat and humidity can also wreak havoc on your skin. From itchy rashes to unwanted pigmentation, several skin conditions become more prevalent during these warmer months.
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Abortus chromosom
- 1. Abortus Chromosomal Abnormalities Denny Suwanto
- 2. Chromosome Abnormalities • Numerical – Euploid---multiple of haploid number (N) – Aneuploid---trisomy or monosomy • Structural Milward,K. 2001. Genetics Disease
- 4. Chromosome Numeric Anomalies Aneuplody Trisomy 21
- 5. Euplody • 69,XXX • Dyandric • Dygynic
- 7. Chromosomal findings in early miscarriages 40% apparently normal 60% abnormal: Trisomy (47 chromosomes – one extra) 30% 45,X (45 chromosomes – one missing) 10% Triploidy (69 chromosomes – three sets) 10% Tetraploidy (92 chromosomes – four sets) 5% Other chromosome anomalies 5% (e.g. structural anomalies) National Genetics Education and Development centre, 2009
- 8. Effect of Chromosomal Abnormalities • Preimplantation – Implantation Losses • Simpson, J, Carson, S, Glob. libr. women's med., (ISSN: 1756-2228) 2013; DOI 10.3843/GLOWM.10319