Genetic Disorders Flashcards

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1
Q

A taller less muscular body than males their
age

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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2
Q

Broader hips and longer legs

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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3
Q

Large breast

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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4
Q

Weaker bones

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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5
Q

A lower energy level

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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6
Q

Smaller penis and testicles

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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7
Q

Delay in puberty or go a parcel amount

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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8
Q

Less facial and body hair following puberty

Genetic Disorders

A

Klinefelter Syndrome (47, XXY)

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9
Q

Monosomy

Genetic Disorders

A

Turner Syndrome (45, XO)

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10
Q

All or part of one X chromosome is absent

Genetic Disorders

A

Turner Syndrome (45, XO)

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11
Q

Short stature, webbed neck, rudimentary
ovaries, underdeveloped breasts, broad-shield
like chest

Genetic Disorders

A

Turner Syndrome (45, XO)

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12
Q

Partial monosomy (loss of some part of the p
arm of chromosome 5)

Genetic Disorders

A

CRI-DU-CHAT SYNDROME (46, 5P-)

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13
Q

Individual has a shrieking cry similar to that of
a meowing cat

Genetic Disorders

A

CRI-DU-CHAT SYNDROME (46, 5P-)

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14
Q

Anatomical malformations, gastrointestinal
and cardiac malfunctions

Genetic Disorders

A

CRI-DU-CHAT SYNDROME (46, 5P-)

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15
Q

Often mentally retarded

Genetic Disorders

A

CRI-DU-CHAT SYNDROME (46, 5P-)

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16
Q

Philtrum is deep

Genetic Disorders

A

CRI-DU-CHAT SYNDROME (46, 5P-)

17
Q

Trisomy 21

Genetic Disorders

A

Down Syndrome (47, 21+)

18
Q

Prominent epicanthic fold in the corner of the
eye

Genetic Disorders

A

Down Syndrome (47, 21+)

19
Q

Simian crease

Genetic Disorders

A

Down Syndrome (47, 21+)

20
Q

Characteristically short small, round heads;
protruding furrowed tongues, short broad
hands, physical and mental development are
retarded

Genetic Disorders

A

Down Syndrome (47, 21+)

21
Q

Trisomy 18

Genetic Disorders

A

Edward Syndrome (47, 18+)

22
Q

Small head

Genetic Disorders

A

Edward Syndrome (47, 18+)

23
Q

Low set malformed ears

Genetic Disorders

A

Edward Syndrome (47, 18+)

24
Q

Abnormally small jaws

Genetic Disorders

A

Edward Syndrome (47, 18+)

25
Q

lip/cleft palate

Genetic Disorders

A

Edward Syndrome (47, 18+)

26
Q

Underdeveloped thumbs or nails

Genetic Disorders

A

Edward Syndrome (47, 18+)

27
Q

Very low rate of survival due to heart and
kidney abnormalities and other organ
disorders

Genetic Disorders

A

Edward Syndrome (47, 18+)

28
Q

Trisomy 13

Genetic Disorders

A

Patau Syndrome (47, 13+)

29
Q

Cleft palate

Genetic Disorders

A

Patau Syndrome (47, 13+)

30
Q

Polydactyly

Genetic Disorders

A

Patau Syndrome (47, 13+)

31
Q

Low set of ears

Genetic Disorders

A

Patau Syndrome (47, 13+)

32
Q

Abnormal genitalia

Genetic Disorders

A

Patau Syndrome (47, 13+)

33
Q

Overlapping of fingers over thumb

Genetic Disorders

A

Patau Syndrome (47, 13+)

34
Q

Cutis aplasia (missing portion of the skin or
hair)

Genetic Disorders

A

Patau Syndrome (47, 13+)