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Embryology (clinical Anatomy) > lectures extra questions > Flashcards

lectures extra questions Flashcards

1
Q

What are autosome?

A

chromosomes 1-22

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2
Q

What are the 4 stages of gametogenesis?

A

migration + mitosis
meiosis (I+II)
Maturation

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3
Q

How many primary oocytes are made in mitosis in females?

A

7million (peak month 5)

40,000 at puberty (due to degen.)

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4
Q

What is the difference between sister chromatids and homologous chromosomes?

A

Sister chromatids = split in M2

Homologous chromosomes = split in M1

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5
Q

What is dictyate?

A

primary oocytes arrest in prophase I

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6
Q

What is the secondary oocyte arrested in before fertilisation?

A

metaphase II

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7
Q

what are the 2 commonest teratomas?

A

sacrococygeal > oropharyngeal

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8
Q

What is a translocation? What are the two types? What is the most common translocation?

A

Where part of 1 chromosome breaks off and joins another chromsome (commonest = 14–>21)

Balanced

Unbalanced

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9
Q

What are the 3 causes of T21?

A

95%: non-dysjunction (M1 most between homologous chromosomes and M2 less common between sister chromatids)
4% unbalanced translocation
1% mosaicism

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10
Q

What are the causes of aneuploidy?

A

Unbalanced translocation

mosaicism

Non-dysjunction

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11
Q

What is non-dysjunction?

A

Missegregation of chromsomes during M1 or M2 (meiosis)

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12
Q

What is mosaicism? Use it to explain why there might be different severities of T21?

A

Missegregation of chromsomes during mitosis (of the zygote)

Causes 2 cell populations –> some normal and some trisomy

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13
Q

Clinical features of Down’s?

A

Learning disability

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14
Q

Clinical features of Down’s?

A

Learning disability, single palmar creese, brushfield spots, small mouth, protruding tongue, low birth weight,

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15
Q

Clinical features of turner’s?

A

Characteristically female, webbed neck, wide-spaced nipples, lymphoedema, short, no ovaries

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16
Q

Complications of Down’s

A

CHD (VSD), early onset dementia, hypothyroid, coeliac, constipation, refluc, cataract, glaucoma

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17
Q

What cardiac defect is Turner’s linked to?

A

coarctation of the aorta

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18
Q

What complications are associated w/ turner’s?

A

infertile (no ovaries), coarctation Ao

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19
Q

What is the usual cause of Turner’s?

A

Non-dysjunction in spermatogenesis

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20
Q

How do sperm mature?

A

condensation of the nucleus, formation of the acrosome, formation of the neck/middle piece/tail –> shedding of the cytoplasm

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21
Q

What is inadequate implantation of the blastocyst linked to?

A

PROM, pre-eclampsia, IU fetal death, IUGR, preterm, placental abruption

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22
Q

describe fertilisation

A

corona radiata then ZP penetration –> fusion of cell membranes of oocyte + sperm –> oocyte completes M2

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23
Q

What does the sperm undergo in the female tract?

A

Capacitation

acrosome reaction (when it binds to ZP)

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24
Q

Give 3 female structural causes for abnormal implantation / subfertility?

A

Fibroids
Congenital uterine defects
endometriosis

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25
Q

How many pregnancies are ectopic?

A

2%

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26
Q

What is an ectopic?

A

Extra-uterine pregnancy

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27
Q

if a women has an endocrine disorder (PCOS), how might you induce ovulation?

A
  1. clomiphene citrate
  2. GnRH analogue (PULSATILE) + hCG
  3. FSH/LH + hCG
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28
Q

What does hCG do in inducing ovulation + IVF?

A

It causes an LH surge + causes woman to ovulate

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29
Q

How does clomiphene citrate work?

A

Oestrogen antagonist
Suppresses the -ve feedback to hypothalamus + pituitary
Causes ^ GnRH –> ^ FSH/LH

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30
Q

What are the steps of IVF?

A
  1. Induction of ovulation / gamete production
  2. gamete retrieval (including sperm)
  3. IVF (culture dish + incubated)
  4. embryo culture until 8 cell stage
  5. embryo transfer
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31
Q

What drugs do you use to induce ovulation in IVF?

A

Leuprolide acetate (GnRH agonist)
FSH daily
hCG

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32
Q

What’s the alternative to IVF in women who have PCOS? Why would you do this?

A

In vitro gamete maturation

PCOS at high risk of OHSS and this method doesn’t use ovulation stimulation step of IVF

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33
Q

What is the basic principle behind ovarian hyperstimulation syndrome?

A

^ oestrogen (a powerful vasodilator) –> fluid shift extravascular compartment

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34
Q

How can you preserve embryos and gametes?

A

freezing/cryopreservation using cryoprotectant chemicals (prevent ice crystals forming)

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35
Q

Who is IVF indicated for?

A

Tbal disease, endometriosis, mild male infer, unexplained infertility

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36
Q

Who is IVF contraindicated in? What might you use?

A

Severe male infertility –> ICSI (intracytoplasmic sperm injection)

PCOS –> in vitro gamete maturation

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37
Q

Define severe male infertility?

A

Problems w/ sperm morphology, motility and low sperm count (or non-obstructive azospermia)

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38
Q

How might a male with obstructive azospermia have sperm obtained?

A

PESA

TESA

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39
Q

What are the 3 fates of the epiblast cells?

A

o Stay put ectoderm
o Form new layer between epiblast + hypoblast mesoderm
o Displace hypoblast cells endoderm

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40
Q

what factor is produced cranially and what does it do?

A

HNF-3beta

specifies brain regions

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41
Q

What is the pathway that establishes left sidedness?

A

5HT (expressed L) –> FGF8 –> Nodal + Lefty 1+2 –> PITX2 (establishes left sidedness)

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42
Q

what gene products are produced on the right of the bilaminar disc?

A

SHH (inhibits left-sided products)

SNAIL

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43
Q

where is Brachyury produced and what does it do?

A

L/R of primitive node

what it does:

1) ANTEROPOSTERIOR/cranio-caudal patterning –> mesoderm development middle/caudal regions
2) essential for nodal + lefty 1+2 expn

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44
Q

What occurs if there is absence/problem w/ brachyury?

A

Caudal dysgenesis

no anteroposterior patterning

Failure of formation of caudal mesoderm structures –> limbs fused/unformed, urogenital problems)

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45
Q

What is caudal dysgenesis associated w/?

A

Maternal DM

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46
Q

What is HPE associated w/?

A

^ Alcohol intake

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47
Q

What is caudal dysgenesis?

A

AP shortening due to brachyury dysfunction –> loss of caudal middle mesoderm development

SIRENOMELIA

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48
Q

What is HPE? What are some features?

A

Midline defect - deficiency of midline tissues

Single midline ventricle, fused/underdeveloped forebrain, eyes fused midline, narrow head, absent nose…etc

REMEMBER: HPE is an example of aberrant gastrulation

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49
Q

What causes laterality problems (situs inversus)?

A

PITX2 ectopic production R

5HT pathway disruption (SSRIs)

Retinoic acid analogues (isotretinoin)

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50
Q

What do 20% of people w/ situs inversus have?

A

Kartanger’s syndrome

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51
Q

Give 4 examples of aberrant gastrulation?

A
  1. caudal dysgenesis
  2. Situs invertus / laterality seqyences
  3. HPE
  4. Teratomas
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52
Q

What occurs on day 16-18 of heart development?

A

progenitor heart cells migrate to lateral plate mesoderm + become PHF

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53
Q

What does the primary heart field give rise to?

A

Atria, LV and most of RV

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54
Q

What inhibits heart development?

A

WNT proteins

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55
Q

What patterning induces heart development?

A

BKP expn + WNT blocking substances (from endothelial cells) –> NKX2.5 expressed (master gene for heart developemnt)

NKX2.5 Upregulates Hand 1 + 2 expn –> cardiac looping

5HT, PITX2 and retinoic acid involved in establishing L/R patterning

retinoic acid also specifies caudal structures / atria

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56
Q

What is the role of NKX2.5

A

MASTER HEART GENE

  1. Causes Primary HF to become cardiogenic region (myoblast proliferation)
  2. Upregulates Hand 1 + 2 expn –> cardiac looping
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57
Q

What occurs on day 20-21 of heart development

A

2HF appears (regulated by NCCs) –> outflow tracts + rest of RV

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58
Q

What occurs day 23-28 heart development? how does it occur?

A

Heart tube dilatations and LOOPING happens

NKX2.5 –> upregulates Hand 1+2 (involved in cardiac looping)

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59
Q

What substances are involved in cardiac looping?

A

Hand 1 + 2

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60
Q

How would you treat HF in babies?

A
  1. duct dep: PGs
  2. diuretics
  3. NG tube
  4. O2
  5. Upright
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61
Q

What is the most common ASD?

A

High septal ASD (ostium secundum defect)

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62
Q

When do pts w/ ASD usually present?

A

30s/40s w/ HF/atrial arrhythmias

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63
Q

What is total anomalous pulmonary venous return?

A

Pulmonary veins drain into RA therefore survival only if ASD or PDA

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64
Q

What are the 4 features of hypoplastic LH syndrome?

A
  1. Underdeveloped LV
  2. ASD
  3. PDA
  4. Small aorta
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65
Q

How have some pre-natal screening methods been developed?

A

markers for disease produced by placenta or fetus (increased or decreased compared to normal pregnancy)

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66
Q

Why would you screen?

A
  • manage remaining pregnancy
  • Parents can plan
  • decide whether to continue pregnancy or not
  • plan for labour complications or complications of fetus
  • find conditions that affect future preg (e.g. Rh)
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67
Q

What is the percentage of false +ves in combined test?

What is its detection rate?

A

5%

80%

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68
Q

When do you do the combined test? What is it comprised of?

A

10-14w (1st trimester) (11-14 NT)

nuchal translucency (US) + PAPP-A / hCG

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69
Q

What is important for 2nd trimester testing?

A

Need fetal age for accurate intepretation

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70
Q

What is involved in 2nd trimester screening?

A

quadruple test: AFP, Estriol e3, hCG, Inhibin A

triple test: without estriol 3 (do for Edward’s)

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71
Q

when do you do 2nd trimester screening?

A

15-22 weeks

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72
Q

What are the results for in Down’s?

A

AFP: decreased
E3: decreased
hCG: increased
Inhibin A: increased

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73
Q

When is nuchal translucency performed?

A

11-14 weeks

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74
Q

How can you estimate gestational age from US?

A

crown rump length > baparietal diameter + femoral length

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75
Q

What can you use US for in pregnancy?

A
  1. detect multiple pregnancy
  2. detect/monitor fetal anomaly
  3. monitor preg. in maternal disease
  4. placental localisation / problems
  5. estimate GESTATIONAL AGE
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76
Q

What are the indications for diagnostic tests in pregnancy?

A
  1. screening suggests ^ risk
  2. mother >35
  3. previous child w/ abnormality
  4. parent w/ chromosomal disorder
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77
Q

When are CVS and amniocentesis carried out?

A

CVS: 10-12 weeks

Amnio: 15-16 weeks

78
Q

What are the risks of miscarriage CVS and amniocentesis?

A

CVS: 1-2%

Amnio: 0.5-1%

79
Q

Give 4 risks of amniocentesis?

A

Club foot
miscarriage
injury to fetus
Rh sensitisation reaction (give Anti-D)

80
Q

How is karyotyping carried out?

A

cells from CVS or amnio cultured –> colchicine + hypotonic soln –> spread on slides / giesma stained –> light microscopy

81
Q

What are the types of bands seen on karyotyping?

A

Light bands: euchromatin (GC rich - many genes)

Dark bands: heterochromatin (AT rich - less genes)

82
Q

What does FISH use? What is it useful for?

A

Fluorescent antibody/probs which attach to specific parts of the genome

Useful for identifying small chromosomal abnormalities (but need to know what you’re looking for)

83
Q

What is pre-implantation genetic diagnosis?

A

Used in IVF in high risk couples –> blastomere removed at 6-10cell stage to determine if viable

84
Q

When can non-invasive prenatal testing / diagnosis be used and why?

A

4-5 weeks as fetal DNA found in maternal serum from as early as this

85
Q

is NIPT available on the NHS?

A

No - only private

86
Q

What are the advantages and disadvantages of NIPT?

A

Non-invasive, 98% accuracy (only 80% for normal), 0.3% false +ves (5% standard), higher PPV than standard

Problem: invasive testing still required

87
Q

What can NIPD be used to diagnose? Is it diagnostic for everything?

A

DMD, CAH, Rh, fetal sex, achondroplasia

No - Amnio or CVS needed for some conditions

88
Q

at the 20w anomaly scan, what blood tests are also done?

A

Triple test (AFP, E3, hCG)

89
Q

When is open fetal surgery carried out for NTDs?

90
Q

how do you prevent preterm labour in open fetal surgery?

A

Tocolytics

91
Q

How do you maintain intrauterine pressure in open fetal surgery?

A

fluid cont. pumped into uterus

92
Q

What are some risks of open fetal surgery?

A

uterine rupture, infection, preterm delivery, fetal death, bleeding

93
Q

Give some uses of fetoscopic fetal surgery?

A

TTTS+TRAP, CDH, UT obstruction

experiemntal: amniotic band syndrome

94
Q

When does neuralation occur?

A

week 3 –> neural plate rolls up and 2 folds fuse –> neural tube

95
Q

Where is the commonest region for spina bifida?

A

Lumbosacral region

96
Q

Give some symptoms of myelomeningocele?

A

Paralysis / sensory loss (lower limb), bladder dysfunction, UTIs, bowel dysfunction, cognitive defects as hydrocephalus

97
Q

how many spina bifida pts have hydrocephalus?

98
Q

What are the main advantages of pre-natal compared to post-natal NTD repair?

A

Adzick (2011) study stopped as astonishing results found –> less CSF shunts needed, less patients had lower limb neurological defecit (x2 motor function), less deaths

99
Q

How do congenital diaphragmatic hernias occur?

A

failure of one or both pleuro-peritoneal membranes to close the pericardio-peritoneal cavities

100
Q

What are congenital diaphragmatic hernias associated with?

A

50% NTD

T18

101
Q

What are the feature of congenital diaphragmatic hernia?

A

respiratory distress + cyanosis,

102
Q

How does FETO work?

A

Fetoscopic endoluminal tracheal obstruction –> causes fluid to build up and therefore pressure w/in the lung and promote its development

103
Q

What Would you recommend to treat CDH?

A

Post-natal as a small study (n=23) found no benefit of FETO over post-natal repair in pts –> post-natal repair has less risks (PRETERM DELIVERY)

104
Q

when do the major changes of the placenta take place?

105
Q

What is the importance of chorionic villi?

A

They invade the intervillous spaces (filled with maternal blood) to establish maternal/fetal blood barrier for exchange of gases/nutrients…etc

106
Q

What supplies and drains the intervillous spaces?

A

Spiral arteries

Endometrial veins

107
Q

What does the mother receive from the fetus across the barrier?

A

creatinine, uric acid, urea, fetal rbc’s (rh Ag), hormones

108
Q

What does the syncitiotrophoblast produce?

A

hCG, Somatomammotropin, oestrogen, progesterone

109
Q

What occurs on day 6 of placental development?

A

Blastocyst approaches uterine wall

110
Q

What occurs on day 7 of placental development?

A

implantation occurs (starts invasion by cytotrophoblasts –> some differentiate to form syncitiotrophoblasts [outer])

111
Q

What occurs on day 8 of placental development?

A

ST continues to invade –> same time amniotic cavity forms in epiblast layer

112
Q

What occurs on day 9 of placental development?

A

BC fully embedded, hypoblast proliferates + lines inner CT (extracoelemic membrane), lucunae form in the ST

113
Q

What occurs on day 11-12 of placental development?

A

ST lacunae fuse –> intervillous spaces (cont. w/ maternal spiral artery capillaries) –> hypoblast new cell pop. (extraembryonic mesoderm) between the hypoblast + CT

114
Q

What occurs on day 12-13 of placental development?

A

Spaces form + fuse in extraembryonic mesoderm; primary chorionic villi projection form (mesoderm not inside)

115
Q

What occurs on day 13-15 of placental development?

A

extraembryonic mesoderm invades primary chorionic villi –> forms secondary chorionic villi

116
Q

What occurs on day 21 of placental development?

A

(extraembryonic) Mesoderm core in the CT differentiates to form blood vessels

117
Q

What does the cytotrophoblast anchor to in the endometrium?

118
Q

What is the (extraembryonic) mesoderm core come from in the chorionic villi?

A

Hypoblast cells that have differentiated to form a new cell population

119
Q

What happens to the extraembryonic mesoderm core in secondary villi on day 21?

A

differentiate to become blood vessels forming tertiary chorionic villi (contain blood vessels)

120
Q

How much blood do 100 spiral arteries deliver?

121
Q

How does hydrops fetalis occur?

A

in haemolytic disease of the newborn there is haemolysis of fetal RBCs –> anaemia –> ^ HR –> HF

122
Q

What is the incidence of dizygotic twins?

A

1/80 pregnancies and accounts for 90% of twinning

123
Q

What are the two unusual types of dizygotic twinning?

A

Heteropaternal superfecundation

Superfoetation

124
Q

What is the incidence of monozygotic?

A

3/1000 pregnancies

125
Q

How might monozygotic twinning occur?

A

Hall (2013) –> ZP damage, ICM damage, blastocyst mosaicism

126
Q

What is the incidence of non-identical and identical triplets?

A

Non: 1/1000
identical: 1/10,000

127
Q

What are the percentages of the different types of membranes in MONOZYGOTIC twins?

A

Dichorionic diamnotic: 25-30%
Monochorionic diamniotic: 70-75%
Monochorionic monoamniotic: 1-2%

128
Q

When does splitting of monoxygotic twins occur in Dichorionic diamnotic?

A

0-3days - 2 cell stage

129
Q

When does splitting of monoxygotic twins occur in Monochorionic diamniotic?

A

4-7days - early blastocyst

130
Q

When does splitting of monoxygotic twins occur in Monochorionic monoamniotic?

A

7-14days (after the amnion has developed on d 7) - late blastocyst

131
Q

What are the percentages of the different types of membranes in DIZYGOTIC twins?

A

Dichorionic diamnotic: 58%

Monochorionic diamniotic: 42%

132
Q

What are the risks of monochorionic twins / shared placenta?

A
  1. TTTS

2. TRAP

133
Q

What % does TTTS + TRAP occur in monochorionic twinning?

A

TTTS (10-15%)

TRAP (1%)

134
Q

What are the risks of monoamniotic twinning?

A

Entanglement and compression of the cord

135
Q

What is the difference between conjoined and parasitic twinning?

A

Conjoined is symmetrically joined

Parasitic: unsymmetrical

136
Q

give 4 types of abnormal twinning

A
  1. Vanishing twin
  2. Fetus in fetu
  3. conjoined twins
  4. parasitic twin
137
Q

What is the incidence of conjoined twinning

A

1/250,000 births

138
Q

What is a risk factor for vanishing twin?

A

IVF (1/10)

139
Q

What causes conjoined twinning?

A

PARTIAL splitting after the primitive streak has formed

140
Q

how can you distinhuish fetus in fetu from a teratoma?

A

contained in amniotic sac, recogn. features (e.g. limbs), covered in skin, attached to dom. twin via pedicle

141
Q

What is epigenetics?

A

The study of modifications to DNA that alters gene transcription

142
Q

What 2 epigenetic modifications are seen?

A

Histone acetylation - opens up DNA to allow transcription/expn

DNA methylation - activates or inactivates genes

143
Q

What are the pharyngeal arches made from?

A

Ectoderm (outer) –> mesoderm core w/ NCCs –> endoderm

144
Q

What cranial nerves do pharyngeal arches 1-4 give rise to?

A

1: V
2: VII
3: IX
4: X

145
Q

What does pharyngeal arch 1 give rise to?

A

maxillary + mandibular prominences

146
Q

What does the 1st pharngeal cleft give rise to?

147
Q

What does pharyngeal arch 2 give rise to?

A

hyoid bone

148
Q

What do pharyngeal arches 3+4 give rise to?

A

pharyngeal and neck tissues

149
Q

In the pharyngeal arches waht factors does the ENDODERM produce? What do these do?

A

BMP7, SHH, PAX1, FGF8

Causes mesenchyme core to express HOX genes

150
Q

What does the mesenchyme core do?

A

expresses HOX genes (patterning)

151
Q

What forms at the end of week 4 in facial development?

A

Facial prominences:

  • Frontonasal prominences (w/ 2 lateral nasal placodes)
  • maxillary prominence
  • mandibular prominence
152
Q

What do maxillary + mandibular prominences arise from?

A

Pharyngeal arch 1

153
Q

What happens on week 5 of facial development?

A

L/R nasal placodes form nasal pit –> splits into medial and lateral nasal prominences

Maxillary process grows medially –> pushes medial nasal prominences medially + they fuse

154
Q

What forms the secondary palate?

A

Lateral palatal shelves + maxillary prominences fuse

155
Q

How does the nasolacrimal duct form?

A

nasolacrimal groove separates the maxillary prominences from the lateral nasal prominences –> endoderm floor thickens forming duct

156
Q

What is DiGeorge syndrome?

What are some features?

A

Microdeletion chromosome 22

Low set ears, short filtrum, nasal cleft, absent thymous/parathyroids, poor t cell functioon, CHD, learning disability

157
Q

What are the two first arch syndromes?

A
  1. Robin sequence

2. Treacher Collins syndrome

158
Q

What is the incidence and pattern of inheritence in Robin sequence in robin sequence?

A

1/8500

Autosomal dominant

159
Q

What is the cause of treacher collins?

A

A.D. (60% new mutations) –> TCOF1 gene (product treacle –> NCC differentiation)

160
Q

What are some features of robin sequence?

A

micrognathia/mandibular hypoplasia, classic U shaped CP, ear/eye defects

161
Q

why do you get a classic U shaped cleft palate in robin sequence syndrome?

A

Due to micrognathia –> posterior tongue displacement so lateral palatal shelves can’t fuse

162
Q

What are some features of treacher collins syndrome?

A

Micrognathia, external ear malformation, down slanting palpebral fissure, zygomatic/mandibular hypoplasia (micrognathia)

163
Q

What is the incidence of cleft palate?

A

1/700-1000

164
Q

what types of Cleft palate are there?

A

in terms of incisive foramen?

  1. Anterior (deficiency in mesenchyme of maxillary prominence + medial palatal shelves)
  2. Posteiror (palatal shelves don’t fuse
165
Q

What is the main cause of cleft palate?

A

SMOKING (other: syndromic, genetic, anti-epileptic, benzos, rubella)

166
Q

What are the problems associated with cleft palate?

A

cosmesis, bullying, parent guilt/anxiety, aspiration penumonia, speech problems, feeding problems/FTT

167
Q

what % of newborns are born w/ a major and minor anomaly?

A

3% - major
15% - minor

As number of minor anomalies ^ –> the risk of major anomaly ^

168
Q

How is pyrexia a teratogen?

A

NTDs (affects neuralation)

169
Q

What is maternal DM associated with in teratology?

A

Caudal dysgenesis, CHD, NTDs

170
Q

what is smoking associated with in teratology?

A

CLP
IUGR
Preterm birth

171
Q

What is toxoplasmosis infection associated with

A

Hydrocephalus and cerebral calcification

172
Q

What does rubella cause in fetus?

A

cataract, deafness, PDA/pulmonary stenosis, CLP

173
Q

Two ways you can get a teratoma?

A
  1. aberrant PGC

2. Primitive streak persists

174
Q

What Splits in meiosis I + II?

A

Meiosis I: homologous chromosomes

Meiosis II: sister chromatids

175
Q

What is the cause of turner’s?

A

Non-dysjunction in spermatogenesis

176
Q

when is nuchal translucency measured?

What about 1st trimester maternal blood serum screen?

A

11-14 weeks

10-14 weeks

177
Q

What should nuccal translucency be less than?

A

3mm (if > then assoc. w/ CVS defects + T21…etc)

178
Q

How does an anterior cleft palate form?

A

failure of lateral palatal process(es) to meet and fuse with primary palate

179
Q

How does a posterior CP form?

A

failure of lateral palatal processes to meet and fuse with each other and nasal septum

180
Q

What 4 reasons explain why a cleft palate happens?

A

Failure of normal growth of palatal shelves

Failure of fusion of palatal shelves

Obstruction of palate fusion by tongue

Failure of shelves to rise above tongue

181
Q

When is a CP usually corrected?

A

1 year of age

182
Q

How does a cleft lip form?

A

Unilateral = maxillary prominence fails to fuse with merged medial nasal prominences

Bilateral = failure of both maxillary prominences to fuse with the merged medial nasal prominences

183
Q

When is a CL usually corrected?

184
Q

Is CLP and CP found more in females or males?

A

CLP: Males

CP: females

185
Q

What are the causes of CLP?

A

Syndromic
Related to genes but not syndromic
Non-syndromic: 70% CLP & 50% CPO
Teratogen exposure – SMOKING, anti-epileptics, benzos, RUBELLA

186
Q

What are the features of DiGeorge syndrome?

A

CHD
Absent thymus + parathyroids (–> hypoparathyroid –> seizures)
low t-cell function
mild facial dysmorphology (shortened filtrum, low set ears, nasal cleft)
learning disability

187
Q

What are the features of HPE?

A

Medial nasal prominences don’t form (due to deficient tissue)
Lateral nasal prominences fuse to form a proboscis with a single midline opening
Narrow head
Eyes fused
Upper lip formed by fusion of maxillary prominences
Single midline brain ventricle (fusion of lateral ventricles)

188
Q

What are some causes of HPE/midline defects?

A

Alcohol
Maternal DM
SHH mutations

189
Q

What is the TCOF1 gene associated with?

A

NCC differentiation

190
Q

What is capacitation of the sperm?

A

Plasma proteins removed from cell membrane overlying the acrosome

191
Q

What is the master heart gene?

Embryology (clinical Anatomy) (9 decks)

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