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Patho > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

One dominant allele is enough to produce phenotype

A

Autosomal dominant

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2
Q

Variable expression:

proportion of those who inherit the gene and express its phenotype

A

Penetrance

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3
Q

Variable expression:

Variability in phenotypic expression among those who inherit the gene

A

Expressivity

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4
Q

Gene defect in Marfans

A

Fibrillin-1 gene

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5
Q

Loss of support in microfibril rich connective tissue

Tall, arachnodactyly, hyperextensible joints, ectopia lentis, mitral valve prolapse

A

Marfan syndrome

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6
Q

Defect in fibrillar collagen

Structural proteins or enzymes

A

Ehlers-Danlos syndrome

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7
Q

Autosomal recessive type of Ehlers-Danlos

A

Kyphoscoliosis Type 6
- lysyl hydroxylase
Dermatosparaxis Type 7c
- procollagen n- peptidase

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8
Q

Diaphragmatic hernia is seen in this type of EDS

A

Classic EDS

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9
Q

Hyperextensible skin
Hypermobile joints
Retinal detachment

A

Ehlers-Danlos

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10
Q

Two recessive alleles produce the phenotype

25% chance of having the trait

A

Autosomal recessive

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11
Q

Defect in a subunit of hexosaminidase A

A

Tay Sachs

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12
Q

Accumulation if GM2 ganglioside in neurons and retina

Cherry red spot in retina
Whorled onion skin appearance cytoplasmic inclusions

A

Tay Sachs

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13
Q

Defect in sphingomyelinase– accumulation of sphingomyelin

A

Niemann Pick

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14
Q

Hepatosplenomegaly
Cherry red spot in macula
With neurologic damage
Infantile

A

Niemann Pick A

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15
Q

Most common lysosomal storage disease

A

Gaucher

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16
Q

Defect in Gaucher

A

Glucerebrosidase (B glucosidase) deficiency

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17
Q

Fibrillary cytoplasm “crumpled tissue paper” appearance

Distended phagocytic cells in spleen liver BM thymus Peyers patches

A

Gaucher cells

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18
Q 
Autosomal recessive
a-L-Iduronidase deficiency 
With corneal clouding
More severe 
Coarse facial features, joint stiffness, mental retardation
A

Hurler syndrome

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19
Q

X linked
L- iduronosulfate deficiency
No corneal clouding

A

Hunter

Hunter X Hunter

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20
Q

Glucose 6 phosphatase deficiency
Decreased hepatic glucose output
Hypoglycemia

A 
GSD 1 (hepatic)
Von Gierke
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21
Q

Muscle phosphorylase deficiency
Decreased energy output
Myopathic glycogenosis

A

McArdle GSD V

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22
Q

Lysosomal acid maltase deficiency

Cardiomegaly and cardiac failure within first 2 years

A

Pompe disease GSD 2

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23
Q

All daughters are carriers

Males express phenotype

A

X linked disorders

24
Q

Most common chromosomal disorder

A

Trisomy 21

25
Q

Most common cause of Down syndrome

A

Nondisjunction of Ch21 during meiosis

26
Q

Most common leukemia associated with trisomy 21

A

Acute megakaryoblastic leukemia

27
Q

What distinguishes Patau from Edward syndrome in terms of manifestations?

A

Cleft lip and palate

Umbilical hernia

28
Q

Chromosome 22q11.2 deletion

A

DiGeorge

29
Q

CATCH 22 in DiGeorge

A 
Cardiac anomalies
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypocalcemia
30
Q

Persons with DiGeorge syndrome is also at high risk for

A

Schizophrenia

Bipolar disorder

31
Q

Important cause of reduced spermatogenesis and male infertility

A

Klinefelter syndrome

47XXY

32
Q 
Disorder of sex chromosome
Testicular atrophy
Micropenis
Absence of secondary sex characteristics
Gynecomastia
Low IQ
A

Klinefelter syndrome

33
Q

Most common heart defect in Klinefelter’s

A

Mitral valve prolapse

34
Q

Complete or partial monosomy of X chromosome

Single most important cause of primary amenorrhea

A

Turner syndrome

45XO

35
Q

Ovarian streaks
Absence of secondary sex characteristics
Short stature
Webbed neck

A

Turners

36
Q

Most important cause of increased mortality in children with Turners

A

Cardiovascular:
Preductal COA
Bicuspid aortic valve

37
Q

Mitral valve prolapse

A

Marfan

Klinefelter

38
Q

Disease worsens with each successive generation

A

Anticipation

39
Q

Second most common cause of MR after Trisomy 21

A

Fragile X syndrome

40
Q

Mutation in Fragile X

A

CGG expansion in FMR1 gene in the X chromosome

41
Q

Trinucleotide repeat disorder eith clinically long face, large mandible, large everted ears and marco orchidism

A

Fragile X

42
Q

Most distinctive feature of fragile X

A

Macro orchidism

43
Q

Autosomal dominant trinucleotide repeat with progressive movement disorders and dementia due to degeneration of striatal neurons

A

Huntington disease

AMELIAAAA 😭😭😭😭

44
Q

Mutation in Huntington disease

A

CAG expansion on HTT gene on Ch4p16.3

45
Q

Mitochondrial disorders have this distinctive feature

A

Maternal inheritance

46
Q

Silencing of one copy of gene from either parent during gametogenesis

A

Imprinting

47
Q

Deletion in paternally derived chromosome 15q

Mental retardation
Hypotonia, profound hyperphagia, obesity, hypogonadism, small hands and feet

A

Prader Willi

48
Q

Deletion in maternal chromosome 15q12

Mental retardation
Ataxic gait
Inappropriate laughter “ happy puppet”

A

Angelman syndrome

49
Q

Thrush
Diaper rash
Failre to thrive
Morbiliform rash due to graft bs host disease

A

SCID

50
Q

Hyper IgM sundrome is due to

A

CD40L absence or mutation in cytidine deaminase

51
Q

Hyper IgM syndrome can cause

A

Pyogenic infections, pneumocystis jiroveci

52
Q

Triad of wiskott aldrich syndrome

A

Thrombocytopenia
Infections
Eczema

53
Q 
Autosomal recessivr
ATM gene
Ataxia, vascular malformations, neurologic deficits
Increased incidence of tumors 
IgA and IgM deficiency
A

Ataxia telangiectasia

54
Q

Starch like misfolded proteins most commonly in the kidney
Amyloid deposits always extracellular
Congo red: apple green bifringence
Sago spleen

A

Amyloidosis

55
Q 
Defect in CFTR gene Ch7 q31.2
Salty sweat
Bronchiectasis, cirrhosis
Acidic secretions- chronic metabolic alkalosis
Pancreatic insufficiency 
Digital clubbing
Obstructive azoospermia
Increased sweat chloride concentration
A

Cystic fibrosis

56
Q

Most common organisms involved in secondary infections of cystic fibrosis

A

S. aureus
H. influenzae
P. aeruginosa

Patho (11 decks)

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