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Neonatal Board Questions > Genetics > Flashcards

Genetics Flashcards

1
Q

Southern Analysis

A

DNA probe to digested DNA

SNOW DROP

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2
Q

Northern Analysis

A

DNA probe to digested RNA

SNOW DROP

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3
Q

Western Analysis

A

Antibody probe to protein of interest

SNOW DROP

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4
Q

Excised out to make mature RNA

A

Intron (Exon stays)

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5
Q

Affected father transmits carrier state to all of his daughters

A

X-linked recesive

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6
Q

Disease 2x more common in females than males

A

X-linked dominant

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7
Q

Affected father transmits disease to all of his daughters

A

X-linked dominant

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8
Q

Affected mother has 50% chance passing disease to sons or daughters

A

X-linked dominant

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9
Q

Which has higher recurrence risk? Syndrome or association

A

Association

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10
Q

Increased risk with advanced paternal age

A 
Achondroplasia
OI
Thanatrophic dysplasia
Apert syndrome
Crouzon syndrome
NF
Klienefleter and T21 slight increase
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11
Q

Arachnodactyly

A

(Long, spider like fingers)

Homocystinuria, Marfan syndrome

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12
Q

Camptodactyly

A

(Flexed digits, usually proximal 5th finger )

Trisomy 8 or isolated

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13
Q

Cystic hygroma

A

Noonan syndrome & turner

Also deletion 13q, 13, 18, 21

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14
Q

Hypotelorism

A

Holoprosencephaly
Meckel-Gruber
Williams
Trisomy 13

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15
Q

Limb hypertrophy

A

BWS, Klippel Trenauney Weber syndrome

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16
Q

Lips, thick and or prominent

A

Trisomy 8
WAGR sx
Williams sx

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17
Q

Hypogenitalia

A

Carpenter
Klinefelter
Prader Willi
Smith Lemli Opitz

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18
Q

Macroglossia

A

BWS
Congenital hypothyroidism
T21

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19
Q

Radial hypoplasia

A 
Fanconi
TAR (T for Thumbs always present)
VACTERL
Holt Oram
Cornelia de Lange
Poland Sequence
T13 and 18
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20
Q

Prominent cupped ears

A

Trisomy 8

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21
Q

Cutis aplasia

A

T13

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22
Q

overlapping of 2nd finger over 3rd and 5th over 4th

A

T18

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23
Q

MC heart defect in T21

A

Endocardial cushion defect

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24
Q

Hypoplastic middle phalanx in 5th digit

A

T21

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25
Q

Brushfield spots

A

T21

speckled iris

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26
Q

cat like cry

A

Cri du chat (5p deletion)

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27
Q

Greek warrior helmet

A

Wolf Hirschhorn (4p deletion)

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28
Q

Widely spaced teeth, large mouth

A

Angelman

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29
Q

Inappropriate bursts of laughter

A

Angelman

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30
Q

CATCH 22

A 
Cardiac
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoclacemia
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31
Q

Heart defect in 22q11.2 deletion

A

Aortic arch abnormalities

R sided aortic arch, IAA, truncus

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32
Q

Broad thumbs and first toes

A 
Rubenstein Taybi syndrome (16p13.3)
Apert syndrome (AD)
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33
Q

Heart defect in Wiliams syndrome

A

SupraValVular sub aortic stenosis > PPS

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34
Q

stellate iris pattern

A

Williams sx

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35
Q

Trident hands

A

Achondroplasia

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36
Q

MC cardiac defect in Noonan syndrome

A

dysplastic pulmonary valve

ASD, CM

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37
Q

Absent, hypoplastic or abnormally shaped thumbs

A

Holt Oram syndrome
Fanconi
VACTERL

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38
Q

Lens subluxation

A

Marfan (Upward)

Homocystinuria (Downward)

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39
Q

Wormian bones

A

OI

Menke’s disease

40
Q

Cloverleaf skull

A

Thanatorphic dysplasia

41
Q

Mandibular and malar hypoplasia

A

Treacher Collins (TCOF1 gene, chromosome 5)

42
Q

Telephone receiver femurs

A

Thanatorphic dysplasia

43
Q

Lateral displacement of medial canthi

A

Waardenburg syndrome type 1 (PAX 3 gene)

44
Q

White forelock, partial albinism

A

Waardenburg syndrome

45
Q

Lateral displacement of inner canthus

A

Carpenter syndrome (AR)

46
Q

Short distal extremities

A

Ellis van crevald

47
Q

Occipital encephalocele

A

Meckel Gruber

48
Q

2nd and 3rd toe syndactyly

A

Smith Lemli Opitz

Cornelia de Lange

49
Q

Ulnar abnormalities

A

TAR syndrome

50
Q

Large testes

51
Q

Large ears

52
Q

Abnormality of copper transport

A

Menkes disease

53
Q

MC cardiac lesion in Klinefelter

A

MVP, tetralogy of Fallot, ASD, PDA

54
Q

Disproportionately long arms and legs

A

Klinefelter syndrome

Marfan syndrome

55
Q

MC cardiac lesion in Turner

A

Bicuspid aortic valve, Coarctation

56
Q

Horseshoe kidney

A

Turner syndrome

57
Q

CHARGE syndrome

A 
Coloboma
Heart disease
Atresia of CHoanae
Retarded growth and development
Genital hypoplasia
Ear
Major criteria are: coloboma, Atresia, Ear and CN abnormalities
58
Q

Coloboma

A 
CHARGE
Cat eye syndrome
Deletion 13q
Treacher collins
Trisomy 13
59
Q

Large placenta with hydatiform changes

60
Q

Synophrys

A

(Eyebrows joined in middle)

Cornelia de Lange

61
Q

Long and curly eyelashes

A

Cornelia de Lange

62
Q

Hirsutism

A

Cornelia de Lange

63
Q

Micrognathia, glossoptosis, cleft palate

A

Pierre Robin sequence

64
Q

Limited movement of head

A

Klippel Feil sequence

65
Q

Unilateral hypoplasia or absence of pectorals muscle

A

Poland sequence

66
Q

Small triangular facies

A

Russel silver syndrome

67
Q

5p deletion

A

Cri du chat syndrome

68
Q

4p deletion

A

Wolf Hisrschorn syndrome

69
Q

Maternal 15q 11-13 deletion

A

Angelman syndrome

70
Q

Paternal 15q 11-13 deletion

A

Prader Willi syndrome

71
Q

deletion of elastin gene

A

Williams syndrome

72
Q

FGFR3 gene

A 
Achondroplasia (AD), Hypochondroplasia
Thanatophoric dysplasia (AD)- all secondary to new mutations
73
Q

FGFR2 gene

A 
Apert syndrome (AD)
Crouzon syndrome (AD)
74
Q

CKN1C imprinting center

75
Q

Fibrillin gene

A

Marfan syndrome (AD)

76
Q

12q22

A

Noonan syndrome (AD)

77
Q

Defect in type 1 collagen (COL1A)

78
Q

Defect in type 2 collagen (COL2A)

A

Stickler syndrome
Achondrogenesis type II
OI type 2

79
Q

TCOF 1 gene

A

Treacher collins syndrome

Chromosome 5

80
Q

PAX 3 gene

A

Waardenburg syndrome (AD)

81
Q

Micropthalmia gene

A

Waardenburg syndrome (AD)

82
Q

CGG repeats

83
Q

47XXY

A

Klinefelter

84
Q

Quadruplicate or triplicate at 22q11

A

Cat eye syndrome (vs Digeorge is deletion)

85
Q

NIPBL gene

A

Cornelia de Lange (AD)

86
Q

SMC1L1 gene

A

Cornelia de Lange (X-linked, milder)

87
Q

Maternal uniparental disomy of chromosome 7

A

Russel Silver

88
Q

Imperforate anus , dysplastic ears, thumb anomalies

A

Townes Brocks syndrome

89
Q

SOX 9 mutation

A

Campomelic dysplasia

90
Q

IFT gene mutation

A

Jeune asphyxiating thoracic dysplasia (AR)

91
Q

Mutation in CHD7

A

CHARGE syndrome

Chromodomai helices DNA-binding protein 7

92
Q

RNA polymerase binds to

A

Promoter (upstream of start site, close to the gene)

93
Q

Enzyme responsible for transcription

A

RNA polymerase

DNA –> mRNA

94
Q

Enzyme responsible for DNA replication

A

DNA polymerase

95
Q

Cafe au lait spots

A 
NF (smooth, coast of California)
McCune Albright (jagged, coast of Maine)
Legius syndrome
LEOPARD sx
TS
Silver Russel syndrome
96
Q

MC CHD with Holt Oram

97
Q

MC CHD with Cornelia de Lange

Neonatal Board Questions (12 decks)

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