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Neonatal Board Questions > Genetics > Flashcards

Genetics Flashcards

(97 cards)

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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
Brushfield spots
T21 | speckled iris
26
cat like cry
Cri du chat (5p deletion)
27
Greek warrior helmet
Wolf Hirschhorn (4p deletion)
28
Widely spaced teeth, large mouth
Angelman
29
Inappropriate bursts of laughter
Angelman
30
CATCH 22
``` Cardiac Abnormal facies Thymic hypoplasia Cleft palate Hypoclacemia ```
31
Heart defect in 22q11.2 deletion
Aortic arch abnormalities | R sided aortic arch, IAA, truncus
32
Broad thumbs and first toes
``` Rubenstein Taybi syndrome (16p13.3) Apert syndrome (AD) ```
33
Heart defect in Wiliams syndrome
SupraValVular sub aortic stenosis > PPS
34
stellate iris pattern
Williams sx
35
Trident hands
Achondroplasia
36
MC cardiac defect in Noonan syndrome
dysplastic pulmonary valve | ASD, CM
37
Absent, hypoplastic or abnormally shaped thumbs
Holt Oram syndrome Fanconi VACTERL
38
Lens subluxation
Marfan (Upward) | Homocystinuria (Downward)
39
Wormian bones
OI | Menke's disease
40
Cloverleaf skull
Thanatorphic dysplasia
41
Mandibular and malar hypoplasia
Treacher Collins (TCOF1 gene, chromosome 5)
42
Telephone receiver femurs
Thanatorphic dysplasia
43
Lateral displacement of medial canthi
Waardenburg syndrome type 1 (PAX 3 gene)
44
White forelock, partial albinism
Waardenburg syndrome
45
Lateral displacement of inner canthus
Carpenter syndrome (AR)
46
Short distal extremities
Ellis van crevald
47
Occipital encephalocele
Meckel Gruber
48
2nd and 3rd toe syndactyly
Smith Lemli Opitz | Cornelia de Lange
49
Ulnar abnormalities
TAR syndrome
50
Large testes
Fragile X
51
Large ears
Fragile X
52
Abnormality of copper transport
Menkes disease
53
MC cardiac lesion in Klinefelter
MVP, tetralogy of Fallot, ASD, PDA
54
Disproportionately long arms and legs
Klinefelter syndrome | Marfan syndrome
55
MC cardiac lesion in Turner
Bicuspid aortic valve, Coarctation
56
Horseshoe kidney
Turner syndrome
57
CHARGE syndrome
``` Coloboma Heart disease Atresia of CHoanae Retarded growth and development Genital hypoplasia Ear Major criteria are: coloboma, Atresia, Ear and CN abnormalities ```
58
Coloboma
``` CHARGE Cat eye syndrome Deletion 13q Treacher collins Trisomy 13 ```
59
Large placenta with hydatiform changes
Triploidy
60
Synophrys
(Eyebrows joined in middle) | Cornelia de Lange
61
Long and curly eyelashes
Cornelia de Lange
62
Hirsutism
Cornelia de Lange
63
Micrognathia, glossoptosis, cleft palate
Pierre Robin sequence
64
Limited movement of head
Klippel Feil sequence
65
Unilateral hypoplasia or absence of pectorals muscle
Poland sequence
66
Small triangular facies
Russel silver syndrome
67
5p deletion
Cri du chat syndrome
68
4p deletion
Wolf Hisrschorn syndrome
69
Maternal 15q 11-13 deletion
Angelman syndrome
70
Paternal 15q 11-13 deletion
Prader Willi syndrome
71
deletion of elastin gene
Williams syndrome
72
FGFR3 gene
``` Achondroplasia (AD), Hypochondroplasia Thanatophoric dysplasia (AD)- all secondary to new mutations ```
73
FGFR2 gene
``` Apert syndrome (AD) Crouzon syndrome (AD) ```
74
CKN1C imprinting center
BWS (AD)
75
Fibrillin gene
Marfan syndrome (AD)
76
12q22
Noonan syndrome (AD)
77
Defect in type 1 collagen (COL1A)
OI
78
Defect in type 2 collagen (COL2A)
Stickler syndrome Achondrogenesis type II OI type 2
79
TCOF 1 gene
Treacher collins syndrome | Chromosome 5
80
PAX 3 gene
Waardenburg syndrome (AD)
81
Micropthalmia gene
Waardenburg syndrome (AD)
82
CGG repeats
Fragile X
83
47XXY
Klinefelter
84
Quadruplicate or triplicate at 22q11
Cat eye syndrome (vs Digeorge is deletion)
85
NIPBL gene
Cornelia de Lange (AD)
86
SMC1L1 gene
Cornelia de Lange (X-linked, milder)
87
Maternal uniparental disomy of chromosome 7
Russel Silver
88
Imperforate anus , dysplastic ears, thumb anomalies
Townes Brocks syndrome
89
SOX 9 mutation
Campomelic dysplasia
90
IFT gene mutation
Jeune asphyxiating thoracic dysplasia (AR)
91
Mutation in CHD7
CHARGE syndrome | Chromodomai helices DNA-binding protein 7
92
RNA polymerase binds to
Promoter (upstream of start site, close to the gene)
93
Enzyme responsible for transcription
RNA polymerase | DNA --> mRNA
94
Enzyme responsible for DNA replication
DNA polymerase
95
Cafe au lait spots
``` NF (smooth, coast of California) McCune Albright (jagged, coast of Maine) Legius syndrome LEOPARD sx TS Silver Russel syndrome ```
96
MC CHD with Holt Oram
ASD
97
MC CHD with Cornelia de Lange
VSD > TOF

Neonatal Board Questions (12 decks)

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