Sex Chromosomal Disorders Flashcards

1
Q
A
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2
Q

Karyotyping of Turner Syndrome

A

Monosomy of sex chromosomes —> 45,X

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3
Q

Etiology of Turner Syndrome

A
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4
Q

CP of Classic Turner Syndrome

A
  • Sexual
  • Head
  • MSK
  • Lymphatic
  • Heart
  • Kidney
  • Endocrine
  • Mentality
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5
Q

CP of Classic Turner Syndrome

  • Sex Development
A
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6
Q

CP of Classic Turner Syndrome

  • Head
A
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7
Q

CP of Classic Turner Syndrome

  • MSK
A
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8
Q

CP of Classic Turner Syndrome

  • MSK (Shield Chest)
A

broad chest with widely separated nipples

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9
Q

CP of Classic Turner Syndrome

  • MSK (Webbed Neck)
A

skin folds along the side of the neck

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10
Q

CP of Classic Turner Syndrome

  • Lymphatic
A
  • Cystic hygroma
  • Lymphedema of dorsum hands and feet in the neonatal period
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11
Q

CP of Classic Turner Syndrome

  • Congenital Heart Disease
A
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12
Q

CP of Classic Turner Syndrome

  • Kidney
A
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13
Q

CP of Classic Turner Syndrome

  • Endocrine
A
  • Type 2 D.M.
  • Goiter (Hashimoto’s thyroiditis)
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14
Q

CP of Classic Turner Syndrome

  • Mentality
A

Normal or subnormal (I.Q. may be high)

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15
Q

Different Karyotypes of Turner Syndrome

A
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16
Q

The 2 main medical problems in Turner syndrome

A
  • Short Stature
  • Infertility
17
Q

TTT of Turner Syndrome

A
18
Q

Karyotyping in Klinefelter Syndrome

A
19
Q

CP of Klinefelter Syndrome

A
20
Q

CP of Klinefelter Syndrome

  • In boy of 15 - 16 years
A

Pubic & axillary hair in presence of infantile testis
- (Adrenal gland is intact)

21
Q

CP of Klinefelter Syndrome

  • In Adolesence & Young adult
A
  • Tall
  • Long arms and legs
22
Q

CP of Klinefelter Syndrome

  • In Adulthood
A
23
Q

Complications of Klinefelter Syndrome

A
24
Q

TTT of Klinefelter Syndrome

A

Testosterone (11-12y):

  • Prevent osteoporosis
  • Development of 2y sexual character