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MFM Oral Boards 2020 > Genetic Conditions- ABC > Flashcards

Genetic Conditions- ABC Flashcards

1
Q

Autosomal Dominate

A 
Marfan
Neurofibromatosis
Achondropasia (homgygote lethal)
Polycystic kidney 
Ectrodactyly
Tuberous Sclerosis
Digeorge (22q11.2)
Huntington
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2
Q

Autosomal Recesive- main genetic syndromes

A 
Cystic Fibrosis
Sickle Cell Disease
Tay-Sachs
SMA
Hemachromotosis (looks autosomal dominate - carrier frequency is very high)
Lysosomal storage conditions
congenital adrenal hyperplasia
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3
Q

x-linked

A

OTC -most common urea cycle disorder/ammonia
Hemophilia
Fragile X
DMD

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4
Q

Beckwith Wedimann Syndrome

A 
Uniparental disomy
Omphalocele and macroglossia
overgrowth - large kidneys
ear creases
childhood tumors- wilms/hepatobastoma
4-5% of IVF pregnancies 
epigentic changes with embryo in media 
chromosome 11 (genes IGF2, CDKN1c, H19, KCNQ1OT1
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5
Q

Imprinting genetics

A 
Prader willi
- deletion of paternal copy
-imprinting defect
- maternal UPD
1/15000
"prader no father"
-hypotonic, poor suck, failure to thrive, developmental delays, hypogonad, obesity 
Angelman syndrome 
no maternal chromosome
severe developmental delays
multiple seizures
progressively worsening 
deletion of maternal locus, parental uniparental disome
imprinting disorder.
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6
Q

Germ Line Mosicism -common conditions

A

severe OI

DMD

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7
Q

Mitocondrial inheritance

A

MELAS-Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes
Leber’s hereditary optic neuropathy
mito encephalomyopathy with ragged red muscle fibers
(varying degrees)
- heart/skeletal muscle/CNS
myoclonus, seizures, cerebellar ataxia, myopathy,[

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8
Q

Trinucleotide repeat

A

huntington ( autosomal dominate)CAG/ HD- dad expansion

myotonic dystrophy (autosomal dominate) CTG/DMPK- mom anticipation
>50 symptoms at 50 (cataracts)
>90 myotonia (can’t let go) age 20-30
>1000 congenital

Fragile x CGG/FMR- maternal anticipation
- expansion methylates gene and there is no expression
60-200 premutation - bigger mutation high risk for expansion.
>100-50%
AGG triplets stabilize the gene
female- premature ovarian failure

Fedrich’s ataxia
Spinocerebellar ataxia

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9
Q

Things you’ll see on karyotype that you won’t on anuploidy screening

A 
Translocation 
Inversion
Isochromosomes
Marker
Insertions
Ring
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10
Q

SMA

A

ACOG recommends that all people get SMA testing.
#1 killer for kids under 2
2nd most common autosmal recessive
weakness- pulmonary complications
SMN1 (5q13)- more copies are better! (miss 4% of carriers that have 2 in cis)
SMN2 (5q13) - modifies

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11
Q

Alpha Thal

A

Screen with low MCV
most common in SE asia
4 absent- barts (hydropic)
1 missing- silent carrier

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12
Q 
carrier frequency in jews
CF 
tay sac
canavan
familial dysautonomia
Gaucher
A 
CF 1/25
tay sac 1/30
canavan 1/40
familial dysautonomia 1/30
Gaucher 1/13
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13
Q

Tay-Sachs partner testing

  • inital screen
  • follow-up
A

Hex A enzymatic activity

Sequencing

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14
Q

CVS- associated risks

A 
contraindications- infections ( test for transcervical) 
1/300-1 % risk 
SAB
infection
bleeding (TC)
Fluid leakage
confined placenta mosiacism (1-2%)
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15
Q

What chromosomes do methylation mater (imprinting) ?

A

6,7,11,14,15

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16
Q

Karyotype vs microarray

A

Karyotype-
balanced translocation
Roberstonian translocation (concerns for T21)
Ring?

Microarray (6-7% more) 
-90 percent of genetic cases are missed! 
microdeletions/duplications 
now can detect triploidy 
? mosaicism

SNP- homozygosity

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17
Q

moms criteria

A 
Inclusion criteria
 Singleton 
Upper MMC boundary at T1-S1
 Evidence of hindbrain herniation
 GA 19.0-25.9 weeks at randomization
 Normal karyotype 
Maternal age >18 years
10 Major exclusion criteria 
Fetal anomaly unrelated to MMC
 Severe kyphosis 
Risk of PTB (short cervix, prior PTB) Placental abruption
 BMI >35 
Contraindication to prenatal surgery
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18
Q

Risk factors for anencephaly

A 
folic acid deficiency
diabetes
obesity
mxt
VPA
Carbamazepine 
2-5% risk for recurrance
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19
Q

alobarholopros

  • genetics
  • prognosis
A 
chromosomal 25-50%
SLO-inborn error of cholesterol synthesis. It is an autosomal recessive,
meckel Gruber
Aicardi/Fryns- CDH
DiGeorge
- diabetic 1%

risk for IUFD
50% die by 5 mo
80% die by 1 year

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20
Q

semilobar

lobar

A

Semi- absent csp, fused frontal lobes, thalami partially fused, microcephaly

lobar- absent csp, microcephaly, fused fornices, thalami separate

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21
Q

ventriculomegaly prognosis

A

worse with
progression
>12
much worse >15 - 50% have severe long term neurologic sequelae

x-linked
spina bifida
Septo-Optic dysplasia
CMV
Aneulopidy

isolated in about 40 %

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22
Q

sacrocoxegeal teratoma

A

cystic better than solid
Tumor vol/fetal weight >0.12 is bad

staging based on internal external

30-50 % mortality

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23
Q

Cleft lip

genetics

A

1:1000
most genetic causes are single gene
- trecher collins (midline), CHARGE (deaf and blind), skeletal disorder, Zellweger (leukodystrophies), Oculo-Auriculo-Vertebral,
Ectrodactyly–ectodermal dysplasia–cleft syndrome

unilateral 10% associated anomalies ,

bilateral- 35% with other anomalies

Recurrance risk can be 50%

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24
Q

micrognathia

A

inferior facial angle (straight down from nasal depresion and the angle of the chin/upper lip)
Fronto/naso/mental (forehead-nose-chin)
- determine if EXIT is helpful

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25
Q

hypoplastic left heart

A

aortic stenosis
coarctation
mitral valve stenosis
shone syndrome- MV/AV stenosis, supravalvular aortic stenosis

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26
Q

cardiac tumor differential

A 
rhabdomyoma
fibroma
hemangioma
myxoma
pericardial teratoma
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27
Q

Increased NT ddx- possible anomalies

A 
cardiac anomaly 15% if >5.5 
mediastinal compression (increase venous pressure)
CDH
skeletal dysplasia
arthrogryposis 
collagen disorders
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28
Q

Lissencephaly - what genetic disorder are you primarily concerned about ?

A

Miller Dieker- microdeletion

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29
Q

IUGR with ambigous genitalia - what syndrome

A

SLO - low estriol. inborn error of cholesterol synthesis.ranging from mild intellectual disability and behavioural problems to lethal malformations

autosomal recessive

30
Q

absent corpus callosum - genetic concern

A

acardia syndrome (female) dominant X-linked manner. However, most cases are de novo. Intellectual delay, retinal differance, seizures, acc

31
Q

non-immune hydrops- genetic concerns

A 
>50% have genetic anomaly
many- 
lysosomal storge disease
alpha thal 
anuploidy 
noonan
heart defect associated genes
32
Q 
Risk for genetic anomaly with these findings:
cystic hygroma
AV canal 
Omphalocele
Duodenal atresia
bladder outlet obstruction 
hydrocephaly 
cardiac defects 
meningomyelocele 
anencephaly 
encephalocele 
limb reduction 
clubfoot
facial clefts 
CNS
Skeletal
A 
cystic hygroma >50% 45X
AV canal 40% 21 
Omphalocele 30% (13/18)
Duodenal atresia 30% (21) 
bladder outlet obstruction 20% (13/18)
hydrocephaly 10% (13/18/21/triploid)
cardiac defects 10% (many)
meningomyelocele  7% (18)
anencephaly 2%
encephalocele 10%
limb reduction 8% (18)
clubfoot 6% (xxy, xxx, 12/21)
facial clefts 1% (13/18 22q)
CNS 15% ( abnormal array) 
Skeletal 14% (abnormal array)
33
Q

why is microarray standard?

A

10% SAB
13% stillbirth
and 5% ultrasound anomalies will have an abnormal array when karyotype is normal .

34
Q

Single gene causes of recurrent miscarriages

A 
alpha thal 
x linked dominant/lethal-
IP
chondordysplasia punctata
goltz 
Rett- normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills
Aicardi

Anticipation-
Maternal myotonic dystrophy

35
Q

Whats increased based on paternal age

A 
Acondroplasia
apert syndrome (acrocephalosyndactyly)
crouzon syndrome FGFR2- cranial facial 
pfiffer sydrome (skeletal)
MEN type 2
Progeria 
noonan
36
Q

Genetics associated with infertility

A 
fragile x 
CF
Myotonic dystrophy 
Kennedy disease
Karagener syndrome 
Klinefelter syndrome 
sex chromosomes
37
Q

maternal congenital heart disease and cardiomyopathy - genetic considerations

A

noonan 22q 11.2

38
Q

what can cause gain of function mutations?

A

missense mutations

39
Q

what causes loss of function autosomal dominant

A

dominant negative
1/2 normal level- phenotype
tumor supression

40
Q

Clinical heterogenieity

A

occurance of clinically different phenotypes from mutations in the same gene

41
Q

locus heterogeneity

A

production of identical phenotypes by mutations in two or more different genes (noonan, craniosynotosis)

42
Q

compound heterozygosity

A

different types of mutations in the same gene that act as homozygote

43
Q

CDH- prognosis and genetics

A

lung to head ratio >1.4 better prognosis, liver - worse prognosis
40-50% with Cardiac anaomaly
genetic anomaly is common -
Fryns- AR, pallister-killian, cornelia de lange- AD X-linked, donnai- barrow

44
Q

multicystic dysplastic kidney- primary genetic concern

A

meckle gruber (renal, encephalocele, polydactyly) -lethal

T13/18

45
Q

XX with ambigous genitalia- causes

A

CAH (21 hydroxylase, 11 b hydroxylase 3B hydroxysteroid- adrenals don’t make cortisol- no feedback, overproduce androgens- problems with electrolytes) meds, viralizing tumor

MRI may show ovaries and uterus

Aneuploidy- T13, triploid
XXY
Robinow- skeletal
Aarskog- skeletal
SLO- 7 dehydroxycholesterol (CNS, syndactyly)
WAGR -Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability. Deletion
Campomelic dysplasia
Deny Drash - kidneys and genitalia 90% wilms tumor

46
Q

46 xy ambigous genetalia

A

androgen insensitivity
17 alpha hydroxylase
leydig cell hypoplasia
5-alpha-reductase

47
Q

Omphalacele -genetics

A

if there is abnormal genetics:
75% T18
25% T13
-methlyation testing for Beckwith Wediman (imprinted 11p5.5)

48
Q 
what is this:
hitch hiker thumb
clubbed foot
cleft palate
cauliflower ears
scoliosis 
short long bones
A

dystrophic dysplasia- autosomal recessive

49
Q

recurrance risk of clubbed foot

A

3-5%

50
Q

Ratios in skeletal dysplasias

A

chest/AC <0.8 bad
FL/AC <0.16
FL/Foot <1 ( skeletal dysplasia)

51
Q

bent bone dysplasia ddx

A 
campomelic dysplasia 
Kyphomelic dysplasia
Thanatophoric dysplasia
osteogenesis imperfecta (Broken bones)
short rib polydactyly
femoral hypoplasia
hypophosphatasis
stuve -wiedeman
52
Q 
what is this
bent bones
ambigous genitalia
normal clavicales
bell shaped chest 
hypoplastic scapula
A

campomelic dysplasia- sox9 mutation - 90% die

53
Q

warfarin syndrome

A

fgr, nasal bone hypoplasia, depressed nasal bridge, stippled epiphyses, IVH

54
Q

Lithium teratogenicity

A

ebstein

55
Q

Thalidomide teratogenicity

A

micromelia

56
Q

mxt teratogenicity

A

folate antagonist
calvaria hypoplasia
craniofacial
limb defects

57
Q

Primary anti-epileptic concerns in pregnancy

A

valproic acid
carbamazepine
- NTD

58
Q

Triplet repeat diseases

A

huntington CAG/HD autosomal dominant
<36/ >40
-worse from dad

fragile x CGG/FMR1
x linked
<60/>200

Myotonic dystrophy CTG/DMPK
autosomal dominant
<30/80-2000

Friedrich Ataxia AAG/FRDA
autosomal recessive
<34/>36-100

59
Q

Fragile x carriers phenotypes

A

ataxia
short term memory loss
premature ovarian failure

60
Q

Fragile x stabilizers

A

AGG repeats

61
Q

gene for marfans

  • problem for anesthesia
A

fibrillin

  • dural ectasia
62
Q

loeys-Dietz syndrome

A

similar to marfans

  • baby can have cleft
  • cervical spine instability

vag delivery with operative delivery or c-section due to root dilation ( same as marfans)

63
Q

vascular ED

A

autosomal dominant
COL3A1
uterine rupture
aortic rupture

baby- club foot/amniotic bands

vascular anomalies- problems with epidural

deliver at 34-37

Cesaeran ALWAYS

64
Q

turner syndrome aortic dissection risk

-pregnancy management

A

1-2%
Cardiac MRI within 2 years of pregnancy

Higher risk of preeclampsia/FGR

Pregnancy contraindicated:
history of aortic dissection

ASI>2.0-2.5 cm dependent on BAV

aortic coarctation

transverse artch elongation

hypertension

65
Q

Myotonic Dystrophy in pregnancy

A 
congenital MD 
pph
prolonged 2nd stage
risk for heart conduction abnormalities
increased sensitivity to opioids/anesthesia
increased risk for pneumonia
66
Q

Skeletal dysplasia of mother in pregnancy

A 
heritability 
safety/mode of delivery 
anesthesia management 
cardiopulmonary status 
less weight gain up to 20 lb
decrease fluid rates
pelvic anatomy assessment

avoid operative delivery if concern for baby (c-section not indicated)

67
Q

Osteogenesis imperfecta in pregnancy- (mother)

A

autosomal dominant most of the time

increased fracture risk
blue sclera
late onset hearing loss
COL1A1/COL1A2

anesthsia consult
consider mode of delviery
Increased hernia risk

68
Q

Acondroplasia in pregnancy (mother)

A

autosomal dominant
FGFR3

baseline PFT’s
anesthesia consult
cesarean recommended

69
Q

Diseases where autosomal recessive diseases have some manifestation in heterozygotes

A

ataxia telangiectasis- increased risk for cancer
sickle cell- resistance to malaria
homocystinuria- increased vascular disease
a-1 antitrypsin- increased risk for pulmonary disease
Gaucher - increased ris for parkinson

70
Q

Hardy weinburg equilibrium

A 
large population 
no mutations
no selection
random mating
no migration
71
Q

Genetic heterogeneity

A

same phenotype different mechansiums

72
Q

williams syndrome

A 
7 q`11.23 deletion 
elastin gene
growth 
facial differances
aortic stenosis 
GI abnormalities
hypercalcemia
rectal prolapse/constipation
premature graying 
outgoing/ mild delay

MFM Oral Boards 2020 (25 decks)

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