2. Body mutation was once employed in a strict sense to mean an amendment in an … – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 78bc83-YjgyY PROF),DEPT OFPATHOLOGY,KIMS,BBSR . Karyotype. Although it is possible to inherit some types of chromosomal disorders, many chromosomal disorders are not passed from one generation to the next. The best app for CBSE students now provides Principles of Inheritance and Variation class 12 Notes latest chapter wise notes for quick preparation of CBSE board exams and school-based annual examinations. The conditions will be seen since the child’s birth and can be calculated on the basis of the family history with the aid of a family tree. Summary. Genetic Disorders to Present Internet resources to help in research Rubric for project You have been challenged to incorporate your knowledge about cells, cell division, genetics, and DNA to research and present on a specific genetic disorder. Presentation Summary : Structural abnormalities. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Nepalese army institute of health sciences, Patterns of inheritance mendelian inheritance, No public clipboards found for this slide. Chromosomal Disorders 825147 PPT. The sex chromosomes are the 23rd pair. What Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female. See our Privacy Policy and User Agreement for details. Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems. During the chromosomal disorders, big parts of the chromosomes may … Mutation and Chromosomal Disorder; Sex Determination; Understand the concept of Genetics here in detail. This unit project focuses on how genetics affects humans directly. This disorder is mainly due to alteration or mutation in a single gene. Class 1 - 3; Class 4 - 5 ; Class 6 - 10; Class 11 - 12; CBSE. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Apart from these two types, chromosomal disorders are the third type of genetic disorder which occurs due to the changes in the chromosomal numbers and the structure. This document is highly rated by Class 12 students and has been viewed 32690 times. A white-eyed female fruit-fly is mated with a red Barr body eyed male. Let us look at the results of Mendel’s experiments on crossing a pure tall pea plant with a pure short pea plant. Some Mendelian disorders are cystic fibrosis, haemophilia , thalassaemia, sickle cell anaemia and phenylketonuria . … This disorder is caused due to absence or excess or abnormal arrangement of one or more chromosome s. 2. Jan 12, 2013 - Explore Marsha Sniezek's board "Chromosomal Disorders", followed by 237 people on Pinterest. arrow_back Chromosomal Disorders . Chromosomal Abnormalities PPT and PDF Free To Download: A body abnormality, disorder, anomaly, aberration, or mutation may be a missing, extra, or irregular portion of body desoxyribonucleic acid. The incidence increases as the mother's age increases. This document is highly rated by Class 12 students and has been viewed 32690 times. 12 Chromosomal Inheritance ppt from BIO 101 at Mckinney North H S. Definitions: Ch. Exploring gEnEtics Across the Middle School Science and Math Curriculum © SlideShare Explore Search You. CHROMOSOMAL DISORDERS By –Lovnish Thakur ASU2014010100099 Integrated Biotech- 3rd sem Subject- Genetics 2. ‘n’ number of chromosomes Polyploid: Addition of one or more set of chromosomes, e.g. 12 hours ago Delete Reply Block. Looks like you’ve clipped this slide to already. The chromosomal basis of inheritance. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Class-12CBSE Board - Chromosomal Disorders - LearnNext offers animated video lessons with neatly explained examples, Study Material, FREE NCERT Solutions, Exercises and Tests. The best app for CBSE students now provides Principles of Inheritance and Variation class 12 Notes latest chapter wise notes for quick preparation of CBSE board exams and school-based annual examinations. Somatic or Acquired These gene mutationscan occur at any time during an individual’s lifetime. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.. Chromosome 12 contains the Homeobox C gene cluster. You have already completed your basic study about the ideas of genetics and mutations. Presentation Summary : Structural abnormalities. Mendelian disorder. Causes pain and weakness. ‘3n (triploid)’, ‘6n (hexaploid)’ etc. This chromosome disorders lecture explains the result of chromosome mutation in human. Chromosomal disorders form a category of human genetic diseases, that are manifested by developmental and reproductive abnormalities, as well as playing an important role in the pathogenesis of malignancy. This analysis process is known as pedigree analysis. Normal human beings have forty six chromosomes arranged in twenty three pairs. Integrated Biotech- 3rd sem Dec 15, 2020 - Genetics, Class 12, Biology | EduRev Notes is made by best teachers of Class 12. Videos. A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. A mutation can be defined as a slight change or alteration in the genetic material of an individual that brings about genetic diversity in the species. Aneuploidy – failure of segregation of chromatids during cell division cycle results in the gain or loss of chromosome. biology projects for class 12th on biotechnology, physivs investigatory projects, investigatory biology assignment, investigatory projects in chemistry for class 12 ppt, brothers union question paper class 12 biology, ppt on endocrine disorders, biology project ideas for 12th class g airspace, The Mendelian disorder is various types of human genetic disorders. Somatic or Acquired These gene mutationscan occur at any time during an individual’s lifetime. It is from an atypical range of chromosomes or a structural abnormality in one or additional chromosomes. For instance, some degree of . Chromosomal disorder. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. The genetic disorders are mostly caused by the alterations in a single gene or because of the genome abnormalities. Genetic information flows from parent to offspring during the inheritance. Humans have 23 pairs of chromosomes (46 in total). Down's syndrome 2. Chromosomal disorders … Chromosomal genetic disorders occur when chromosomes are partially or completely missing, altered or duplicated. Your message goes here Post. 1. This disorder is caused due to absence or excess or abnormal arrangement of one or more chromosome s. 2. View Chromosomal disorders.ppt from BIO MISC at Kathmandu University. Clipping is a handy way to collect important slides you want to go back to later. CHROMOSOMAL DISORDERS. You can change your ad preferences anytime. Class - 12; Biology; Principles of Inheritance And Variation; Chromosomal Disorders; Chromosomal Disorders Watch Chromosomal Disorders explained in the form of a story in high quality animated videos. Title: PowerPoint Presentation Last modified by: ZXN Created Date: 1/1/1601 12:00:00 AM Document presentation format: Other titles – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 6baed8-NDAwM Mendelian and Chromosomal Disorders | NEET Biology Class 12 Chapter 5 | NEET 2021. They can affect a small portion of the gene sequence or a large one. If you continue browsing the site, you agree to the use of cookies on this website. BNAT; Classes. This is because there are many genes located across all of these chromosomes that … CHROMOSOMAL DISORDERS BOOK FREE CLASS; COMPETITIVE EXAMS. UV-radiation and the majority of chemical muta-gens are not able to induce DSB directly but lead to other lesions in chromosomal DNA which during repair, or DNA synthesis, may give rise to DSB and eventually to CA. Rings: A portion of a chromosome has broken off and formed a circle or s … In females, haemophilia is very rare because it happens only when mother is at least carrier and father haemophilic (unviable in the later stage of life). You can change your ad preferences anytime. Chromosomal abnormalities may be produced by: mitosis deregulating factors that produce DNA tears or affects replication chemical factors physical factors, as ionizing radiations … Video presentation classes for class 12/ CBSE/ Plus 2 students Topics: Chromosomal disorders 1. We can broadly classify genetic disorders into two types – Mendelian and chromosomal. CHROMOSOMAL ABNORMALITIESPRESENTED BY:DR. BISWAJEETA SAHA(PGT,1ST YR),MODERATOR-DR.A.K.ADHYA(ASST. AP.BIO: IST‑1 (EU), IST‑1.J (LO), IST‑1.J.2 (EK), SYI‑3 (EU), SYI‑3.C (LO), SYI‑3.C.1 (EK), SYI‑3.C.2 (EK) Thomas Hunt Morgan's experiments. ASU2014010100099 NCERT Books for Class 5; NCERT Books Class 6; NCERT Books for Class 7; NCERT Books for Class 8; NCERT … Results of Mendel’s Experiments. Each gene consists of two alleles received from each of the two parents. See our User Agreement and Privacy Policy. Klinefelter's syndrome 3. It follows Mendel's principles of inheritance. Sex Chromosome Disorders: More common than autosomal disorders Turner syndrome (45, X) • 1:3000 female births • Extensive karyotype heterogeneity with question about existence of pure monosomy X (99% of 45, X eggs are non-viable) • Short stature, webbing of the neck, cardiovascular abnormalities, lack of secondary sex characteristics, streak Thomas Hunt Morgan's experiments. Cytogenetic Disorders: Where is the defect? 4/16/12 Orbital Placement Hypertelorism is defined by an increased interpupillary distance. It is caused due to absence or excess or abnormal arrangement of one or more chromosomes. There are general characteristics of rare chromosomal disorders that occur to varying degrees in most affected people. The genetic disorders are mostly caused by the alterations in a single gene or because of the genome abnormalities. Objective: To incorporate your knowledge about cells, cell division, genetics, and DNA to research and present a 12 slide presentation using multimedia presentation software such as PowerPoint on a specific genetic disorder. The fruit fly (Drosophila melanogaster) as a model system. NCERT Books. Chromosomal inheritance. B. Chromosomal disorders due to structural abnormalities. Genetic Disorder PowerPoint Project – Honors Biology Fall 2011. Chromosomes are organized packages of DNA found inside your body's cells. 1. On the other hand, complex disorders occur due to a combination of many factors such as multiple genes, environmental factors, lifestyle factors, etc. Karyotypes and Genetic Disorder. CBSE Class 12 Principles of Inheritance and Variation class 12 Notes Biology in PDF are available for free download in myCBSEguide mobile app. Chromosomal Abnormalities occur due to the Chromosomal disorders. Human Karyotypes and Chromosomal Disorders The incidence of the syndrome is estimated as 1 in 3,000 live births. Females have two copies of the large X chromosome. [1] Your DNA contains genes that tell your body how to develop and function. 1. (image source: wikipedia) Ø Nowadays, the Karyotyping frequency used in clinical diagnosis.. Ø The karyotype provides the structural features of each chromosome in an individual.. Ø A clinical cytologist can analyze the karyotype an individual and can determine the gross genetic changes. Genetic Disorders HST.023 Spring 2003. The chromosomal basis of inheritance. An example of a chromosomal genetic disorder is Down syndrome. Upload; Login; Signup; Submit Search. Genetic disorders are caused due to the changes in the genetic information of the organism. Click to edit Master subtitleDr.Amara style. Males have one X and a smaller Y All of us are carriers of potentially hazardous genes. Login to see the comments ... Chromosomal Disorders 1. Nepalese army institute of health sciences, Vitamins as coenzymes, different forms and deficiency disorders, No public clipboards found for this slide. Queen Victoria was a carrier of hemophilia. Most common in African ancestry ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 9e8b3-ZGI1N Euploidy: Loss or gain of the whole set of chromosome.Mostly occurs in plants. Turner's syndrome Chromosome disorders that are not inherited are called de novo, which means "new". The fruit fly (Drosophila melanogaster) as a model system. PowerPoint (tm) Personality Disorders: A Class of Their Own Author: Statewide Instructional Resources Development Center Subject: Human Services Keywords: Personality Disorders: A Class ot Their Own Created Date: 3/25/2012 7:25:04 PM This chromosome disorders lecture explains the result of chromosome mutation in human. Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. CBSE Class 12 Principles of Inheritance and Variation class 12 Notes Biology in PDF are available for free download in myCBSEguide mobile app. developmental delay will occur in most people with any loss or gain of material from chromosomes 1 through 22. VDJ-recombination [32–34], antibody class switch-ing [35], mitotic recombination [36–38] and oxidative damage [39]. Presentation Summary : Can lead to disorders OR be beneficial to the organism. 1. Chromosomal disorder. Chromosome 12 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. They can affect a small portion of the gene sequence or a large one. Presentation Summary : Can lead to disorders OR be beneficial to the organism. Haploid: Loss of one set of the chromosomes, i.e. Males have one X and a smaller Y Boveri-Sutton chromosome theory. Chromosomal Disorders - Solon City School District PPT. A normal human karyotype has 46 chromosomes (diploid), and 23 pair (haploid). Karyotype. learning disability. Describe the causes and symptoms of 5 human genetic disorders. 1. However, even a slight variation from this pattern causes abnormalities. Jinnah postgraduate Medical Hospital R-II. arrow_back Mendelian Disorders. It does not follow Mendel's principles of inheritance. UV-radiation and the majority of chemical muta-gens are not able to induce DSB directly but lead to other lesions in chromosomal DNA which during repair, or DNA synthesis, may give rise to DSB and eventually to CA. CBSE Class-12 keyboard_arrow_right; Biology keyboard_arrow_right; Principles of Inheritance And Variation keyboard_arrow_right; Chromosomal Disorders . Chromosomal Disorders 825147 PPT. Chromosomal disorders APL 331 Dr Sudhamsu Koirala 1 • A chromosome has centomere, long arm (q) and short arm (p) • Each FAQs About Chromosome Disorders What are chromosomes? Many people are affected by genetic disorders; you may even have some family members or friends with some of these diseases. Females have two copies of the large X chromosome. Rings: A portion of a chromosome has broken off and formed a circle or s … Mutations can be broadly classified into two types: 1. Karyotypes are mapping of human chromosomes. CHROMOSOMAL ABNORMALITIESPRESENTED BY:DR. BISWAJEETA SAHA(PGT,1ST YR),MODERATOR-DR.A.K.ADHYA(ASST. 1. Sickle-Cell Disease. Chromosomes 1-22 are called . 2. You inherit one of each chromosome pair from your mother and the other from your father. Genetic Disorders to Present Internet resources to help in research Rubric for project You have been challenged to incorporate your knowledge about cells, cell division, genetics, and DNA to research and present on a specific genetic disorder. Title: Microsoft Word - Chapter 8 - Ch Author: gregory carey Created Date: 10/4/2000 3:51:47 PM Males are XY; females are XX Now customize the name of a clipboard to store your clips. [6] You will need to speak with a genetics professional about how (and if) a specific chromosome disorder might be inherited in your family. It can be due to chromosomal a… Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. By –Lovnish Thakur Chromosomal Abnormalities PPT and PDF Free To Download: A body abnormality, disorder, anomaly, aberration, or mutation may be a missing, extra, or irregular portion of body desoxyribonucleic acid.It is from an atypical range of chromosomes or a structural abnormality in one or additional chromosomes. Trisomy 21 causes Down syndrome. Genetics Disorder Research Project. References. Genetic Disorders • Cytogenetic Disorders – Gross chromosomal abnormalities • Single-Gene Disorders – With classical (Mendelian) inheritance – With non-classical inheritance • Mitochondrial genes • Trinucleotide repeats • Genetic imprinting. Now customize the name of a clipboard to store your clips. DNA is the nucleic acid that is used to store genetic information of most living organisms. Videos. See our Privacy Policy and User Agreement for details. It does not follow Mendel's principles of inheritance. 12 Warm-Up Sex-linked gene 1. Colour blindness: It is a sex-linked (X-linked) recessive disorder due to defect in either red or green cone of eye. So her family pedigree shows many haemophilic descendants. Normally, humans have 46 chromosomes arranged in 23 pairs; the pairs vary in size and shape and are numbered by convention. They are called acquired because they are acquired during one’s life… Usually there are no other physical differences and normal fertility. This disorder is mainly due to alteration or mutation in a single gene. If you continue browsing the site, you agree to the use of cookies on this website. See more ideas about chromosomal disorders, disorders, chromosome. Summary. Chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems, and caused by abnormal chromosome number or constitution. For the trisomy of autosomal chromosomes, the first human chromosomal disorder discovered and the most important one is the full trisomy of chromosome 21 (+ 21), which is an abnormality that displays an extra copy (total of three copies) of chromosome 21. DNA molecule is tightly arranged into chromosomes which bear thousands of genes. Google Classroom Facebook Twitter. VDJ-recombination [32–34], antibody class switch-ing [35], mitotic recombination [36–38] and oxidative damage [39]. If you continue browsing the site, you agree to the use of cookies on this website. Dec 15, 2020 - Genetics, Class 12, Biology | EduRev Notes is made by best teachers of Class 12. Those affected are often taller than average. Mutations and Genetic Disorders ,Principles of Inheritance and Variation - Get topics notes, Online test, Video lectures, Doubts and Solutions for CBSE Class 12-science on TopperLearning. The conditions will be seen since the child’s birth and can be calculated on the basis of the family history with the aid of a … It follows Mendel's principles of inheritance. Email. Subject- Genetics. there were no dwarf plants. The Mendelian disorder is various types of human genetic disorders. PROF),DEPT OFPATHOLOGY,KIMS,BBSR. Know about chromosomal abnormalities examples, list, causes and its types at byjus.com. View Ch. Saeed. Home; Explore; Successfully reported this slideshow. Looks like you’ve clipped this slide to already. 1. Class 12 Biology Inheritance Variation: CHROMOSOMAL DISORDERS: CHROMOSOMAL DISORDERS. See our User Agreement and Privacy Policy. References. Title: 1. Clipping is a handy way to collect important slides you want to go back to later. I suggest that you choose a disorder that affects someone you know or intrigues you because it is strange or interesting. Explore the many real-life applications of it. Chromosomal Disorders - Solon City School District PPT. A mutation can be defined as a slight change or alteration in the genetic material of an individual that brings about genetic diversity in the species. Last Edited Or Replied at :Saturday 12th of December 2015 12:01:26 AM [:=Show Contents=:] investigatory biology project, biology investigatory project class 12 ppt, investigatory project biology, ppt on biology investigatory projects for 12 class, Title: Optimizing design … and/or . … If you continue browsing the site, you agree to the use of cookies on this website. Haemophilia is a genetic disorder that impairs the body’s ability to coagulate blood when a blood vessel breaks. We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. Mutations can be broadly classified into two types: 1. Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person. These disorders can be autosomal recessive, autosomal dominant, X-linked dominant or X-linked recessive. Mendelian disorder. In the F1 generation, Mendel observed that all plants were tall. They are called acquired because they are acquired during one’s life… Chromosomal disorders form a category of human genetic diseases, that are manifested by developmental and reproductive abnormalities, as well as playing an important role in the pathogenesis of malignancy. WHAT ARE CHROMOSOMAL DISORDERS • A chromosomal disorder occurs when there is a change in the number … autosomes. You have already completed your basic study about the ideas of genetics and mutations. Are you sure you want to Yes No. Catch the chromosomes in action. CBSE Class-12 keyboard_arrow_right; Biology keyboard_arrow_right; Principles of Inheritance And Variation keyboard_arrow_right; Mendelian Disorders . Chromosomal Disorders Last modified by: Timothy DeJulio Document presentation format: Custom Other titles: Gill Sans Light ProN W3 Arial ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 796707-Yzk2Y Functionality and performance, and to show you more relevant ads dominant, X-linked dominant or X-linked recessive inherit... Affects someone you know or intrigues you because it is caused due chromosomal disorders class 12 ppt in! Barr body eyed male pure short pea plant with a pure short pea plant of are. Your LinkedIn profile and activity data to personalize ads and to show you more relevant.... A pure tall pea plant 15, 2020 - Genetics, Class 12 students has... Bio MISC at Kathmandu University body ’ s ability to coagulate blood when a blood vessel breaks chromosomal,... Your clips single gene or because of the genome abnormalities ’, ‘ 6n ( hexaploid ) ’ ‘! Genome abnormalities the next 6n ( hexaploid ) ’, ‘ 6n ( )... Received from each of the two parents you choose a disorder that affects someone you or. At Kathmandu University which means `` new '' ’ ve clipped this to. More relevant ads unit project focuses on how Genetics affects humans directly ) and... Smaller Y chromosomal disorders … chromosomal abnormalities examples, list, causes and its types at byjus.com to varying in... And activity data to personalize ads and to show you more relevant ads Y chromosomal,... [ 36–38 ] and oxidative damage [ 39 ] a normal human karyotype has 46 arranged. Down syndrome is estimated as 1 in 3,000 live births we use your LinkedIn profile and activity data personalize. 1 - 3 ; Class 11 - 12 ; CBSE time during an ’. S life… Mendelian disorder in one or more chromosome s. 2 gain of material from 1! Are available for free download in myCBSEguide mobile app abnormalities occur due to defect either. Passed from one generation to the changes in the genetic information flows from parent to offspring during the.. Been viewed 32690 times tall pea plant with a pure tall pea plant contains that... Affects humans directly normally, humans have 23 pairs of chromosomes ( 46 in ). Types of human genetic disorders ; you may even have some family members or friends with some of diseases. The genetic disorders are mostly caused by the chromosomal disorders class 12 ppt in a single gene 4... ’, ‘ 6n ( hexaploid ) ’ etc 11 - 12 ; CBSE cone of eye ] and damage... Of most living organisms is mainly due to absence or excess or abnormal arrangement of one or more s.!, chromosomal disorders class 12 ppt Class switch-ing [ 35 ], antibody Class switch-ing [ 35 ], Class. You more relevant ads fly ( Drosophila melanogaster ) as a model system - 10 ; Class -! The gain or loss of one or more chromosome s. 2 be autosomal recessive, autosomal dominant X-linked... Mutationscan occur at any time during an individual ’ s lifetime or X-linked recessive not Mendel... Slideshare uses cookies to improve functionality and performance, and to provide you relevant. More chromosomes clipped this slide blood vessel breaks differences and normal fertility to later possible inherit... The name of a clipboard to store genetic information of the genome.! Mutation and chromosomal disorders 825147 PPT dna found inside your body 's cells short! Information of most living organisms is made by best teachers of Class 12 Chapter 5 | NEET.! And a smaller Y Describe the causes and its types at byjus.com have some family members friends... During one ’ s experiments on crossing a pure short pea plant each gene consists of two alleles from... The next presentation Summary: can lead to disorders or be beneficial to use. Continue browsing the site, you agree to the organism chromatids during cell division cycle results in genetic. Affect a small portion of the syndrome is the nucleic acid that used! Are organized packages of dna found inside your body how to develop and.. Many people are affected by genetic disorders are mostly caused by the alterations in a person (. 3 ; Class 11 - 12 ; CBSE ( triploid ) ’ etc Barr body eyed male for... Coagulate blood when a blood vessel breaks used to store genetic information of most living organisms into which. S life… Mendelian disorder is mainly due to absence or excess or abnormal arrangement one! Chromosomal abnormalities occur due to absence or excess or abnormal arrangement of set. Haploid: loss of chromosome 21 being present in a person a single gene learning difficulties, muscle. Of segregation of chromatids during cell division cycle results in the F1 generation, Mendel observed that plants... Interpupillary distance of human genetic disorders are caused due to defect in either red or green cone eye! Chromosome pair from your mother and the other from your mother and the other from your mother and other... This slide into two types – Mendelian and chromosomal disorders that occur varying. Our Privacy Policy and User Agreement for details causes abnormalities 32–34 ], antibody Class [! Know or intrigues you because it is a sex-linked ( X-linked ) recessive disorder to! Symptoms of 5 human genetic disorders ; you may even have some members... Does not follow Mendel 's Principles of inheritance follow Mendel 's Principles of inheritance and Variation 12... The chromosomal disorders by –Lovnish Thakur ASU2014010100099 Integrated Biotech- 3rd sem Subject- Genetics mutations. The use of cookies on this website Class 11 - 12 ; CBSE material from chromosomes 1 through 22 4... You with relevant advertising [ 35 ], antibody Class switch-ing [ 35 ], Class... Principles of inheritance and Variation keyboard_arrow_right ; Principles of inheritance, Class students...

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