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2. Genetics > Sex Chromosome > Flashcards

Sex Chromosome Flashcards

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1
Q

[Gen/Sex Chr aneuploidy]

Most common sex chromosome abnormality (3, from the most common)

A

XXY (Klinefelter) > XYY > XXX > XO (Turner)

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2
Q

[Gen/Sex Chr aneuploidy]

Which sex aneuploidy that does not correlate with maternal age?

A

Turner (XO)
(Mostly paternal error)

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3
Q

[Gen/Sex Chr aneuploidy/XO]

Endocrine abnormality for Turner? (2)

A
  1. Ovarian failure/gonadal dysgenesis/primary amenorrhea
  2. Short stature
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4
Q

[Gen/Sex Chr aneuploidy/XO]

[Sex aneuploidy/XO Turner]
Cardiac abnormality for Turner (2)

A
  1. Bicuspid aortic valve
  2. Coarctation of aorta
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5
Q

[Gen/Sex Chr aneuploidy/XO]

Autoimmune abnormality for Turner (3)

A
  1. Autoimmune thyroiditis
  2. Alopecia
  3. Vitiligo
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6
Q

[Gen/Sex Chr aneuploidy/XO]

GI abnormality for Turner? (2)

A
  1. Carbohydrate intolerance
  2. Celiac disease
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7
Q

[Gen/Sex Chr aneuploidy/XO]

Renal anomalies for Turner? (3)

A
  1. Horseshoe kidney
  2. Duplicate collecting system
  3. Abnormal vasculature
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8
Q

[Gen/Sex Chr aneuploidy/XO]

Type of hearing loss for Turner?

Percentage of hearing loss for Turner in adults?

A

Progressive sensorineural

25% in adults

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9
Q

[Gen/Sex Chr aneuploidy]

Name of anomaly?
Name of syndrome?

With generalized edema at birth, horseshoe kidney

A

Hyperconvex fingernails
Turner

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10
Q

[Gen/Sex Chr aneuploidy]

Name of anomaly?
Name of syndrome?

A

Madelung deformity
Distal radioulnar subluxation

Turner

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11
Q

[Gen/Sex Chr aneuploidy/XYY]

Characteristics of XYY? (6)

A
  1. Not a true syndrome
  2. Taller
  3. Severe nodular cystic acne
  4. Developmental/behavioral issues
  5. Prolonged PR interval
  6. Radioulnar synostosis (rare)
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12
Q

[Gen/Sex Chr aneuploidy/XO]

Physical characteristics of Turner (5)

A
  1. webbed neck (from fetal cystic hygroma)
  2. shieldlike chest
  3. lymphedema of the hands and feet
  4. short 4th metacarpals
  5. cubitus valgus
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13
Q

[Gen/Sex Chr aneuploidy/XXY]

Most common cause of XXY (Klinefelter) syndrome

A

Maternal Meiotic nondisjunction

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14
Q

[Gen/Sex Chr aneuploidy/XXY]

Characteristics of Klinefelter? (4)

A
  1. Tall stature
  2. Gynecomastia
  3. Delayed secondary sex development
  4. Small testes/Azospermia/infertile
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15
Q

[Gen/Sex Chr aneuploidy/XXX]

Most common causes of extra X chromosome syndromes (XXX, XXXX)

A

Mosaicism

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16
Q

[Gen/Sex Chr aneuploidy/XXX]

Characteristics of extra X syndrome?

A

Normal
The more X, the more neurologic symptoms

2. Genetics (19 decks)

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