Genetics Flashcards
1
Q
chorionic villus testing at
A
12 weeks
2
Q
amniocentesis at
A
16 weeks
3
Q
x linked recessive disorders usually involve
A
enzyme deficiency
4
Q
what are the x linked recessive disorders
A
hemophilia A/B, G6PD, CGD, DuXchenne muscular dystrophy, NeXrophenic DI, Retinitis pigmenXosa, Androgen insensitivity, Wiskott Aldrich
5
Q
what are the chances of having a child with disease if mom is carrier of x-linked recessive disease
A
50% males affected, 50% females carriers (25% of all children carriers, 25% of all children affected)
6
Q
no male to male transmission if
A
x linked
7
Q
variable penetrance and variable expressivity in what mode of transmission
A
autosomal dominant
8
Q
autosomal dominant disease mnemonic
A
TAR MAN
9
Q
autosomal dominant diseases
A
Tuberous sclerosis Achondroplasia Retinoblastoma Marfan Apert and All porphyria Nail patella syndrome and Neurofibromatosis
10
Q
what rules out autosomal recessive transmission
A
vertical transmission through 3 generations
11
Q
what percent of unaffected offspring are carriers with autosomal recessive
A
2/3
12
Q
autosomal recessive disease
A
GAS HAT WAK P Galactosemia Alpha1 antitrypsin Sickle cell and Thalassemia Hurler Ataxia telangiectasia Tay Sachs Wilson Adrenogential syndrome Kartagener PKU
13
Q
heart defects with Turners
A
bicuspid aortic vale and coarctation of the aorta
14
Q
infant presentation w/ Turners
A
short 4th and 5th metacarpals, widely spaced nipples, lymphedema of hands and feet
15
Q
adolescent features of Turners
A
short stature, minimal breast development, primary amenorrhea
16
Q
added features of Turners
A
wide carrying angle of elbows, chronic otitis media, hyper convex nails, small mandible, high arched palate
17
Q
most common chromosomal defect in spontaneous abortions
A
45XO (turners)
18
Q
lab finding in Turner
A
elevated FSH
19
Q
Noonan syndrome features
A
precuts excavatum, webbed neck, pulmonic stenosis
20
Q
Noonan syndrome heart defect
A
pulmonic stenosis
21
Q
mutation in Marfans
A
chromosome 15 in the fibrillar gene
22
Q
major criteria to diagnose marfans
A
- dilatation/dissection of aortic root
- lumbosacral dural ectasia
- ectopia lensis
- four skeletal abnormalities
- family/genetic history
23
Q
homocystinuria lens
A
displaced downwards
24
Q
genetic disorders that increase w/ increasing maternal age
A
trisomies
25
2 ways trisomy 21 can arise
translocation or nondisjunction
26
is there increased risk of additional offspring w/ trisomy?
100% if parent w/ full translocation, 15% if partial translocation, normal risk if nondisjunction
27
most common abnormality in down syndrome
hypotonia
28
eye finding in down syndrome
brush field spots
29
heart findings in down syndrome
AV canal/endocardial cushion defects (causes EKG axis to be off)
30
Edward syndrome aka
trisomy 18
31
kidney problem trisomy 18
horseshoe kidney
32
trisomy 18 findings
clenched fists w/ hypo plastic nails, rocker bottom feet, prominent occiput and low set ears, horseshoe kidneys
33
patio syndrome aka
trisomy 13
34
punched out scalp lesions
trisomy 13
35
trisomy 13 features
BAD LUCK
Brain (holoprosencephaly and mid scalp lesions)
Airs (low set ears)
Digits (extra)
Leukocytes (nuclear projections in neutrophils)
Uterus (bicornuate w/ hypoplastic ovaries)
Cleft lip and palate
Kidneys (cystic)
36
consequence of trisomies increases as
chromosome # decreases (lower # chromosome = larger)
37
47 xxy
klinefelter
38
klinefelter features
infertile, small testes, socially awkward but normal intelligence, may have delayed motor/speech
39
cafe au last that indicates NF
6 or more that are 5 mm or bigger
40
happy puppet
angelman
41
angel man features
severe DD, speech impairment, ataxia, frequent laughter, easy excitability, acquired microcephaly and seizures
42
gene error for prader will and angelman
15q11-13 (genomic imprinting)
43
prader wili gene error
missing dads 15q11-13
44
angelmans gene error
missing mom's 15q11-13
45
contiguous gene malformations
prader wili, angelman, NF1, beckwith wiedmann and williams syndrome, DiGeorge
46
beckwith wiedmann syndrome error
alteration in chromosome 11 p15.5
47
Beckwith widmann features
hypospadias, omphalocele, macroglossia, microsomia, hypoglycemia, hemihypertrophy from islet cell hyperplasia
48
cocktail party personality
williams syndrome
49
williams syndrome features
elfin facies, wide spaced teeth, upturned nose, mild intellectual disability, hypercalcemia, supravalvular aortic stenosis
50
heart problem in Williams syndrome
supravalvular aortic stenosis
51
Digeorge syndrome error
22q11 deletion
52
digeorge syndrome aka
velocardialfacial syndrome
53
diverge syndrome features
```
CATCH-22
Cardiac defects (tetralogy of fallout)
Abnormal facies
Thymic aplasia and immunodeficiency
Cleft palate
Hypoparathyroidism and hypercalcemia
```
54
how to diagnose digeorge syndrome
chromosome microarray
55
diagnostic criteria for fetal alcohol syndrome
1. characteristic facies
2. deficient brain growth
3. prenatal and/or postnatal growth retardation
56
dysmorphology of fetal alcohol syndrome
flat philtrum, thin vermilion border of upper lip, mid face hypoplasia, short palpebral fissures
57
most common preventable cause of intellectual disability
fetal alcohol syndrome
58
most common genetic causes of intellectual disability
fragile X and down syndrome
59
maternal smoking results in
low birth weight, higher miscarriage, placental abruption, placenta prevue, IUGR, prematurity
60
anticonvulsant facies
broad bridge of nose, small anteverted nostril and long upper lip with fingernail hypoplasia
61
phenytoin exposure
finger stiffness and severe nail hypoplasia (funny toe'n)
62
carbamazepine exposure
facial and neural tube deformities
63
valproic acid exposure
facial and neural tube deformities
64
CHARGE association
```
Coloboma/cognitive defects
Heart disease
Atresia (choanal)
Retarded growth & development
GU abnormalities (genital hypoplasia)
Ear anomalies (hearing loss)
```
65
VACTER-L association
```
Vertebral defects
Anal atresia
Cardiac defects/VSD
TE fistula
Radial hypoplasia & Renal abnormalities
Limb abnormalities
```
66
VACTER-L association often presents as
single umbilical artery
67
craniosynostosis must be recognized prior to
5 months (before greatest head growth)
68
normal sutures but abnormal head
positional plagiocephaly (parallelogram shape)
69
positional plagiocephaly treatment
none
70
unilateral lambdoid synostosis
trapezoidal w/ contralateral frontal bossing
71
sagittal synostosis
dolichocephaly/scaphocephaly (long and skinny)
72
bilateral coronal synostosis
brachycephaly (short and wide)
73
metric synostosis
trigonocephaly
74
multiple suture synostosis
cloverleaf skull
75
cause of potter syndrome
renal agenesis (oligohydramnios sequence)
76
features of potter syndrome
1. pugilist facies
2. hypoplastic lungs
3. limb malformations (club feet)
4. renal agenesis
77
amnion nodosum
yellow nodules on skin w/ potter syndrome
78
what do those w/ potter syndrome ultimately die from
pulmonary complications
79
rubinstein-taybi syndrome
broad thumb, cryptorchidism
80
cause of prune belly syndrome
bladder outlet obstruction leading to oligohydramnios
81
Treacher collins features
conductive hearing loss, small jaw, ear abnormalities, lower eyelid abnormalities
82
rhizomelic shortening
shortening of the proximal part of the limb (achondroplasia)
83
most common cause of sudden death in achondroplasia
cervicomedullary junction compression
84
fragile x features
males w/ long narrow face w/ prominent forehead and protruding ears, high arched palate, strabismus, hyper flexible joints, macroorchidism, mild intellectual disability
85
most common single gene cause of autism
fragile x
86
fragile x testing
FMR1 DNA
87
rett syndrome features
toddler girl w/ regression of milestones, wringing hands and autistic like behavior
88
first sign in rents syndrome
decreased head growth at ~4months
89
Pierre robin sequence
cleft palate, micrognathia, posterior tongue, glossoptosis (tongue sticks out because chin so small) can lead to upper airway obstruction and therefore for pulmonale
90
heart defect in trisomy 18
VSD
91
williams syndrome error
microdeletion of elastin on long arm of chromosome 7
92
WAGR syndrome
Wilms tumor
Aniridia
GU malformations
Retardation
93
WAGR syndrome is due to absence of which genes
PAX6 and WT1 (wilms tumor 1)
94
Alagille error
20p12 deletion (mutation of JAG1 gene)
95
branchio-oto-renal syndrome
ear and kidney issues
96
which craniosynostosis is the most common
sagittal synostosis
97
broken bones and brain issues
OI type 3
98
broken bones but white sclera
OI type 4 (hallmark = tibial bowing)
99
wet chamois skin texture, wrinkled palms and soles, abnormal capillary fragility test w/ easy bruising
Ehler Danlos
100
cardiac problem in tuberous sclerosis
cardiac rhabdomyomas
101
infantile spasms has 50% risk of
tuberous sclerosis
102
Waardenburg syndrome
partial albinism, white forelock, premature graying, cochlear deafness, female may be born w/o vagina
103
single nail deformity
apert syndrome (mitten hand)
104
pancytopenia, hypoplastic thumb and radius, abnormal facies
fanconi anemia
105
hirsutism and micromeli in newborn
Cornelia delange
106
newborn that is large
sotos syndrome
107
accelerated growth w/ hemihypertrophy
proteus syndrome
