Chapter 15: Chromosomal Inheritance Flashcards

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1
Q

Chromosomal Theory of Inheritance

A

states that chromosomes are carriers of genetic information

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2
Q

Karyotype

A

Shows all chromosomes in an organism, organized by size

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3
Q

Disorders that are recessive are…

A

masked in females by the other X chromosome

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4
Q

Human Sex Linked Disorders

A

Colorblindness, Muscular Dystrophy, Hemophilia, Fragile X Syndrome

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5
Q

Muscular Dystrophy

A

Wasting away of muscles, life expectancy is 20 years, females can carry this disease (pass it to sons)

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6
Q

Hemophilia

A

“bleeders disease”, blood doesn’t clot properly, disease was present in the royal family (queen Victoria)

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7
Q

Fragile X Syndrome

A

Caused by triplet repeats (duplication mutation) in a gene on the X chromosome, causes mental retardation, tip of the X chromosome seemed to be attached only by a small thread

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8
Q

Non-Disjunction

A

Changes the chromosome #

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9
Q

Down Syndrome

A

extra chromosome in #21

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10
Q

Trisomy-18 (Edwards syndrome)

A

Extra copy of chromosome #18, Failure to grow/gain weight, developmental delays and intellectual disability, physical appearance (malformed ears, small jaw, narrow eyes)

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11
Q

Trisomy-13 (Patau Syndrome)

A

An extra copy of chromosome #13, 50% of babies die in the first month

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12
Q

Chromosome Mutations

A

Deletion, Duplication, Inversion, Translocation

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13
Q

Cri Du Chat

A

Deletion of gene on chromosome #5

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