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Chapter 12: Chromosomal Abnormalities
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Figure 12Bc
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Figure 12Bda
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Figure 12.10a NONDISJUNCTION CHANGES CHROMOSOME NUMBERS
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Figure 12.10b NONDISJUNCTION CHANGES CHROMOSOME NUMBERS
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Figure 12Bdb
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Figure 12.11 DOWN SYNDROME & Gart Gene
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Figure 12.11b
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Figure 12Ba
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Figure 12Bb
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Figure 12.12a
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Figure 12.12b
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Trisomy 18 - Edward's Syndrome Failure to grow and gain weight at the expected rate and severe feeding difficulties, diminished muscle tone and episodes in which there is temporary cessation of spontaneous breathing Developmental delays and intellectual disability A prominent back portion of the head, low-set, malformed ears, an abnormally small jaw, a small mouth an upturned nose, narrow eyelid folds, widely spaced eyes, and drooping of the upper eyelids
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TRISOMY 13 (also known as Patau syndrome) - Of all babies born with the extra copy of chromosome 13 in all the cells of their body, around 50% die in the first month, and the rest within the first year Median survival age for children with Patau syndrome is 2.5 days
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CHROMOSOME MUTATIONS
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Figure 12.13
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Figure 12.13a
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Figure 12.13b
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Figure 12.13c
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Figure 12.13d
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Figure 12.14
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DELETION MUTATION (WILLIAMS SYNDROME)
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Williams Syndrome – Deletion of Chromosome 7
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Figure 12.16
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Figure 12.16b
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CRI DU CHAT Deletion of Chromosome #5
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FRAGILE X - duplication mutation
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