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Medical Genetics > Single-Gene Disorders > Flashcards

Single-Gene Disorders Flashcards

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USMLE® Step 1 flashcards Biology 101 flashcards
1
Q

AD disease inheritance chx

A

Observed in multiple generations of a pedigree

Males and females affected equally

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2
Q

AD diseases

A
  1. Familial hypercholesterolemia
  2. Huntington
  3. NF type 1
  4. Marfan
  5. Acute intermittent porphyria
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3
Q

AR disease inheritance chx

A

Offspring must inherit 1 copy of gene from both parents

Typically seen in one 1 generation of a pedigree

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4
Q

AR diseases

A
  1. Sickle cell anemia
  2. CF
  3. PKU
  4. Tay-Sachs
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5
Q

X-linked recessive inheritance chx

A

Seen much more in males

Skipped generations on Pedigree

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6
Q

X-linked recessive senario

Affected male + homozygous normal female

A

All of daughters will be heterozygous carriers

All sons will be homozygous normal

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7
Q

X-linked recessive senario

Normal male + Carrier female

A

Half of sons affected

Half of daughters will be carriers

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8
Q

X-linked recessive diseases

A
  1. Duchenne
  2. Lesch-Nyhan
  3. G6PD
  4. Hemophilia A and B
  5. Red-green color blindness
  6. Menke’s
  7. OTC deficiency
  8. SCID
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9
Q

X-linked dominant inheritance chx

A

100% penetrance in males

Seen twice as much in males

Seen in multiple generations on pedigree with no skipping

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10
Q

Fragile X syndrome genetics

A

X-linked dominant

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11
Q

Fragile X syndrome symptoms in males

A
  1. Mental retardation
  2. Large ears
  3. Prominent jaw
  4. Macro-orchidism
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12
Q

Pleiotropy is

A

Single dease-causing mutation affects multiple organs

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13
Q

Locus Heterogeneity is

A

when the same disease phenotype can be caused by mutation in different loci

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14
Q

Diseases showing delayed age of onset

A
  1. Acute intermittent porphyria
  2. Huntington
  3. Hemochromatosis
  4. Famililal Breast cancer
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15
Q

Diseases showing anticipation

A
  1. Huntington
  2. Fragile X
  3. Myotonic dystrophy
  4. Freidreich ataxia
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16
Q

Huntington disease genetics and defect

A

AD

CAG repeat

17
Q

Fragile X genetics and defect

A

X-linked dominant

CGG repeat

18
Q

Myotonic dystrophy genetics and defect

A

AD

CTG repeat

19
Q

Friedreich ataxia genetics and defect

A

AR

GAA repeat

20
Q

Fridreich ataxia symptoms

A
  1. Gat and limb ataxia
  2. Areflexia in all 4 limbs
  3. Hypertorphic cardiomyopathy
  4. Axonal sensory neuropathy
  5. Kyphoscoliosis
21
Q

Prader-Willis is a deletion of

A

Paternal chromosome 15

22
Q

Prader-Willi symptoms

A
  1. Neonatal hypotonia
  2. Poor feeding in neonatal period
  3. Behavior problems
  4. Moderate mental and developmental retardation
  5. Hypogonadism
  6. Hyperphagia and boesity by age 2
  7. Small hands and feet
23
Q

Angelman is a deletion of

A

Maternal chromosome 15

24
Q

Angelman symptoms

A
  1. Severe mental retardation
  2. Seizures
  3. Ataxia
  4. Puppet-like posture of limbs
  5. Happy disposition
25
Q

What type of Chromosomes are involved in Robertsonian translocations

A

Acrocentric

26
Q

Trisomy 18 is

A

Edward syndrome

27
Q

Edward syndrome symptoms

A
  1. Clenched fist with overlapping fingers
  2. Inward turned, “rocker-bottom”, feet
  3. Congenital heart defects
  4. Low-set ears
  5. Micrognathia
  6. Mental retardation
28
Q

Trisomy 13 is

A

Patau syndrome

29
Q

Patau syndrome symptoms

A
  1. Polydactyly
  2. Cleft lip and palate
  3. Microphthalmia
  4. Microcephaly
  5. Mental retardation
  6. Cardiac and renal defects
30
Q

Klinefelter syndrome chromosome

A

47, XXY

31
Q

Klinefelter syndrome symptoms

A
  1. Testicular atrophy
  2. Infertility
  3. Gynecomastia
  4. Female distribution of hair
  5. Low testosterone
  6. Elevated FSH and LH
  7. High-pitched voice
32
Q

Turner Syndrome chromosome

A

45, X

33
Q

Turner syndrome symptoms

A
  1. Short
  2. Edema of wrists and ankles in newborn
  3. Cystic hygmroma in utero
  4. Excess nuchal skin
    1. Webbed neck
  5. Amenorrhea
  6. Coarctation of Aorta
  7. Infertility
  8. Gonadal dysgenesis
34
Q

t(9;22) leads to

A

CML

c-able

35
Q

t(15;17) leads to

A

AML

retinoid receptor - α

36
Q

t(14;18) leads to

A

Folicular lymphoma

bcl-2

37
Q

t(8;14) leads to

A

Burkitt lymphoma

c-myc

38
Q

t(11;14) leads to

A

mantel cell lymphoma

cyclin D

39
Q

Heritability equation from twin studies

A

(CMZ-CDZ)/(1-CDZ)

Medical Genetics (1 decks)

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