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Genetics Flashcards

1
Q

poly-a-tail

A

100-200 adenines that are located at 3’ end of primary mRNA, involved in mRNA stabilization and allows for mRNA to be exported from nucleus

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2
Q

TAR

A

AR

Thrombocytopenia (40% mortality from hemorrhage), absent bilateral radii, ulnar abnormalities, normal thumbs

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3
Q

13q deletion

A

thumb hypoplasia, colobma, retinoblastoma, microcephaly

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4
Q

noonan

A

AD 12q22

web neck, pulmonic valve dysfunction, cryptoorchidism, abnormal coagulation

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5
Q

What is Fructose 1-6 bisphosphatase deficiency?

A

impared gluconeogenesis. Presents when glycogen stores are depleted.

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6
Q

hereditary fructose intolerance presentation?

A

hypoglycemia, hypophosphatemia, liver dysfunction

Due to aldolase B deficiency

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7
Q

cornelia de lange

A

brachmann-de lange
synophrys, downturning upper lip, micromelia, growth restriction, severe MR, limb defects, cryptorchidism, cardiac defects

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8
Q

beckwith widmann

A

macroglossia, hemihypertrophy, organomegally, omphalocele, macrosomia, ear lobe creases
hypoglycemia, polycythema
risk of wilms tumor, neuroblastoma and hepatoblastoma
mgmt: monitor with US q3m until 7 yrs, CXR, AFP

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9
Q

prader willi

A

15q11, Imprinting = variable expression of gene depending on which parent it is inherited from. In PWS:
absent expression of paternal gene, Maternal gene is silenced by methylation.
The paternal gene is not expressed due to
1) 70% microdeletion
2) 20% maternal disomy (both genes which are silent are from mom) - these are less hypopigmented with facies, but more have psychosis later in life
3) imprinting error (the father passed on his mother’s silent gene) - this is much more inheritible
4) balanced translocation
small exteremities, light pigment, cyrptorchidism, hypotonia, micropenis, poor feeding
Dx: DNA methylation will reveal only maternal silenced gene. May need to do fish/karyotype/cma to figure out further details.

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10
Q

Fanconi pancytopenia

A

AR, increased chromosome breaks in lymphocytes and amniotic fluid cells
Hyperpigmentation, radial hypoplasia, thumb hypoplasia, short, pancytopenia, some MR
35% mortality bc of heme

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11
Q

what should you add to treatment for organic acidemias?

A

carnitine – helps bind to organic acid and facilitate excretion in urine

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12
Q

advanced paternal age

A

increases risk for AD musculoskeletal disorders: achondroplasia, apert, marfan, treacher collins, OI, waardenburg

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13
Q

imprinting

A

silencing of single parent gene that has relevant genetic material on it. Prader willi, angelman, beckwith widermann, russel-silver,

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14
Q

crouzon

A

AD, FGFR2
more severe than aperts regarding intercranial issues, hydrocephalus, chiari 1 malformation, cerbellar herniation, IC htn

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15
Q

trisomy 13

A

aka patau

holoprosencphaly, cutis aplasia, microopthalmia, VSD, polydactyly, cleft, persistence of fetal hemoglobin (gowers)

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16
Q

CHARGE

A

coloboma (may be in back of eye), heart, atresia chonae (50% isolated), retarded growth, GU anomalies, ear anomalies (lop ear). Common to have CN VII palsy. Dx = coloboma/atresia chonae + 3 others

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17
Q

trisomy 18

A

large occiput, apnea, clenched hands, small mouth, short sternum

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18
Q

What is pyruvate carboxylase deficiency?

A

Impaired gluconeogenesis. Presents as hypotonia and altered mental status.

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19
Q

achondroplasia

A

4p16, FGFR3, 80% de novo, AD
MC non lethal chondrodysplasia. homozygous is lethal
short stature, short limbs, triden hand
frontal bossing, flat midface
kyphosis
narrow foramen magnum and c. spinal canal –> hydrocephalus and hypotonia, kyphosis
normal IQ

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20
Q

holt oram

A

AD cardiac ASD, abnormal thumb, narrow shoulder, upper limb defects

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21
Q

potter syndrome

A

symptoms due to oligohydramnios, ususally due to renal agenesis and low uop

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22
Q

Menkes syndrome

A

X linked recessive, xq13
Copper transport leading to deficiency
Kinky hair (light), progressive cerebral deterioration, seizures, wormian bones
Majority death in infancy

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23
Q

Cat eye syndrome

A

Extra part in 22q11 region

Cardiac, down slanting palpebral fissures, Anal atresia, iris coloboma

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24
Q

thanatophoric dysplasia

A

fgf3
redundant skin, short limbs, brain stem hypoplasia, hydrocephalus, large cranium
I: curved long bones, flattened vertebrae
II: clover leaf skull

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25
Q

Mass Spec

A

detection of very small differences in mass of PCR because of variations in DNA sequence.

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26
Q

turners syndrome

A

short stature, ovarian dysgenesis, broad chest, wide nipples, ear anomalies, cubitus valgus, renal, cardiac. normal IQ. Need estrogen replacement therapy and growth hormone.

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27
Q

apert

A

aka acrocephalosyndactylyl, FGFR2 mutation

craniosynosotis, syndactyly, broad distal phalynx of first digits, midface hypoplasia, some cognitive impairment

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28
Q

digeorge

A

microdeltion on 22q11.2 –> abnormal cervical neural crest migration of 3rd and 4th pharyngeal arches/pouches. Hypoplasia of thymus and parathyroid glands –> hypocalcemia, aortic arch abnormalities, facial dysmorphic features (hypertelorism, short palpebral fissures, short philtrum, micro/retrognathia, ear anomalies) cleft), developmental deficiency

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29
Q

PKU: etiology, symptoms, diagnosis

A

Phenylalanine is unable to be converted to tyrosine.
Phe deposits in the brain, long term causes lower IQ and neuro abnormalities.
Dx: plasma AA will show elevated Phe and Phe:Tyr ratio

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30
Q

Ellis van creveld syndrome

A

AR. Ectodermal dysplasia
Cardiac, short distal extremities, polydactyly, nail hypoplasia, narrow thorax
Normal intelligence
50% infant death from cardiorespiratory

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31
Q

congenital myotonic dystrophy

A

ad, myotonin protein kinase gene 19q13, ctg repeat, >45 –> disease, amplification
mother infant dyad
DMK gene

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32
Q

PCR

A

amplification of specific DNA sequence. DNA is heated and cooled in presence of DNA polymerase (used to copy DNA). Can detect point mutations/deletions.

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33
Q

Mobius sequence

A

6th and 7th n palsy, myopathy/brain nuclei involvement, expressionless facies, talipes equinovarus, mr

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34
Q

treacher collins

A

TCOF1 gene
microtia w/ conductive hearing loss, down slanting palpebral fissures, small mandible, airway difficulty, normal IQ, eyelid coloboma

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35
Q

maternal PKU, if untreated, puts the fetus at risk for what?

A

microcephaly, intellectual disabilities, CHD, IUGR

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36
Q

What are the three kinds of organic acidemia? symptoms? Dx?

A

Proprionic acidemia, methylmalonic acidemia, levolenic acidemia.
Dx: ketoacidosis, normal to high ammonia because the urea cycle also backs up, bone marrow suppression. Plasma aa will show glycine. Primary anion gap metabolic ketoacidosis.

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37
Q

Carpenter syndrome

A

AR

Cardiac, polydactyly/syndactyly, later inner canthus, brachycephaly

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38
Q

AR

A

CF, most IEM, a/b thal, SC disease, 21-hydroxylase def, congenital muscular dystrophy

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39
Q

angelman

A

15q11, maternal imprinting of mutated component/paternal disomy
blond social, severe MR, low verbal IQ, puppet like moevements, hypotonia, seizure

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40
Q

Meckel Gruber

A

AR, 17q21

Cardiac, polydactyly, occipital encephalocele, cystic dysplasia kidney

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41
Q

marfan

A

AD, 15q11, abnormal fibrillin

congenital form: prolapsed valve, aortic dilation, redundant skin, long, die from heart failure.

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42
Q

linkage study

A

analysis using 2 loci near each other on the same chromosome that are functionally unrelated to detect if patient has intherited chromosome containing a certain disease

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43
Q

oculo auriculo vertebral sequence

A 
from 1st and 2nd branchial arches, includes Goldenhaar
normal IQ (IQ is golden) - face hypoplasia, microtia, hemivertebrae
44
Q

when does OTC present and how do you treat it

A

within 24-48 hours. males are very sick and newborn first males may die.
tx: ammonia scavengers (phenylbutyrate) and arginine

45
Q

smith lemli opitz

A

disorder of cholesterol synthesis
reduced activity of 7-dehydrocholesterol (7DHC) reductase (7DHC –> cholesterol).
anteverted nares, ptosis of eyelids, syndactyly of 2nd and 3rd toes, hypospadias, cryptorchidism, MR, hirschsprung, cong pyloric stenosis

46
Q

neural tube defects

A

increased risk with maternal hyperthermia

47
Q

Microarray

A

molecular DNA fragments attached to slide –> comparative genomic hybrdization (number of copies of particular gene), microarray expression analaysies (is gene over/under expressed), mutation microarray analaysis (identify mutations or polymorphisms in a gene)

48
Q

Golden hat

A

1st and 2nd brachial arch anomalies

Cardiac, facial (malar hypoplasia, malformed ear and tongue, mr, vertebral

49
Q

Klinefeter

A

47xxy
Cardiac, long extremities, hypogonadosm, behavior difficulty
Mgmt: testosterone

50
Q

MSUD: etiology, symptoms, diagnosis

A

MSUD is when branch chain AA do not break down and accumulate in the body, including leucine, isoleucine and valine. Leucine is particularly toxic to the brain, causing neuro symptoms, cerebral edema and coma. Long term sequelae include decreased IQ.
Dx: plasma AA will reveal leucine, isoleucine, valine and alloisoleucine

51
Q

X recessive

A

fabry, hunter, menkes, OCT, g6pd deficiency, wiskot-aldrich, hemophilia A and B, red-green color blindness, Duchennes, ectodermal dysplasia, nephrogenic DI

52
Q

how do you differentiate between transient tyrosinemia and congenital tyrosinemia

A

in congenital tyrosinemia, you will have elevated succinylacetone. TT is due to low maturation of 4-OH-phenylpyruvate. It resolves by 4-6 weeks, restrict tyrosine in diet, ? vit C.
CT: due to deficient fumarylacetoacetate. Tx: NTBC

53
Q

What is the etiology, symptoms and diagnosis of urea cycle defects? Treatment?

A

An enzyme in the urea cycle pathway is deficient and consequently ammonia is ineffectively metabolized. Ammonia accumulates and deposits in the brain, inducing tachypnea.
Dx: hyperammonemia, respiratory alkalosis. Plasma AA (+) citrulline, arginine, orotic acid.
Tx: includes ammonia scavenging drugs like Na phenylacetate and Na benzoate

54
Q

williams syndrome

A

7q11 microdeletion, impacts elastin region
supravalvular aortic stenosis + pa branch stenosis, MR, SGA, feeding difficulty, hypercalcemia, htn, renal anomalies, hypothyroidism, prominent mouth/lips, bulbous nose, stellate iris, hoarse voice

55
Q

waardenburg

A 
type I-IV
abnormal pigmentation (albinism, white forlock), deafness, wide nasal bridge, upper limb defects
56
Q

AD

A

protein c/s deficiency, spherocytosis, gilbert, VW disease, contenital myotonic dystrophy, neurofibromatosis, apert, crouzon, hold-oram, marfan, noonan, stickler, treacher collins aplasia cutis, bullous inchythosis/ichthyosis vlgaris, epidermolysis bullosa simplex, keratosis pillaris, partial albinism, peutz-jegher, waardenburg, adult polycystic kidney disease, familial polyposis, gardner, alagille, retinoblastoma, achondoroplasia, OI, tanatophoric dysplasia, postaxial polydactly

57
Q

What is zellwegers syndrome and how does it present?

A

It is a peroxisomal disorder. Peroxisomes are responsible for bile acid synthesis, cellular detoxification and oxidation of LCFA. Patients are dysmorphic, similar to trisomy 21 and present with severe hypotonia and liver dysfunction. Also with high forehead. Usually die in first year.

58
Q

Russel silver

A

imprinting disease:

Small triangular facies, frontal bossing, short, clinocactyly, IUGR, hypotonia, hypogonadism, limb asymmetry

59
Q

What is the process of DNA –> RNA

A

DNA (ACGT) template gets transcribed to primary mRNA via RNA polymerase. Introns get spliced out to mature mRNA. Mature mRNA gets translated to amino acids in ribosomes through tRNA.

60
Q

fryns syndrome

A

AR CDH, digital/nail hypoplasia, coarse facies, brain malformations, eye abnormalities, anteverted nares, cleft lip/palate, GI disease, polyhdramnios. Most die perinatally.

61
Q

cri du chat

A

partial deletion of 5p
VSD, transverse palmar crease, hypertelorism, downslanting eyes, round face, severe MR, cat like cry from laryngeal abnormality, microcephaly, FTT, hypotonia

62
Q

Klippel feil

A

Cardiac, facial (short neck, limited head mvmt, abnormal cervical vertebrae fused, can be associated with sprengel (scapula doesn’t descend)

63
Q

rubenstein tabi

A

16p13 microdelition, CREB
downslanting fissures, micrognathia, broad thumbs and toes, increased risk of tumors, eye abnormalities, cardiac
(mish mosh of other syndromes)

64
Q

lyon hypothesis

A

that one x chromosome is silenced –> barr body. XO does not have barr body.

65
Q

What is pyruvate dehydrogenase deficiency?

A

Impaired ability to create energy from carbohydrates. Pyruvate can move further into Krebs cycle. Presents as hypotonia and basal ganglia damage. Dx: Lactic acidosis, elevated alanine. Only metabolic disorder where you do not want to treat with high glucose.

66
Q

nonketotic hyperglycinemia

A

Glycine (excitatory) accumulates in brain. Sz (hiccups). Tx: hemodialysis and benzoate

67
Q

FISH

A

single stranded DNA probe tagged with fluorescent marker that is complementary to sequence of interest - exposed to cultured cells. Available for trisomy 13, 18, 21, prader-willi, angelman, cri du chat, digeorge, miller dieker, williams syndrome

68
Q

MSUD

A

most concerning complication is cerebral edema, aloleucine and leucine deposit in brain. Thiamine can help.

69
Q

trisomy 8

A

campylodactyly, deep palmar creases

most lethal, those that survive are mostly mosaic

70
Q

stickler

A

hereditary arthro-opthalmopathy
type II colagen 12q13
flat facies, spondyloepiphyseal dysplasia

71
Q

Fragile x

A

X linked dominant, expansion of premutation (cgg repeats) leading to mutation, corresponds to severity
MC cause of MR
loss of function mutation
premutation: 50-200, females may have premature ovarian failure and cognitive deficiets
mutaiton: >200
Long facies, large ears, large testes, autism, connective tissue dysplasia, macrocephaly with structural anomalies

72
Q

What is galactosemia and how does it present?

A

Due to a defect in galactose metabolism, GALT activity. Presents with hypoglycemia, cataracts, ecoli sepsis, liver failure (hyperbili) and long term with decreased IQ. Dx: in NBS but need to do it prior to RBC transfusion because the assay is in RBCs. (+) urine non-glucose reducing substances.

73
Q

Meckel Gruber

A

17q21, AR, lethal mutation in cilia protein
occipital encephalocele, polydactyly, renal dysplasia –> pulm hypoplasia
DEATH within days

74
Q

What are specific findings in OTC?

A

OTC is an X linked urea cycle disorder. Ornithine –> carbamyl phosphate –> X –> citrulline. Due to abnormal ornithine transcarbamylase, there will be an increase in ornithine, decrease in citrulline. Hyperammonemia and respiratory alkalosis.

75
Q

OI

A

AD, type 1 collagen defect, COLIA1/COLIA2
I: blue sclera, easy bruising
II: lethal perniatal, most die in utero, delivered with multiple fractures, no benefit of csection, blue sclera
III: progressive, symptomatic by age 2, blue –> white, risk of poor dentitia and hearing
IV:
mgmt: pain management, bisphosphonates

76
Q

WAGR syndrome

A

11p13 microdeltion

Wilms tumor, aniridia, GU abnromalities, MR

77
Q

Fryns syndrome

A

CDH, agenesis of CC/ DW malformation/ hydrocephalus, cloudy cornea

78
Q

enhancer

A

DNA sequence that leads to increased transcription of gene, can be far from relevant gene but coil and come close to promoter, can bind to transcription factors

79
Q

promoter

A

a DNA sequence where RNA polymerase binds so transcription can occur (DNA to mRNA), close and upstream to relevant gene

80
Q

What is FAO defect?

A

MCAD (C6-10) is the most common. Elevation of fatty acid metabolites due to inability to break down FA. Will present with low ketones. Dx: Plasma acylcarnitine. VLCAD may present with hypertrophic cardiomyopathy, dx elevated c:14:1

81
Q

what is Fryns syndrome

A

CDH with CNS, facial anomalies and distal limb hypoplasia

82
Q

What is Wolf Hirschhorn Syndrome

A

greek helmet facies (low set ears, micrognathia), seizures, severed MR, septal cardiac defects
1/3 pts die in 1st year of life

83
Q

what is poland anomaly

A

syndactyly, chest wall hypoplasia

84
Q

what is incontenti pigmenti

A

x linked dominant. fatal in males. four stages of rashes - blistering –> verucous –> hyperpigmented –> hypopigmented. Nemo gene.

85
Q

What is Lowe syndrome

A

Intellectual disability, congenital cataracts, hypotonia, renal dysplasia. Oculocrrebral renal syndrome- ocelots gene

86
Q

neonatal lupus erythematosus (NLE) - what are the common presentations

A

skin and cardiac. Skin lesions: can present with sun exposure or not, no scarring, usually in first 1-2 months, goes away by 6m as maternal ab go away.

87
Q

psoriasis - how does it present and what is the treatment

A

erythematous scaling papules and plaques in diaper area. Differentiate from seborrheic diaper dermatitis.
Treatment: topical emollient and low potency corticosteroid

88
Q

what are the 3 kinds of epidermolysis bullosa?

A

Simplex: within epidermis - no scarring. AD. due to keratin defect
Junctional: AR. at junction of dermis and epidermis. Scarring. Due to defect in laminin or integrin or collagin.
dystrophic: deep in dermis. AD and AR. disfiguring scars. AD form in distal extremities.
junctional and AR dystrophic present in neonates

89
Q

what is massively parallel shotgun sequencing (MPPS)

A

a way to sequence both mother and fetus at the same time - good for looking at sex chromosome aneuploidy (ie Turners)

90
Q

what % of Tri 21 get transient myeloproliferative disorder and what is the natural presentation and course?

A

About 10% of Tri21 get TMD. Most are asymptomatic, but may present with hsm, fibrosis, hydrops. Blasts are high and persist, and may cause anemia and thrombocytopenia, but usually resolve by 3m. Otherwise treat with cytarabine. 20% get AML.
Thought to be due to GATA1 mutation on X chr, it is shorter and involved in hematopoisesis.

91
Q

northern vs southern dot plots

A

noRthern: RNA digested and exposed to a DNA probe
southern: DNA digested and exposed to a DNA probe

92
Q

how are the trisomies inherited

A

80-90% of tri 13, 18, 21 are complete mutations
5-10% transolocation
1-2% mosaics

93
Q

what is dennys drash?

A

progressive renal disease, male pseudohermaphroditism, Wilms tumor

94
Q

what is pearlman syndrome?

A

gigantism, overgrowth/visceromegaly, renal hematoma, wilms

95
Q

what are characteristic features of holt oram

A

“can’t hold your ASsD”

cardiac, abnormal upper limb anomalies including thumb, ASD

96
Q

what are lab findings in mevalonic aciduria?

A

elevated crp, elevated wbc, anemia

atypical for organic acidemia (no acidosis, ammonemia or hypoglycemia)

97
Q

what are the three types of bladder extrophy complex? (BEEC)

A

classic, which is mc (60%), bladder inversion, visible urethra, inguinal hernia, ext. genitalia involved
mild, epispadias (30%)
severe, cloacal extrophy (10%)

98
Q

TMD in tri 21 is a disease of what type of precursor?

A

megakarycotye

99
Q

in CHARGE, what are the 4 major criteria?

A

need 4 major or 3 major, 3 minor.
4 major are ‘4 C’s’:
coloboma, choanal atresia
cranial n. dysfunction, characteristic ears

100
Q

What is Leigh syndrome?

A

Mitochondrial disorder, neurodegenerative, curly eyelashes

101
Q

What is dysplasia vs deformation vs disruption vs malformation

A

Dysplasia: abnormal organization (achondroplasia)
Deformation: forms normally but then gets messed up (club foot)
Disruption: destruction/interference with normal development (amniotic band)
Malformation: abnormal development (syndactyly)

102
Q

what gene is responsible for cornelia de lange?

A

NIPBL, sometimes sporadic, cohesin related genes
assc with synophrisis, gut anomalies*, renal, vertebral/limb anomalies, cranial anomalies

long term outcomes:
ongoing failure to thrive, severe intellectual impairment, hearing loss, pulmonary aspiration, chronic sinusitis, esophageal adenocarcinoma, seizures, problems related to structural cardiac abnormalities, and shortened life expectancy

103
Q

how do mitochondrial diseases present?

A

primary lactic acidosis (not secondary to pyuvate metabolism, pyruvate will be normal) –> send whole exome sequencing in addition to metabolic work up

104
Q

is vacterl an association or syndrome

A

association (no known genetic linkage)

105
Q

what are different conditions associated with different fgfr genes?

A

fgfr1 - pfeiffer (i - 1)
fgfr2 - apert, crouzon
fgfr3 - achondroplasia

106
Q

what are some organic acidemia associations

A

MSUD: valine, leucine, isoleucine , assc with thiamine def
isovaleric acidemia: leucine build up
propionic acidemia: isoleucin, biotin helps
PCD: biotin helps
PDD: thiamine, don’t give glucose

also causes BM suppression, hypoglycemia, some hyperammonemia

107
Q

what are the types of OI?

A

I: (won) - mild
II: (boo) - perinatal lethal
III: (free from death for now) - progressive

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