Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pedia > Genetic Disorders, Misc + CDB > Flashcards

Genetic Disorders, Misc + CDB Flashcards

1
Q

Ataxia, nystagmus, kyphoscoliosis, pes cavus

A

Friedreich ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Friedrich ataxia, gene affected

A

Frataxin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Friedrich ataxia, chromosome

A

9

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

MC congenital neuropathy

A

Charcot-Marie-Tooth Disease (CMT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Hammer toes

A

Charcot-Marie-Tooth Disease (CMT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Peroneal muscular atrophy, foot drop, high-arched foot, stork legs

A

Charcot-Marie-Tooth Disease (CMT)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Genetic disease classification in which every generation in the population is affected

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Genetic disease classification in which every generation in the population is affected that skips generations (often grandparents has had a similar condition

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Genetic diseases whose risk is increased by consanguinity

A

Autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Genetic disease classification in which only males are affected; females are unaffected or only partially affected (due to lyonization) carriers of the trait

A

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

A neurocutaneous syndrome affecting many organs, including the cerebellum, spinal cord, medulla, retina, kidneys, pancreas, and epididymis

A

von Hippel–Lindau Disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

von Hippel–Lindau Disease, major neurologic manifestations

A

1) Cerebellar hemagioblastomas 2) Retinal angiomata

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Most common cause of death associated with von Hippel–Lindau disease

A

Renal cell CA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

MC kidney CA

A

Clear cell CA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

􏱄 Telangiectasia
􏱄 Ataxia
􏱄 Variable immunodeficiency
􏱄 Autosomal recessive

A

Ataxia telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Earliest site of telangiectasia in ataxia–telangectasia

A

Bulbar conjunctivae

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Choreoathetosis, progressive cerebellar ataxia, chronic sinopulmonary infection, increased risk of malignancy

A

Ataxia telangiectasia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Elevated in serum of patients with ataxia telangiectasia

A

α-fetoprotein + carcinoembryonic antigen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Microcephaly is defined as

A

Head circumference > 3 standard deviations below the mean

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Macrocephaly is defined as

A

Head circumference > 3 standard deviations above the mean

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Microcephaly, mental retardation, high-pitched

crying likened to that of a meowing kitten

A

Cri du chat syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Cri du chat syndrome, Mutation

A

Deletion of 5p (short arm of chromosome 5)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Male hypogonadism due to the presence of two or more X chromosomes and one or more Y chromosomes

A

Klinefelter syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Most common genotype of Klinefelter

A

47 XXY (meiotic nondisjunction)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Hormonal derrangement in Klinefelter

A

Increased level of follicle-stimulating hormone

(FSH) and LH decreased level of testosterone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

T/F Klinefelter syndrome, most have normal intelligence

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

T/F Klinefelter syndrome, increased risk for breast carcinoma

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

T/F Klinefelter, sterility

A

T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Klinefelter habitus

A

Eunuchoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Risk factor for Klinefelter

A

Advanced maternal age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Barr body

A

Klinefelter

32
Q

T/F Klinefelter, administration of testosterone during puberty to improve secondary sex characteristics

A

T

33
Q

Pterygium colli

A

Webbed neck

34
Q

􏱄 Short stature
􏱄 Phenotypically female
􏱄 Pterygium colli
􏱄 Increased distance between nipples (shield chest)

A

Turner’s Syndrome

35
Q

Genotype of Turner’s Syndrome

A

45 XO [Think hugs and kisses from Tina Turner]

36
Q

T/F Turner’s Syndrome is related to advanced maternal age

A

F

37
Q

Cardiac anomaly associated with Turner

A

Coarctation of aorta

38
Q

Ovaries in Turner

A

Ovarian dysgenesis (streak gonads)

39
Q

Most common cause of primary amenorrhea

A

Turner’s syndrome

40
Q

Multiple neck cysts

A

Cystic hygroma

41
Q

Cystic hygroma is associated with what chromosomal abnormality

A

Turner syndrome

42
Q

Horseshoe kidney is associated with what chromosomal abnormality

A

Turner syndrome

43
Q

Short fourth metacarpal is associated with what chromosomal abnormality

A

Turner syndrome

44
Q

Male counterpart of Turner

A

Noonan

45
Q

Cardinal feature of Turner

A

Short stature

46
Q

MC sex chromosomal abnormality in females

A

Turner syndrome

47
Q

􏱄 Pigmented nevi
􏱄 Cubitus valgus
􏱄 Impaired hearing
􏱄 Lymphedema of hands and feet

A

Turner syndrome

48
Q

Obesity, small stature, hyperphagia, mental retardation, microcephaly, behavioural problems, OC [think small fat kid with a small head who is dumb and always eating]

A

Prader-Willi syndrome

49
Q

Paternal deletion of chromosome 15 (15q11) → q13

A

Prader-Willi syndrome [Prader sounds like Father]

50
Q

Maternal deletion of chromosome 15 (15q11) → q13

A

Angelman syndrome

51
Q

Factors leading to obesity in Prader-Willi syndrome

A

Hyperphagia/lack of satiety, decreased caloric requirement secondary to hypotonia/decreased movement, and obsessions/compulsions that focus on food

52
Q

___ is the key to quality and quantity of life in Prader-Willi syndrome

A

Early prevention of obesity

53
Q

Happy, laughing disposition—previously known as the “happy puppet” or “marionette joyeuse” syndrome, because of this and stereotyped flap- ping of hands

A

Angelman syndrome

54
Q

Often strikingly attractive children with lighter pigmentation than other family members (often blond-haired, blue-eyed) but with complete absence of speech

A

Angelman syndrome

55
Q

MC X chromosome abnormality in women

A

47, XXX (maternal meiotic nondisjunction)

56
Q

MC cause of death in Prader-Willi syndrome

A

Complications of obesity

57
Q

Hemihypertrophy, macroglossia, visceromegaly, facial nevus flammeus, earlobe creases

A

Beckwith-Wiedemann syndrome

58
Q

Pediatric neoplasm associated with Beckwith-Wiedemann syndrome

A

Wilms tumor

59
Q

Macroglossia

A

Downs, hypothyroidism, beckwidth-wiedemann

60
Q

Trisomy 18

A

Edwards syndrome [THINK 18 is the age when you can vote, E-lect]

61
Q

rocker bottom feet, micrognathia, overlapping 4th and 5th fingers, death 1st yr birth

A

Edwards syndrome

62
Q

MC heart disease in Edwards syndrome

A

VSD

63
Q

Trisomy 13

A

Patau’s syndrome [THINK 13 is the age of P-uberty]

64
Q

microphthalmia, microcephaly, poldactyly, holoprosencephaly (one hemisphere), death w/in one year

A

Patau’s syndrome

65
Q

MC genetic mental retardation

A

Fragile X syndrome

66
Q

large jaw, large testes, large ears, autistic behavior

A

Fragile X syndrome

67
Q

Trisomy 21

A

Down [THINK 21 is the age when you can D-rink alcohol]

68
Q

Chromosome 21 encodes two of the three proteins needed to assemble the triple helix of collagen ___, which is found to be abnormal in people with Down’s syndrome

A

VI

69
Q

Every patient with Down’s must have a cervical spine x-ray before being cleared to participate in sports, due to risk of ___.

A

Atlantoaxial dislocation

70
Q

GI abnormalities associated with Down

A

Duodenal atresia, imperforate anus, Hirschprung

71
Q

MC cancer in Down

A

Leukemia (ALL, AML)

72
Q

Camptodactyly (little finger fixed in flexion) is seen in

A

Edwards

73
Q

Cardiac anomaly seen in Edwards

A

Redundancy of cardiac valve leaflets

74
Q

MCC od death in Edwards

A

Apnea

75
Q

Patau
􏰂 75% complete trisomy
􏰂 23% ___ translocation (to chromosome 14)

A

Robertsonian

76
Q

what is the most common congenital heart defect in down syndrome

A

endocardial cushion defect of atrioventricular canal

Pedia (13 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions