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Genetics Flashcards

1
Q

where is the promotor located

A

5’ to a specific gene
RNA polymerase bdings

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2
Q

differences between southern
northern and western analysis

A

southern - DNA digested - labeled DNA probe
northern - RNA digested - labered DNA probe
western - protein probe

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3
Q

dot blot vs reverse dot blot

A

dot blot: DNA region amplified applied to membrane + probe of single mutation

reverse: allele specific NTs applied to membrane + denatured DNA; hydridization detected

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4
Q

FISH useful for

A

trisomy 13, 18, 21
Prader-willi/Angelman
criduchat
digeorge
miller dieker
williams
4p

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5
Q

comparative genomic hybridization

A

identify number of copies of gene to determine if gain or loss

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6
Q

microarray expression analysis

A

gene over or underexpressed

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7
Q

mutation microarray analysis

A

identify mutations or polymorphisms in gene

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8
Q

targeted mutation analysis

A

detect known sequence of triplet repeat expansion

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9
Q

robertsonian translocation

A

long arms of 2 different chromosomes fuse at centromere and very short arms are lost

can only happen with 13, 14, 15, 21 and 22

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10
Q

MCC robertsonian translocation

A

chr 21 and 14

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11
Q

Lyon hypothesis

A

inactive X forms barr body

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12
Q

AR song

A

alpha beta, PKU
iron, copper, bern-sou
Hartnup glanzmann fanconi
AR yes its true

21OH def, congenital muscular dystrophy
CF
IEM

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13
Q

AD song

A

von von ALS, Rb MEN
Tubes & spheres and &huntingtons
Marfan, Ehler’s Dan
NF1 and 2 don’t FAP too much
Autosomal Dominant yes this song is clutch

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14
Q

XLR

A

the OTC bitsy Hunter’s name was Lesch Fabry
he shot the Menke WASP and G6P
up came Bruton what a Douchey guy
A & B are XL dont forget DI

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15
Q

uniparental disomy

A

loss of function in a gene that requires 1 from each parent

prader willi and angelman due to 15q region

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16
Q

associated with AMA

A

klinefelter
trisomy 13, 18, 21

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17
Q

associated with advanced paternal age

A

achondroplasia
apert
crouzon
NF
OI
thanatophoric dysplasia
klinefelter/tri21

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18
Q

most cardiac lesions occur more in males aside from

A

ASD and PDA

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19
Q

recurrence risk cardiac defect

A

1 child –> 3-4%
2 children –> 10%

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20
Q

recurrence risk cleft lip

A

1 child and 1 unaffected parent - 4-5%
1 child and 1 affected parent - 10%

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21
Q

recurrence risk cleft palate

A

1 child - 2-6%

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22
Q

recurrence risk club foot

A

1 child - 2-5%
1 child and 1 parent - 25%

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23
Q

recurrence risk DDH

A

1 child - 3-4% (0.5% if M, 6% if F)

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24
Q

recurrence risk Hirshsprung

A

1 child 3-5%

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25
Q

recurrence risk NT defect

A

1 child 3-5 %

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26
Q

recurrence risk pyloric stenosis

A

1 mother- 19% son 7% daughter
1 father- 5.5% son 2.4% daughter
1 child - 3% (4% brother, 2.4% sister)

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27
Q

recurrence risk trisomy 21

A

mother with balanced translocation - 10-15%
father with balance translocation - 5%
prior child tri21; parents no translocation - 1%

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28
Q

Hardy Weinberg

A

p + q = 1
p^2 + 2pq + q^2 = 1

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29
Q

trisomy 8

A

camptodactyly
thick lips
deep eyes
cupped ears
hip dysplasia
MR

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30
Q

trisomy 13

A

80% from maternal origin

midline defects
VSD > PDA
cutis aplasia
narrow hyperconvex fingernails
cleft lip/palate
small eyes
umbilical/inguinal hernia
holoprosencephay
fetal HgB
increased neutrophils with nuclear projections

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31
Q

trisomy 18

A

95% of maternal origin

VSD, PDA
clenched hand
rocker bottom feet
small mouth
cryptorchidism

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32
Q

trisomy 21

A

MCC nondisjunction - maternal
75% born to those < 35 due to high reproductive rate
endocardial cushion defect
hypothyroid
hyperflexible
upslanting palpebral fissures
hypotonia improves with ages

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33
Q

cri du chat

A

del 5p paternal
hypertelorism
downward palpebral fisssues
MR
FTT cat like cry - abnormal laryngeal development

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34
Q

del 13q

A

thumb hypoplasia
retinoblastoma
coloboma
microcephaly
high nasal bridge
cryptorchidism

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35
Q

Wolf Hirshorn

A

del 4p 87% denovo
greek warrior helmet
broad beaked nose
hyperteleroism
low ears with preauricular dimble
microcephaly
seizures

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36
Q

Angelman

A

70% of deletion of 15q maternal origin

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37
Q

22q11.2; defect in what arches?

A

digeorge
defect in 4th branchial arch and derivatives of the 3rd and 4th pharyngeal pouch

AD

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38
Q

what is most common chromosome deletion?

A

22q11.2

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39
Q

prader- willi

A

75% deletion 15q11-13 of paternal origin

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40
Q

testing progression for angelman or prader willi

A

chromosomal - FISH - polymorphic genetic markers - imprinting center

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41
Q

Rubenstein-Taybi

A

16p13.3 - cAMP regulated enhancer binding protein
broad thumbs, broad first toe
downward slanting palpebral fissures
hypoplastic maxilla
narrow palate
beaked nose
hirsutism/synorphys
FTT

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42
Q

WAGR

A

wilms tumor
aniridia
genitourinary
retardation

11p13 del denovo

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43
Q

williams

A

7q11.23 del – elastin gene – sporadic
supravalvar subaortic stenosis > PPS
hypoplastic nails
prominent lips, hoarse voice
stellate iris

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44
Q

achondroplasia

A

80-90% de novo
AD FGFR3 gene
trident hands
depressed nasal bridge
megalocephaly
narrow spinal cord
normal IQ

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45
Q

apert vs crouzon

A

both = AD, FGFR2 mutations

Apert = midface hypoplasia, broad thumb and toe/syndactyly
irregular craniosynostosis
MR more common

Crouzon = maxillary hypoplasia, premature craniosynostosis - coronal/lamboid/sagittal
MR less common

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46
Q

Beckwith Wiedemann genetics

A

11p15.5 region
50% hypomethylation of centromeric imprinting center
10% mutation CKN1C

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47
Q

Beckwith Wiedemann symptoms

A

macroglossia
linear earlobe fissures
exophthalmos
macrosomia
organ hyperplasia
fetal adrenocortical cytomegaly
wilms and hepatoblastoma (monitor every 3 months abdominal US until age 7)

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48
Q

Marfan symptoms

A

dilated aorta (yearly echo, beta blockers to reduce risk, abx for dentist)
arachnodactyly
hyperextensibility
scoliosis
lens subluxed UP

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49
Q

Holt Oram genetics and symptom

A

AD
12q2
ASD; upper limb defects

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50
Q

Marfan genetics

A

AD
fibrillin 15q21.1

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51
Q

Noonan genetics

A

sporadic AD
12q22

52
Q

Noonan symptoms

A

dysplastic PV
pectus
webbed neck
cryptorchidism
abnormal coagulopathy

53
Q

OI inheritance and types

A

AD
type 1 collagen

types:
1, sclera blue, fractures, deaf, wormian bones in cranial sutures
2. sclera blue, fractures, short and broad long bones, still born/die early - respiratory failure
3. blue sclera that normalizes, fractures at birth, IUGR, deaf
4. normal/gray sclera, bone deformities, abnormal dentition

54
Q

Stickler genetics and symptoms

A

AD
type II collagen COL2a
12q13.11-q13.2

flat facies
myopia
deaf
spondyloepiphyseal dysplasia
mitral valve prolapse

55
Q

thanatophoric dysplasia

A

AD
FGFR3 (4p16.3); extracellular or intracellulary tyrosine kinase domain

type 1 - more common, curved long bones, flat vertebral bodies

type 2 - straight femoral, tall vertebral bodies, clover leaf skull

narrow thorax, short limbs

56
Q

treacher collins

A

AD
TCOF1 chr 5; 1/2 branchial arch

lower eyelid coloboma
down palpebral fissures
mandibular hypoplasia
dysmorphic ears
malar hypoplasia
Conductive hearing loss
normal intelligence

57
Q

waardenburg

A

AD

  1. AD PAX3 2q35 lateral displacement of medial canthi, deaf
  2. AD, microphthalmia gene 3p12.3-p14.1 normal canthi, deaf
  3. AD, upper limb defects
  4. AD/AR + Hirschsprung

pigmentary abnormalities: white forelock, partial albanism

58
Q

Carpenter

A

AR
polydactyly
lateral displacement of inner canthus
brachycephaly
MR
FTT

59
Q

Ellis van-Creveld

A

AR
short distal extremities
polydactyly
nail/teet
short
narrow thorax
normal IQ

60
Q

Fanconi pancytopenia

A

AR
chromosomal breaks in lymphocytes and AF cells

hyperpigmentation
radial/thumb hypoplasia
pancytopenia

61
Q

Meckel-Gruber

A

AR 17q21-q24

polydactyly
microophthalmia
occipital encephalocele
cystic kidneys

62
Q

Smith Lemli Optiiz

A

AR
cholesterol synthesis defect –> low cholesterol and elevated 7dehydrocholesterol

2nd and 3rd toe syndactyly
anteverted nares
hypogenitalia
MR
FTT

high mortality

63
Q

TAR

A

AR

thyrombocytopenia
absent radii bilateral
thumb present
ulnar abnormalities
40% mortality - hemorrhage

64
Q

Fryns Syndrome

A

AR

CDH
hirshprung
duodenal atresia
neuro abnormalities
coarse facies

65
Q

Fragile X

A

XL dominant 80% penetrance in males 30% in females

triple repeat of CGG > 60 repeats
long face and ears, large testes, MR, cluttered speech
hyperextensible fingers

66
Q

Menkes

A

XLR

copper deficiency
twisted fractured hair - lose pigmentation at 6 weeks
pudgy face
progressive cerbral deterioration
seizures
wormian bones
fractures - lateral spur formation

early death in infancy

67
Q

Klinefelter

A

47XYY
hypogonadism
gynecomastia - atrophy seminiferous tubules
behavioral difficulty
germ cell tumors

68
Q

turner

A

45X
chromosome deleted is usually paternal
cubitus valgus
cystic hygroma
webbed neck
gonadal dysgenesis
horseshoe kidney
lymphedema
gonadoblastoma

69
Q

Cornelia de Lange symptoms

A

micromelia
synorphys
thin down turning upper lip
long curly eyelashes
hypertonicity
microbrachycephaly
hirsuitism
low posterior hairline

70
Q

CHARGE

A

mutation in chromodomain helicase DNA binding gene 7 (CHD7) chr 8q12 –> altered chromatin
AD

Coloboma
Heart
Atresia of choanae
Retarded growth
Genital hypoplasia
Ear

71
Q

Cat-eye

A

chr 22 extra part
22q11 triplicate/quadruplicate (instead of deletion in digeorge)

TAPVR, persistent L SVC
down palpebral fissures
anal atresia + rectovestibular fistula
coloboma of iris

72
Q

triploidy

A

69XXY

large placenta with hydatiform changes
IUGR
3rd and 4th syndactyly

73
Q

Cornelia de Lange genetics

A

mutation in 1 of 3 cohesin genes
1. NIPBL 5p13
2. SMC1L1 - Xp11.22
3. SMC3 - 10q25

74
Q

Mobius

A

sequence
6th and 7th palsy

4 types:
1. destruction of central brain nuclei
2. hypoplasia or absence of central brain nuclei
3. peripheral nerve
4. myopathy

expressionless facies
micrognathia
talipes equinovarus

75
Q

Goldenhar

A

unknown
1st and 2nd branchial arch
VSD
deaf
normal IQ
hemivertebrae
midface hypoplasia

76
Q

klippel feil

A

unknown, sporadic
defect of cervical vertebrae
short neck
low hairline
limited head movement
deaf
sprengel deformity

77
Q

klippel trenaunay weber

A

unknown;sporadic

asymmetric limb hypertrophy
vascular lesions

78
Q

poland sequence

A

unknown; sporadic
proximal subcalvian arterial disruption in utero > poorly developed distal limbs

dextrocardia
unilateral hypoplasia or absence of pectoralis muscle
rib anomalies

79
Q

russell silver

A

sporadic; chr 7?

small triangular facies
short
asymmetry of skeleton
5th finger clinodactyly
excess head and upper trunk sweating
late closure of AF

80
Q

VACTERL

A

vertebral
anorectal
cardiac (VSD > Tof, CoA)
TEf
renal
limb (U>L, radial > ulnar)
- hydrocephalus (aqueductal stenosis)

81
Q

arachnodactyly

A

homocystinuria
marfan

82
Q

camptodactyly

A

isolated
tri 8

83
Q

cleft lip or palate

A

charge
digeorge
meckel gruber
pierre robin
smith lemli opitz
tri 13

84
Q

clinodactyly

A

carpenter
cornelia de lange
del 13q
klinefelter
rubenstein taybi
trisomy 21
holt oram
prader willi

85
Q

coloboma

A

cat eye - iris
charge - retina
del 13q
treacher collins - eyelid
tri 13 -iris

86
Q

cystic hygroma

A

noonan
turner
del 13q
tri 13, 18, 21

87
Q

ocular hypertelorism

A

apert
cat-eye
criduchat
crouzon
del 13q
digeorge
noonan
tri 8
turner

88
Q

hypotelorism

A

holoprosencephay
meckel gruber
williams
trisomy 13

89
Q

limb hypertrophy

A

beckwith
klippel tranauney weber

90
Q

lips prominent

A

tri 8
wagr
williams

91
Q

hypogenitalia

A

carpenter
klinefelter
prader willi
smith lemli opitz

92
Q

macroglossia

A

beckwith
congenital hypothyroid
tri 21

93
Q

micrognathia

A

pierre robin
cat eye
charge
cornelia de lange
del 13q
digeorge
marfan
meckel gruber
mobius
russel silver
smith lemli
tri 8 and 18
wagr

94
Q

polydactyly

A

carpenter
ellis van creveld
isolated
meckel gruber
tri 13
vacterl

95
Q

radial hypoplasia

A

fanconi
tar
vacterl

96
Q

syndactyly

A

apert
carpenter
cornelia
isolated
poland
smith lemli
tri 21
vacterl

97
Q

rhizomelia

A

short proximal long bones
achondroplasia

98
Q

mesomelia

A

short distal long bones
mesomelic dysplasia

99
Q

micromelia

A

short proximal and distal long bones

achondrogenesis
short rib polydactyly
diastrophic dysplasia
OI type II

100
Q

acromelia

A

small hands or feet

ellis van creveld

101
Q

talipes

A

foot deformity

102
Q

varus

A

inward

103
Q

valgus

A

outward

104
Q

equinus

A

downward

105
Q

calcaneus

A

upward with heel downward

106
Q

metatarsus adductus

A

medial deviation of metatarsal bones
c shaped lateral border of foot

107
Q

talipes equinovarus

A

club foot
higher in hispanics
inversion and adduction of forefoot + inversion of heel, equinus of ankle, internal rotation

108
Q

calcaneovalgus

A

flexible down and out appearance of foot, extreme dorsiflexion

109
Q

congenital vertical talus

A
  • rocker bottom foot
110
Q

lethal skeletal dysplasias

A
  • achrondrogenesis type 2: collagen 2
  • congenital hypophasphatasia severe type: tissue non specific alk phos
  • OI type 2: collagen 1 or 2
  • short rib dysplasia
    –ellis van creveld; ellis van creveld genes 1 and 2
    – Jeune = IFT gene
  • thanatophoric dysplasia = FGFR3
111
Q

nonlethal skeletal dysplasias

A
  • achondroplasia
  • campomelic dysplasia
  • chondrodysplasia punctate
  • stickler
112
Q

what supplement helps PKU

A

5-Hydroxytryptophan

113
Q

what is deficient in PKU

A

tyrosine

114
Q

Pfeiffer clinical findings

A

brachycephaly
maxillary hypoplasia
hypertelorism
prognathism
broad thumbs
great toes, and syndactyly in both hands of second and third digits

115
Q

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

A
  • XLD
  • ipsilateral hypoplasia of the limbs, facial hemidysplasia, and hypoplasia of various organ systems
  • unilateral erythematous scales with clear midline demarcation that tend to improve with age
  • Stippled calcification of the epiphysis
116
Q

Phocomelia

A

fully formed hands attached to his trunk at the shoulder and craniofacial defects

ESCO2 gene AR

117
Q

Congenital myotonic dystrophy (CMD) genetics

A
  • AD
  • 3’ noncoding DMPK gene
  • chr 19q13.3
  • CTG repeat
  • splicing of CUG binding protein (CUG-BP) and Musclebind-like protein (MBNL)
118
Q

Smith Lemli Opitz enzyme defect

A

7-dehydrocholesterol reductase

119
Q

Legius syndrome

A

AD; SPRED1 gene
similar to NF1 without other significant neurocutaneous findings has:
* cafe au lait
* axillary freckling
* macrocephaly
* learning disability

120
Q

what is a contiguous gene disorder?

A

deletion or duplication that affects several genes lying in close proximity to each other
i.e. Angelman

121
Q

transient neonatal diabetes mellitus genetics

A

imprinting defect chr 6`

122
Q

genetic test to confirm uniparental disomy

A

Single nucleotide polymorphism microarray

123
Q

lactate elevation in NEC causes:

A

L lactate from tissue hypoxia
D lactate from production by enteric bacteria

124
Q

how many de novo single nucleotide variants does each person have?

A

average 74

125
Q

MC imprinting disorder

A

Beckwith Wiedemann

126
Q

Jeune a.w which other organs

A

renal disease
pancreatic and hepatic fibrosis
hirshprung

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