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2. Genetics > Microdeletion > Flashcards

Microdeletion Flashcards

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1
Q

[Gen/Microdeletion/methylation/PWS]

Prader-Willi syndrome treatment in the first year? (2)

A
  1. Nutrition management
  2. Growth hormone: universal growth hormone deficiency in PWS
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2
Q

[Gen/Microdeletion]

Name of anomaly?
Name of syndrome?

With bile duct paucity

A

Posterior embryotoxon
Alagille syndrome (del 20p12)

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3
Q

[Gen/Microdeletion]

Name of syndrome?
With cocktail party personality, short stature

A

Williams syndrome (del 7q11.23)

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4
Q

[Gen/Microdeletion]

7q11.23 deletion causes?

A

Williams Syndrome

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5
Q

[Gen/Microdeletion/Williams]

Facial characteristics of Williams syndrome (del 7q11.23)? (5)

A
  1. Broad forehead
  2. Periorbital fullness
  3. Shortened, upturned nose, flat nasal bridge
  4. Elongated philtrum
  5. Down-turned lower lip, wide mouth with full lips
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6
Q

[Gen/Microdeletion/Williams]

Eye findings of Williams (7q11.23)? (2)

A
  1. Stellate pattern of the iris
  2. Strabismus
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7
Q

[Gen/Microdeletion/Williams]

Neurologic/behavioral characteristics of Williams (del 7q11.23) (3)

A
  1. Friendly
  2. Intellectual disability
  3. Hypersensitivity to sounds
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8
Q

[Gen/Microdeletion/Williams]

Heart anomalies Williams (del 7q11.23)?

A

Supravalvular aortic stenosis

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9
Q

[Gen/Microdeletion/Williams]

Endocrine/connective disorders of Williams (del 7q11.23) (3)

A
  1. Hypercalcemia
  2. Connective tissue disorder
  3. Growth delay and short stature
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10
Q

[Gen/Microdeletion/Williams]

Causal gene of connective disorder for Williams (del 7q11.23)

A

Elastin gene

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11
Q

[Gen/Microdeletion/WAGR]

WAGR (11p13 del) syndrome stands for?

A

Wilms tumor
Aniridia
Genitourinary malformation
Reduced intellectual abilities

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12
Q

[Gen/Microdeletion/WAGR]

Gene Deletion of WAGR syndsrome?

A

11p13

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13
Q

[Gen/Microdeletion]

Deletion of 11p13 causes?

A

WAGR syndrome

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14
Q

[Gen/Microdeletion/WAGR]

Causal genes for WAGR syndrome (del 11p13)? (2)

A

PAX6
WT1 (wilms tumor 1)

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15
Q

[Gen/Microdeletion/WAGR]

___ % of WAGR patients develop wilms tumor by ___ years old

A

50 % of WAGR patients develop wilms tumor by 3 years old

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16
Q

[Gen/Microdeletion/WAGR]

Genital anomalies of WAGR syndrome (del 11p13)? (5)

A
  1. Hypospadias
  2. Cryptorchidism
  3. Small penis
  4. Hypoplastic scrotum
  5. Gonadoblastoma
17
Q

[Gen/Microdeletion/WAGR]

Facial characteristics of WAGR syndrome (del 11p13)? (5)

A
  1. Long face
  2. Upward-slanting palpebral fissures
  3. Ptosis
  4. Beaked nose
  5. Poorly formed ears
18
Q

[Gen/Microdeletion/Alagille]

Gene deletion for Alagille syndrome?

A

20p12

19
Q

[Gen/Microdeletion]

20p12 deletion causes?

A

Alagille syndrome

20
Q

[Gen/Microdeletion/Alagille]

Pattern of inheritance of Alagille syndrome (del 20p12)

A

Autosomal dominant

21
Q

[Gen/Microdeletion/Alagille]

Causal gene for Alagille syndrome (del 20p12)

A

Jagged-1 (JAG1) gene

22
Q

[Gen/Microdeletion/Alagille]

Major anomalies for Alagille syndrome (del 20p12)? (4)

A
  1. Bile duct paucity
  2. Pulmonary valve stenosis
  3. Posterior embryotoxon
  4. Butterfly vertebrae
23
Q

[Gen/Microdeletion/Alagille]

Facial dysmorphic features for Alagille (20p12 del) syndrome (4)

A
  1. Pointed chin
  2. Bulbous nose
  3. Deep set eyes
  4. Prominent forhead
24
Q

[Gen/Microdeletion]

Most common microdeletion syndrome?

A

Del 22q11.2 (DiGeorge)

25
Q

[Gen/Microdeletion/22q11]

CATCH22 mnemonic for 22q11 deletion (DiGeorge)

A

Cardiac defect
Abnormal facies
Thymic hypoplasia (immune deficiency)
Cleft defects
Hypocalcemia (parathyroid gland hypoplasia)

26
Q

[Gen/Microdeletion/22q11]

What defect in fetal development causes 22q11.2 deletion (DiGeorge) phenotypes?

A

3rd and 4th pharyngeal pouches

27
Q

[Gen/Microdeletion/22q11]

Cardiac defects of 22q11.2 deletion (DiGeorge) (from the most common) (4)

A
  1. TOF
  2. Interrupted aortic arch
  3. VSD
  4. Truncus arteriosus
28
Q

[Gen/Microdeletion/PWS]

Genetic causes for Prader-Willi (2)

A
  1. Inheritance of paternal deletion of 15q11.2-q13
  2. Maternal uniparental disomy, only maternal copies
29
Q

[Gen/Microdeletion/AS]

Genetic mechanisms of Angelman syndrome (2)

A
  1. Inheritance of maternal deletion of 15q11.2-q13
  2. Paternal uniparental disomy, only parental copies
30
Q

[Gen/Microdeletion/PWS]

Infancy characteristics of Prader-willi syndrome (3)

A
  1. Hypotonia
  2. Feeding difficulties
  3. Facial: Narrow forehead, Almond-shaped eyes
31
Q

[Gen/Microdeletion/PWS]

Childhood characteristics of Prader-Willi (6)

A
  1. Hyperphagia
  2. Short stature
  3. Small hands/feet
  4. Hypogonadism
  5. Behavior disorders
  6. Mild intellectual disability
32
Q

[Gen/Microdeletion/AS]

Neurologic characteristics of Angelman syndrome (7)

A
  1. Seizures
  2. Severe intellectual disability
  3. Microcephaly
  4. Ataxia
  5. Hand-flapping behaviors
  6. Outbursts of laughter
  7. Puppet-like gait

2. Genetics (19 decks)

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