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Karyotypes and Chromosomal Disorders PowerPoint Presentation

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Description : Check out this medical presentation on Chromosome, which is titled "Karyotypes & Chromosomal Disorders", to know about karyotypes and chromosomal disorders.

Tags : Chromosome, Karyotypes, Chromosomal Disorders

Published on : Jul 12, 2021 | Views : 874 | Downloads : 0

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Slide 1-

My own grandpa!
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My own grandpa!
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Blue People of KY!
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Karyotypes & Chromosomal Disorders Journal Notes
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Human Karyotype
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Karyotypes photograph of one’s chromosomes, grouped in pairs of homologous chromosomes by size Humans have 1 pair of sex chromosomes (XX or XY) and 22 pairs of autosomes (chromosomes that are not sex chromosomes).
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Chromosome Abnormalities All abnormalities result from an error during meiosis, called “nondisjunction” non – dis – junction The problem arises when during meiosis there is a failure of homologous chromosomes to separate.
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Non-disjunction of chromosomes
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Nondisjunction of chromosomes If non-disjunction occurs, one gamete gets both chromosomes, the other gamete gets nothing.
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Analyzing Karyotypes: 1. Are there 46 chromosomes? 2. Are there 2 identical chromosomes in each pair of autosomes and 2 sex chromosomes? 3. Are there any rearrangements between chromosomes or large, obvious deletions?
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Karyotypes DO NOT show: Individual DNA strands or genes or the DNA sequence The number of genes in a chromosome The presence of gene mutations
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6 Chromosome Disorders caused by Nondisjunction Down syndrome (trisomy 21) Edwards syndrome (trisomy 18) Klinefelters syndrome (trisomy XXY) XYY syndrome (trisomy XYY) XXX syndrome (trisomy X) Turners syndrome (monosomy XO) **Nearly all other nondisjunctions lead to death of embryo or child before adulthood!
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Chromosome Abnormalities Down Syndrome – Extra copy of chromosome 21. Also called “Trisomy 21” Have 47 chromosomes. One of only a few trisomy disorders in which the child has high probability of living to adulthood Short stature Mental retardation Reduced life span Characteristic features
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Down Syndrome Lauren Potter from “Glee”
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Klinefelter Syndrome XXY – Male trisomy of the sex chromosomes 47 Chromosomes Sterile Low testosterone Taller than average Often don’t know they have it unless tested.
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Klinefelter Syndrome XXY
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XYY Syndrome Males with extra Y. 47 chromosomes Taller than average Normal development – never know they have it unless tested. May have sterility problems
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XXX Syndrome Females with extra X 47 chromosomes Taller than average Often develop normally – never know they have it unless tested. May have sterility problems
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Turner Syndrome XO females. Missing 2nd sex chromosome. This is the only monosomy in which the embryo survives. If any other chromosomes are missing then embryo/fetus does not survive. 45 chromosomes Sterile Shorter than average various other characteristic symptoms
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Turner Syndrome - XO