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First Year Comps > Embryo & Genetics > Flashcards

Embryo & Genetics Flashcards

1
Q

peanut esr
small lower
jaw
fish mouth
branchial arch disorder
CHL

A

treacher collins

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2
Q

small lower jaw
tongue further back
cleft palate
CHL
branchial arch syndrome

A

sticklers

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3
Q

underdevelopment of middle of the face & small lower jaw
near sightedness
CHL
joint problems (arthritis)
branchial arc syndrome

A

Pierre robbins

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4
Q

trigeminal nerve
tensor tympani
malleus & incus
all form from this arch

A

1st branchial arch (mandibular)

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5
Q

facial n
stapedius muscle
stapes
all form from this arch

A

2nd branchial arch (hyoid)

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6
Q

germ cells develop

A

pre embryonic

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7
Q

all organs develop from germ layers

A

embryonic

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8
Q

maturing of the organs

A

fetal

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9
Q

1/2nd arches invaginate at week 6, creates canal and it develops until week 26

A

EAC

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10
Q

(week 8-21) tubotympanic recess from 1st pouch, the ossicles develop outside of it and then month 8, they get sucked into the cavity

A

middle ear

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11
Q

3 hillocks between ½ arches, week 5 they appear, week 7 they fuse, week 30 complete formation (1st cleft has anterior half of it, 2nd cleft has posterior half of it)

A

pinna

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12
Q

22 days gestation, ectodermal placode thickens and invaginates to form otic pit, located dorsal to 2nd arch at day 26, then pit splits into ventral and dorsal part at day 28

A

inner ear

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13
Q

week 6, saccule pole extends. Week 8, it has done 2.5 turns, done developing by month 5

A

cochlea

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14
Q

week 6 SCC’s are flat pockets as extension of the utricle, week 9 mesenchyme hardens to form cartilage around the system (later turns to bone)

A

vestibular sytem

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15
Q

what does the cochlea develop from

A

sacculewhat d

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16
Q

what does the vestibular system develop from

A

utricle

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17
Q

centrioles go to poles

A

prephase

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18
Q

chromies line in the center

A

metaphase

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19
Q

chromies break at centromeres,

A

anaphase

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20
Q

new nuclear membrane forms at poles

A

telophase

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21
Q

replaces dead cells, somatic cells, ends with 2 identical daughter cells with a diploid set of 46 chromosomes, ensures identical daughter cells, 1 division cycle

A

mitosis

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22
Q

produces gametes, germ cells, ends with 4 different daughter cells with a haploid set of 23 chromosomes, ensures variation of daughter cells, 2 division cycles

A

meiosis

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23
Q

Sugar + Base + Phosphate

A

nucleotide

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24
Q

how do the bases pair

A

AT
GC

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25
Q

UAA, UAG,UGA

A

3 stop codons

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26
Q

AUG (methionine)

A

start codon

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27
Q

Double strand, has thymine, one less oxygen (deoxy), maintains proteins (encodes info)

A

dna

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28
Q

Single strand, has uracil, enough oxygen (ribose), carries protein (decoding info)

A

rna

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29
Q

DNA to RNA (in nucleus

A

transcription

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30
Q

mRNA to Protein (in cytoplasm)

A

translation

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31
Q

An environmentally caused trait that mimics a genetically determined trait

A

phenocopy

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32
Q

Thalidomide exposure is an example

A

phenocopy

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33
Q

The diverse effects of one gene or gene pair on several organ systems and functions resulting in multiple phenotypic effects in the body
Marfan’s

A

pleitropy

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34
Q

Only one chromosome of the chromosome pair is present rather than the usual two
Males are this because they have XY

A

hemizygous

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35
Q

causes 50-80% of all AR genetic HL

A

connexin

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36
Q

Increased K+ transport in the endolymph or increased endolymph production
Meniere’s disease

A

endolymphatic hydrops

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37
Q

Decreased K+ transport in the endolymph or decreased endolymph production
Connexin 26 HL

A

endolymphatic xerosis

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38
Q

hexagonal array of proteins in membrane of each cell that line up to the corresponding connexin proteins of the adjacent cell

A

connexin

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39
Q

35delG

A

connexin

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40
Q

Prior to or at conception, a pair of 21 chromosomes in either the sperm or the egg fails to separate (nondisjunction)
As the embryo develops, the extra chromosome is replicated in every cell of the body and accounts for an extra chromosome 21
the failure of the chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes

A

nondysjunction

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41
Q

Centromeres break and the long arms fuse → short arms fuse to form a new chromosome → new small chromosomes go away after few cell cycles → end result has new balanced chromosome with all the genetic information needed

A

robertsonian translocation

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42
Q

Occurs in nondisjunction of chromosome 21 takes place in one but NOT ALL of the initial cell divisions after fertilization
Some cells contain 46 chromosomes and others contain 47, which contain an extra chromosome 21

A

mosaicism

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43
Q

missing a sex chromosome, webbed neck, spontaneous mutation, low pinnas, streak gonads, infertile

A

turner’s

44
Q

extra sex chromosome, single most common cause of male infertility, infertile, form man boobs at puberty,

A

klinefelters

45
Q

What is the hallmark of chromosomal disorders

A

intellectual disabilities

46
Q

AD
Joint problems, distinctive facial features (cleft lip/palate, small lower jaw, & tongue in back of mouth)

A

stickler syndrome

47
Q

AD
Vestibular schwannoma
Lisch nodules, >6 cafe au lait spots, tumors on and under skin

A

NF1

48
Q

AD
Bilateral acoustic neuromas, 100% penetrance,

A

nf2

49
Q

AD
Blue sclera, vertigo, tinnitus, multiple bone fractures

A

osteogenesis imperfecta

50
Q

Variable (AR, AD, X linked)
Progressive neurodegenerative disease characterized by polyneuropathy (affects motor & sensory nerves, absent limb reflexes, muscular atrophy), likely due to auditory neuropathy

A

Charcot-Marie Tooth

51
Q

AR
Long QT interval, SIDS

A

JLNS

52
Q

X linked
Abdominal hernia, contractures of arms, hands, etc.), death by 10-15 yrs

A

hunter syndrome

53
Q

Pigment disturbances, deafness, AD, b/l upper extremity defects, abnormal limbs&joints

A

waardenburg

54
Q

Sudden onset of severe/profound SNHL when exposed to aminoglycosides, not dose dependent

A

Aminoglycoside-induced ototoxicity

55
Q

Congenital stapes fixation w/ perilymph gusher

A

DFNX0

56
Q

AD, fish mouth, first arch syndrome, peanut ear, coloboma

A

treacher collins

57
Q

AD, polycystic large kidneys, mixed SNHL, branchial preauricular pits

A

BOR

58
Q

x linked, dementia, cataracts, SNHL

A

norrie

59
Q

retinitis pigmentosa, progressive HL

A

ushers

60
Q

AD, Early fusion of bones, atresia of EAC, ossicular deformities, CHL

A

crouzons

61
Q

Most common in caucasian females, otic capsule, AD

A

OTSC

62
Q

Multifactorial, unilateral facial structures from first and second arch, CHL, skeletal issues

A

OAV

63
Q

Renal failure, hematuria, SNHL that is progressive, vision loss

A

alports

64
Q

Impairment of speech perception in noise due to disruption of synchronous VIII N firing, in tact OAE’s but absent reflexes and ABR

A

ANSD

65
Q

Caused by GAA trinucleotide triplet expansion, babinski reflex, nystagmus

A

Friedreich’s ataxia

66
Q

Which is false for NF-2
High risk for meningioma
100% penetrance
Close relatives present with it?
Intellectual disability
Minimal cafe au lait spots

A

Intellectual disability

67
Q

AR, thyroid problems, hypothyroidism, SNHL,

A

pendred

68
Q

What is associated with Mondini malformation?

A

charge

69
Q

Characterized by coarse facial features, shortened lifespan, intellectual disability, large babies

A

Hurler syndrome

70
Q

HL, displacement of the inner eyes, thickened eyebrows, white forelock

A

Waardeburgh type I (AD?)

71
Q

Urine analysis & routine blood tests

A

alports

72
Q

Almost all of the autosomal dominant conditions show post-lingual progressive hearing loss and all recessive conditions are associated with severe to profound SNHL, which is prelingual (probably congenital)

A

TRUE

73
Q

Connexins are found only in the auditory system

A

False, Inner ear (including utricle & saccule- nonsensory epithelial) , skin, liver, bladder, placenta, Etc

74
Q

Missense non-conservative mutation

A

This mutation happens when the code is read wrong and the product of the code is harmful and different from the intended code. It codes for a different amino acid

75
Q

Something harmful that occurs in the environment that causes a mutation only of the developing embryo/fetus.
Example:
Zika virus

A

TERATOGEN

76
Q

Cochlear hair cells once fully differentiated remain in the _____ phase of the cell cycle

A

go

76
Q

Which is different?
Adenine
Thymine
Guanine
Cytosine
Methionine

A

Methionine

77
Q

Which is different?
Phenylalanine
Uracil
Tryptophan
Proline
Tyrosine

A

Uracil

78
Q

Point mutation that prematurely codes for stop codon is called

A

Nonsense mutation

79
Q

Genetic crossing over in ____ prevents children from being clones of their parents

A

Prophase I

80
Q

Which is NOT stop codon?
UAA
UAG
AUG
UGA
UUU

A

AUG
UUU

81
Q

Which neural tube defect contains remnants of all 3 germ layers

A

dermoid cyst

82
Q

Dna structure allows for replication and affords protection against DNA loss and damage

A

true

83
Q

Sperm do not contribute _________ to fertilized egg because they shed the ______ prior to fertilization

A

Mitochondria, cytoplasm

84
Q

Future ET develops from the _____ pharyngeal pouch

A

first

85
Q

Future ______ develops from first pharyngeal groove/cleft

A

eac

86
Q

Pinna develops from 6 mesenchymal projections called

A

auditory hillocks

87
Q

Inner ear develops from the ____ and cochlea develops from pocket of lower pole of the ____

A

otic placode
saccule

88
Q

Adenine and guanine are two ring structures called ______ and thynine and cytosine are 1 ring structures called

A

Purines
Pyrimidines

89
Q

vertical transmission, only need 1 bad gene, no carriers, 50% chance per pregnancy

A

AD

90
Q

Consanguinity is an issue, horizontal transmission, 25% chance per pregnancy, carriers involved

A

AR

91
Q

Different gene from each parent on each chromosome

A

heterozygous

92
Q

same gene from each parent on each chromosome

A

homozygous

93
Q

ONLY from mom, 100% chance to both sexes
All children (M & F) of affected MOTHERS have 100% risk of infections
Father doesn’t pass it on because sperm loses cytoplasm prior to fertilization

A

eve gene
mitochondrial

94
Q

How to read 1q2_4

A

Chromosome 1, long arm q, band 2 region 4

95
Q

Process which phenotype differs depending on which parent transmits the allele/chromosome

A

genomic imprinting

96
Q

what are 2 examples of genomic imprinting

A

Prader Willi Syndrome- paternal

Angelman Syndrome- maternal

97
Q

Abnormal number of chromosomes

A

aneuploidy

98
Q

Which chromosome is not acrocentric?
13, 14, 15, 22, 21, Y, 10

A

10

99
Q

If two deaf parents are inquiring about their child having a HL, but they have a hearing child, what is the possible explanation?

A

Complimentary AR transmission

100
Q

What is huntingdon’s disease an example of?

A

Allelic expansion and genetic anticipation

101
Q

With X linked dominant, the dad will pass it on to

A

100% chance to F, 0% chance to M

102
Q

x linked recessive

A

From mom - 50% chance carrier to F, 100% M
From dad - 100% carrier F

103
Q

GJB2 gene Cx26

A

DFNB1A

104
Q

GJB6 gene Cx26

A

DFNB1B

First Year Comps (9 decks)

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