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Year 2 > Case 7 > Flashcards

Case 7 Flashcards

1
Q

How long after ovulation can the oocyte be fertilised?

A

24hrs

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2
Q

How long can sperm remain viable in female tract?

A

24hrs

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3
Q

Capacitation

A

Removal of proteins by enzymes in plasma membrane of sperm.

Enables sperm to pass through coronal cells and undergo acrosome reaction.

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4
Q

Acrosome reaction

A

Enzymes released from acrosome of sperm, which digest coronal cells. Allows sperm fuses with oocyte membrane.

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5
Q

Where does fertilisation usually occur?

A

Ampullary region of uterine tube

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6
Q

Cortical reaction

A

Formation of a fertilisation membrane after one sperm has entered.
Prevents triploidy.

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7
Q

Cleavage

A

Rapid mitotic growth without growth.

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8
Q

How does a morula differ from a blastocyst?

A

Blastocyst has formed an inner cavity.

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9
Q

Inner cell mass will eventually become the..

A

Embryo

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10
Q

Trophoblast eventually becomes the…

A

Placenta

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11
Q

Blastocoele

A

Fluid filled space surrounded by trophoblast

Yolk sac

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12
Q

Morula

A

Spherical 16-cell mass

4-7 days post fertilisation

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13
Q

Blastocyst

A

Has a cavity inside the zona pellucida and an inner cell mass.
8-14 days post fertilisation

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14
Q

Attachment of blastocyst to uterine epithelium

A

Blastocyst hatches from surrounding zona pellucida.

L selectin on trophoblast of blastcyst attaches to CHO receptors on endometrial wall.

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15
Q

Function of syncytiotrophoblast

A

Invades endometrium causing spiral arteries to rupture

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16
Q

Cytotrophoblast

A

Immediately surrounding embryo

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17
Q

When does blastocyst reach the uterus?

A

6-7 days after fertilisation

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18
Q

Apposition/Adplantation

A

Blastocyst is pressed against endometrium at the Inner Cell Mass region

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19
Q

When is embryo completely surrounded by endometrium?

A

9-10 days after fertilisation

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20
Q

Complete Implantation

A

Apposition - blastocyst becomes pressed against endometrium at ICM region.
Adhesion between L-selectins on trophoblast cells and CHO receptors on endometrial wall.
Syncytiotrophoblast secretes enzymes which break down endometrial cells.

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21
Q

Decidual reaction

A

Stromal cells of uterine mucosa fill with glycogen.

Provides nourishment until placenta develops.

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22
Q

Majority of abnormal implantations occur in…

A

Uterine tubes

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23
Q

Placenta Previa

A

Low lying placenta.
Inserted into lower uterine segment.
Prevents natural birth.

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24
Q

Placenta accreta

A

Abnormal invasion of endometrium and myometrium

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25
Q

Gastrulation

A

Conversion of bilayered blastula into an embryo with 3 layers

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26
Q

Primitive streak cells synthesise….

A

FGF8 - controls migration and specification.

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27
Q

Mechanism for gastrulation

A

Cells of epiblast migrate towards primitive streak, moving away from epiblast and slipping beneath it.
Invagination and lateral migration of epiblast cells.

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28
Q

Ectoderm derived tissues:

A 
CNS
Pineal gland 
Epidermis 
Hair 
Enamel
Inner ear
Retina and lens
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29
Q

Mesoderm derived tissues:

A 
Cranium
Connective tissue 
Urogenital system 
Pericardium 
Heart
Blood 
Lymphatics
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30
Q

Endoderm derived tissues:

A

Epithelium of GI tract, respiratory tract, urinary bladder, parathyroid gland

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31
Q

Important proteins involved in neurulation

A

Wnt

Shh

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32
Q

Wnt protein

A

Induces ecto and mesodermally derived tissues

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33
Q

Shh protein

A

Initially expressed in notochord.
Induces neural patterning.
Induces patterning of somites.

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34
Q

Neurulation

A

Cells in mesoderm just below primitive streak differentiate into notochord.

Induces formation of a thickening in ectoderm called the neural plate.

Neural plate cells dive into mesoderm and form a ring structure called the Neural Tube.

Neural tube formation induces cells from ectoderm to enter mesoderm - Neural crest cells.

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35
Q

Closure of neural tube occurs due to adhesion of which molecules:

A

E-cadherin

N-cadherin

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36
Q

E-cadherin is found in…

A

External epidermis of skin

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37
Q

N-cadherin is found in…

A

Neural crest cells

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38
Q

Neuropores

A

Openings in neural tube

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39
Q

Neural tube closure travels from…

A

Neck region and continues posteriorly

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40
Q

Molecules responsible for dorsalisation of CNS

A

BMP and Wnt

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41
Q

Molecules responsible for ventralisation of CNS

A

Shh

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42
Q

Molecules responsible for caudalisation of CNS

A

Wnt and Retinoic acid

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43
Q

When does gastrulation occur?

A

Week 3

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44
Q

Neural Crest cells

A

Temporary group of cells found in mesoderm.

Give rise to a number of different cells.

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45
Q

Neural Crest cells

A

Temporary group of cells found in mesoderm.

Give rise to a number of different cells.

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46
Q

Cranial neural crest

A 
Carilage and bone 
Cranial neurons 
Glia and CT of face 
Bones of middle ear
Tooth primordia
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47
Q

Trunk neural crest

A

Dorsal root ganglia and sensory neurons
Sympathetic ganglia
Melanocytes

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48
Q

Vagal and sacral neural crest

A

Parasympathetic nerves of gut

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49
Q

Cardiac neural crest

A

Melanocytes
Neurons
Division between aorta and pulmonary artery.

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50
Q

Somites

A

Paired blocks of mesoderm. Arranged at either side of neural tube.

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51
Q

Somitogenesis

A

Formation of whorls of concentric mesoderm cells, producing pairs of identical somites which differentiate into the same cell types.

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52
Q

Hox (Homeotic genes)

A

Inform somites of their position.

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53
Q

Somites differentiate into…

A

Cartilage and bone
Muscles of ribcage, limbs and back
CT of dermis

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54
Q

Giemsa stain

A

Stains all parts of DNA equally, generating patterns of light and dark due to different amounts of coiling.

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55
Q

Telomerase

A

Recaps ends of chromosome which fray during replication.

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56
Q

Trisomy 21

A

Down’s Syndrome

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57
Q

Why does nuchal translucency increase with Down’s Syndrome?

A

Abnormal venous drainage

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58
Q

Physical features seen in infants with Down’s Syndrome

A 
Muscle hypotonia 
Large tongue 
Brushfield spots (white spots in iris)
Single palmar crease
Flattened nose 
Curved 5th finger 
Sandal gap deformity
Low set ears 
Epicanthal folds
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59
Q

Features of Down’s Syndrome in later life

A

Developmental delay

Obesity

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60
Q

People with Down’s Syndrome are at an increased risk of…

A 
Heart disease
Thyroid disorders
Conductive hearing loss 
Immune dysfunction
Leukaemia 
Seizures (15%)
Dementia (75% by 65yrs)
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61
Q

Trisomy 18

A

Edward’s Syndrome

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62
Q

Prognosis for Edwards syndrome

A

75% miscarried or stillborn

5-10% survive to 1 year

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63
Q

Common features of Edward’s Syndrome

A 
Arthrogryposis (joint contractures)
Rocker bottom foot with prominent calcaneus
Clenched hands with index and 5th fingers overriding 3rd and 4th
Skeletal defects
Cleft lip/palate 
Heart and urogenital abnormality 
Seizures
Developmental delay
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64
Q

Trisomy 13

A

Patau Syndrome

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65
Q

Prognosis for Patau Syndrome

A

20% survival at 1 year

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66
Q

Common features of Patau syndrome

A 
Microcephaly 
Holoprosencephaly (failure of forebrain division)
Cleft palate 
Cutis Aplasia (missing skin, usually scalp)
Craniofacial defects
Polydactyly
Omphalocoele 
Urogenital and heart defects 
Seizures
Developmental delay
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67
Q

Holoprosencephaly

A

Failure of forebrain division and midline formation.

Seen in Patau syndrome

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68
Q

Cutis Aplasia

A

Missing skin, usually on scalp, seen in Patau syndrome

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69
Q

Hypotelorism

A

Short distance between eyes, seen in Patau syndrome

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70
Q

Cyclopia

A

One eye

Seen in Patau syndrome

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71
Q

Proboscis

A

Tube rather than a nose

Seen in Patau syndrome

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72
Q

Polydactyly

A

Many fingers

Seen in Patau syndrome

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73
Q

Omphalocoele

A

Liver and intestines outside the body.

Seen in Patau syndrome

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74
Q

Mosaicism

A

When someone is composed of cells of 2 genetically different types.
Caused by errors in post-zygotic mitosis e.g. non dysjunction and trisomy rescue

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75
Q

Germline mosaicism

A

Mutated cells only found in testis or ovaries.

Asymptomatic but offspring may be affected.

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76
Q

Possible triploidies

A

69 XXX
69 XXY
69 XYY

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77
Q

Diandry

A

Egg fertilised by 2 sperm or a diploid sperm

Accounts for 60-80% of triploidy cases

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78
Q

Effect of diandry

A

Large placenta

Small foetus

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79
Q

Digyny

A

Diploid egg fertilised by 1 sperm

20-40% of cases

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80
Q

Effect of Digyny

A

Small placenta

Very small foetus

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81
Q

Features of troploidy

A 
Misscarriage/Stillbirth
Early neonatal death
Prematurity 
Craniofacial dysmorphism
Hypotonia 
Eye/gut/brain/cardiac/limb/GU abnormalities
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82
Q

Why are sex chromosome aneuploidies more mild?

A

Y chromosome is small and X chromosome can be inactivated

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83
Q

Barr body

A

Condensed, inactive X chromosome

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84
Q

47XXY

A

Klinefelter syndrome

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85
Q

Features of Klinefelter Syndrome

A 
Hypogonadism and infertility 
Gynaecomastia 
Absent secondary sexual characteristics 
Small testes 
Tall stature
Shy and apprehensive
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86
Q

People with Klinefelter syndrome are at higher risk of…

A

Female associated health problems e.g. Breast cancer, thyroid problems

87
Q

Management of Klinefelter syndrome

A

Testosterone and fertility treatment

Treat gynaecomastia

88
Q

Features of 47 XYY syndrome

A

Normal intelligence, testosterone and fertility.
Tall
Aggressive/antisocial
Severe acne

89
Q

45X

A

Turner Syndrome

90
Q

Visible features of Turner Syndrome

A

Neck webbing
Broad, flat chest with widely spaced nipples
Low set ears
Increased carrying angle of elbows

91
Q

Sexual characteristics of Turner Syndrome

A

Streak ovaries
Lack of sexual development
Primary amenorrhoea
Infertile

92
Q

Physiological characteristics of Turner Syndrome

A

Heart and kidney defects
Increased risk of IBD
Hypothyroidism

93
Q

Management of Turner Syndrome

A

GH in childhood
Oestrogen in adolescence
Surgery for webbing
IVF/Egg donation

94
Q

Risks of balanced reciprocal translocation

A

Infertility

Recurrent miscarriage

95
Q

Ring chromosome

A

A chromosome whos arms have fused together to form a ring

96
Q

Ring chromosome 20

A

Associated with Seizures

97
Q

Robertsonian Translocations most commonly occur between..

A

Chromosome 13 and 14

98
Q

45,XX,der(13:14)

A

Robertsonian Translocation between chromosome 13 and 14.

Combination of small arms of 13 and 14 have been lost.

99
Q

Uniparental Disomy

A

2 copies of a chromosome come from the same parent.

May occur due to trisomy rescue (deletion of a third chromosome)

100
Q

Risk of Down’s syndrome when mother carries the Robertsonian Translocation

A

10%

High risk as there is no competition between eggs.

101
Q

Risk of Down’s Syndrome when father carries the Robertsonian translocation

A

<0.5%

Low risk since abnormal sperm are outcompeted

102
Q

5p Deletion (deletion of short arm of chromosome 5)

A

Cri Du Chat

103
Q

Interstitial Deletion 15q11-q13

A

Prader-Willi Syndrome

Angelman Syndrome

104
Q

Features of Prader-WIlli Syndrome in the newborn

A

Weak feeding, hypotonia, slow development

105
Q

Features of Prader-Willi Syndrome in a child

A 
Constantly hungry
Obesity (+diabetes)
Narrow forehead
Small hands and feet 
Short
Intellectual and behavioural problems 
Hypogonadism
106
Q

Features of Angelman Syndrome

A 
Delayed development and intellectual disability
Severe speech impairment 
Gait ataxia 
Epilepsy 
Microcephaly 
Excitable/Hyperactive 
Fair coloured skin and hair 
Scoliosis
107
Q

Intersitial deletion 22q11.2

A

DiGeorge Syndrome

108
Q

Inheritance pattern for DiGeorge Syndrome

A

Autosomal dominant

109
Q

Features of DiGeorge Syndrome

A 
Heart abnormalities (74%)
Palate abnormalities (69%)
Immun deficiencies (77%)
Hypocalcaemia (50%)
Learning disabilities (70-90%)
110
Q

Use of Fluorescent In Situ Hybridisation (FISH)

A

For small changes in genes, too small to be seen by karyotyping (e.g. microdeletion 22q11.2)

111
Q

Micro Array-Based Comparative Genomic Hybridisation

A

Detects changes in genes and chromosomes.

Used in most post and prenatal cytogenetic testing.

112
Q

Problems with Array-CGH

A

Incidental findings e.g. Huntington’s

113
Q

Malformations usually occur at what stage of gestation?

A

3-8wks

114
Q

Disruptions

A

Alterations of pre existing structures due to destructive forces e.g. Amniotic band syndrome

115
Q

Amniotic band syndrome

A 
Foetus entangled in amniotic bands 
Decreased blood flow causing:
Club hands
Cleft lip/palate
Syndactyly
Amputation
116
Q

Deformations are caused by…

A

Mechanical factors

117
Q

Syndrome

A

Pattern of malformations occurring together that are thought to have a specific common cause

118
Q

Teratogens

A

Disrupt embryonic or foetal development during critical periods.
Produce malformations/birth defects

119
Q

Fragile X Syndrome

A

Fragile sites found in regions of CCG repeats.

Causes mental retardation, large ears, prominent jaw and autism

120
Q

Effect of chemical agents during 1st trimester

A

Congenital malformations

121
Q

Effect of chemical agents during 2nd/3rd trimester

A

Affect foetal growth and functional development

122
Q

Effect of chemical agents near term/during labour

A

Adverse affects on labour and neonate after birth

123
Q

Effect of thalidomide on foetus

A

Missing limbs
Facial, CV and CNS abnormalities
Increased risk of prematurity and spontaneous abortion

124
Q

Effect of Isotretinoin (Analogue of Vit A used for acne) on foetus

A

Facial abnormalities
Low IQ
CNS and CV problems

125
Q

Effect of Rubella infection during first trimester

A

Congenital Rubella Syndrome

Cataracts
Cardiac defects
Deafness
Mental retardation

126
Q

Effect of rubella infection during weeks 13-16 gestation(Early 2nd trimester)

A

15% have deafness and retinopathy

127
Q

Effect of Rubella infection after 16 weeks gestation

A

Normal development

SMALL risk of deafness and retinopathy

128
Q

Why does alcohol intake by a pregnant woman have a detrimental effect on the foetus?

A

Foetal liver does not have alcohol or aldehyde dehydrogenase

129
Q

Effect of alcohol intake during 1st trimester

A

Foetal Facial deformity

Smooth Philtrum 
Abnormal ear cartilage
Wide set eyes/Epicanthal folds
Small upper lip
Microcephaly
130
Q

Effect of alcohol intake during 2nd trimester

A

Increased risk of spontaneous abortion

131
Q

Effect of alcohol intake during 3rd trimester

A

Effect weight, length and brain growth of baby.

132
Q

Facial deformity seen in Foetal Alcohol Spectrum Disorders

A 
Smooth Philtrum 
Abnormal ear cartilage
Wide set eyes/Epicanthal folds
Small upper lip
Microcephaly
133
Q

Effect of smoking during pregnancy

A

IUGR
2x more likely for premature delivery
Low birth weight (<5lb)

134
Q

Why does smoking affect pregnancy?

A

Nicotine constricts blood vessels - reducing blood supply to foetus.

Nicotine can cross blood:placenta barrier - affects brain development and impairs cell growth

135
Q

Effect of hyperthermia in pregnancy

A 
Neural tube defects 
Micropthalmia (small eyes)
Cataracts 
Microencephaly 
Craniofacial defects (clefts)
Behavioural problems
136
Q

Effect of cocaine use during pregnancy

A

Spontaneous miscarriage
Premature labour
Difficult delivery

Low birth weight and small head circumference

137
Q

What screening do we carry out for pregnant women in Wales?

A

Hep B
Sickle cell anaemia + thalassaemia
Down’s Syndrome (NT)
Blood group + Ab

138
Q

Features of trinucleotide repeat disorders

A

Symptoms of disorder become more severe/have an early onset with each generation

139
Q

Trinucleotide repeat disorders

A

Myotonic Dystrophy
Huntington’s Disease
Fragile X Syndrome

140
Q

Inheritance pattern for Myotonic Dystrophy

A

Autosomal Dominant

141
Q

Inheritance pattern for Huntington’s Disease

A

Autosomal Dominant

142
Q

Inheritance pattern for Fragile X Syndrome

A

X linked Dominant

143
Q

Features Myotonic Dystrophy

A 
Progressive muscle wasting and weakness 
Slurred speech
Myotonia (unable to relax muscles after use e.g. Jaw locking)
Cataracts
Cardiac conduction defects
144
Q

Breast cancer susceptibility genes

A

BRCA1 (20-30%)

BRCA2 (10-20%)

145
Q

Phenocopy

A

Individual without the specific gene gets the condition

146
Q

Non penetrance

A

Individual with the specific gene does not get the condition

147
Q

Sex limitation

A

Male with specific gene for a condition only affecting females, does not get the condition

148
Q

Variable expression

A

Example

Female with gene for breast cancer gets ovarian cancer

149
Q

Hardy-Weinberg Equation

A

p2 + 2pq + q2 = 1

Where p+q=1

150
Q

Somatic mosaicism

A

Some cells lack the mutation, therefore a more mild phenotype is expressed

151
Q

Constitutional mutation

A

Inherited from a gamete (germline mutation) or occurs soon after fertilisation

152
Q

Chimerism

A

One organism composed of 2 or more populations of genetically distinct cells, originating from different zygotes

153
Q

Chimeric Singleton

A

Where one twin dies and becomes integrated with the other foetus

154
Q

Therapeutic chimerism

A

Haemopoietic stem cell treatment

155
Q

Placental anastomoses

A

Occurs in 8% of dizygotic twins. Gives rise to chimerism

156
Q

Epigenetics

A

Changes in organisms caused by modification of gene expression rather than an alteration of the genetic code itself

157
Q

Genetic Imprinting

A

Gene expression which depends on which parent the gene was inherited from.
Occurs as a result of epigenetics.

158
Q

Maternal inheritance of 15q11-q13

A

Angelman Syndrome

159
Q

Paternal inheritance of 15q11-q13

A

Prader Willi Syndrome

160
Q

Why is folic acid given in pregnancy?

A

Reduces incidence of neural tube defects e.g. spina bifida, acrania, anencephaly

161
Q

Folic acid treatment before/during pregnancy:

A

400 micrograms when trying to conceive and during first 12 weeks of pregnancy.

5mg for women at high risk (Hx of NTD or family Hx)

162
Q

Haemolytic disease of newborn

A

Anaemia
Hyperbilirubinaemia
Kernicterus (bilirubin induced neurological deficit)

163
Q

Prevention of Rhesus Disease

A

Anti-Rh given to rhesus positive mothers after birth and at sensitisation events (e.g. car accident)

164
Q

Combined Test consists of:

A

US measurement of CRL and NT

Biochemical markers: beta hCG in blood and pregnancy associated plasma protein A

165
Q

When must combined test be carried out?

A

10-14wks gestation

166
Q

When is combined test less accurate?

A

Obese women

167
Q

Quadruple test consists of:

A

US measurements of CRL and head circumference
Biochemical markers:
Foetal serum albumin (AFP), hCG, unconjugated estradiol (uE3) and inhibin A

168
Q

Quadruple test results which would suggest high risk pregnancy

A

High AFP = neural tube defect
High hCG = T21
Low uE3 = T21

169
Q

When is quadruple test indicated?

A

When time frame for Combined test is missed

Women with BMI > 40

170
Q

Time frame for Quadruple Test

A

14-20wks gestation

171
Q

What happens if QT/CT gives a high risk result?

A

Mother is offered diagnostic tests - CVS or amniocentesis

172
Q

At what stage in gestation can CVS be carried out?

A

After 11 weeks

173
Q

Risks of CVS

A

> 1% risk of miscarriage

Up to 5% of tests do not give a result

174
Q

Chorionic Villus Sampling

A

Aspitation of chorionic villi through abdomen under US guidance

175
Q

Amniocentesis

A

Aspiration of amniotic fluid

176
Q

Risks of amniocentesis

A

1% risk of miscarriage
1% risk of infection
1% of tests do not give a result

177
Q

At what stage in gestation can Amniocentesis be carried out?

A

After 15 weeks

178
Q

What is the disadvantage of amniocentesis?

A

Takes place late in pregnancy.
If a termination is requested, treatment is:
Foeticide - injection of KCl into foetal heart

179
Q

When is screening for Syphilis, Hep B and HIV carried out for a pregnant woman?

A

8-12 weeks

Can be at any time

180
Q

When is screening for Sickle Cell Anaemia and Thalassaemia carried out for a pregnant woman?

A

0-10weeks

181
Q

When is screening for blood group and rhesus disease carried out for a pregnant woman?

A

8-10 weeks

Can be at any time

182
Q

NIFTY/NIPT

A

Diagnostic test examining maternal blood.
Low risk
Can be carried out on twin pregnancies (only give result for one foetus)

183
Q

CVS and Amniocentesis do not give an accurate result for…

A

Twin/Multiple pregnancies - since there is already a higher risk of miscarriage

184
Q

Features of Autosomal Dominant Inheritance

A

Multiple generations
Males and females affected equally
Incomplete penetrance i.e. unaffected carriers

185
Q

Conditions with Autosomal Dominant Inheritance patterns

A 
Huntington's 
FAP
Familial Hypercholesterolaemia
LQT
Myotonic dystrophy 
Hereditary breast.ovarian cancer 
Marfan's Syndrome
186
Q

Features of Autosomal Recessive Inheritance

A

Usually only one generation affected
Often childhood onset
Common in consanguinous families

187
Q

Conditions with Autosomal Recessive Inheritance patterns

A 
B-Thalassaemia 
Sickle Cell 
Phenylketonuria 
Tay Sachs
Spinal Muscular Atrophy 
MYH Associated Polyposis
188
Q

Recurrence risk after a couple has one child affected with an AR condition

A

25%

189
Q

Features of X-Linked Recessive inheritance

A

Usually only affects males
Affected males can never transmit condition to their sons.
Daughters of affected males are always carriers

190
Q

Examples of X-Linked Recessive conditions

A

Duchenne Muscular Dystrophy
Haemophilia A
Red-Green colour blindness

191
Q

Penetrance

A

Frequency with which the characteristic controlled by a gene is seen in individuals possessing it

192
Q

Pseudodominant

A

Where a recessive condition appears to transmit dominantly.

Usually occurs in consanguinous families

193
Q

Features of X-linked dominant inheritance

A

Higher incidence in females
Affected male gives condition to all daughters and not to sons.
Affected female gives condition to half of her sons and half of her daughters

194
Q

Examples of X-linked Dominant conditions

A

Vitamin D resistant rickets (hypophosphataemic)
Rett’s Syndrome
Fragile X syndrome

195
Q

Incontinentia Pigmenti

A

X linked dominant.

Males die in utero. Females inactivate a chromosome and survive

196
Q

Features of Incontinentia Pigmenti

A 
Blistering (0-4 months)
Wart like rash and hypopigmentation
Alopecia 
Hypodontia (missing teeth)
Dystrophic nails 
Retinal detachment 
Developmental delay/learning disability
197
Q

Features of Y linked inheritance

A

Males only

Often affects fertility - unlikely to be passed on

198
Q

Features of mitochondrial inheritance

A

Transmitted mother to child only

199
Q

Examples of mitochondrial inherited conditions

A

Leber Hereditary optic neuropathy

Chronic progressive external opthalmoplegia

200
Q

Leber Hereditary optic neuropathy

A

Sudden permanent vision loss due to optic atrophy in young adult

Mitochondrial inheritance

Low penetrance - only 50% of male carriers are symptomatic, only 15% of female carriers are symptomatic

201
Q

Chronic progressive external opthalmalgia

A

Weakness of muscles of the eye
Loss of function of eye and eyelid movement.

Mitochondrial inheritance

202
Q

Why does imprinting affect foetal growth?

A

Paternal genome wants to maximise resources for foetus.

Maternal genome wants to minimise resources for foetus.

203
Q

Bechwith-Wiedmann Syndrome

A

Paternally inherited 11p15 mutation (imprinting)

Macroglossia
Neonatal hyperinsulinism (large pancreas)
Large limbs and body
Wine stained skin
Ear creases
Increased risk of cancer
204
Q

Silver Russell Syndrome

A

Maternally inherited 11p15 mutation (imprinting)

Small
Feeding problems 
Hypoglycaemia 
Clinodactyly
Hypospadias
205
Q

Clinodactyly

A

Curved little finger (outward curvature)

206
Q

Hypospadias

A

Urethral opening is in an abnormal position

207
Q

Why is ibuprogen contraindicated in pregnancy?

A

Causes neonatal haemorrhage due to thrombocytopenia

208
Q

Fundal height at 12 weeks gestation

A

Pubic symphysis

209
Q

Fundal height at 20wks gestastion

A

Umbilicus

210
Q

Fundal height at 36wks gestation

A

Xiphoid process of sternum

211
Q

Quadruple test results suggesting high risk of Down Syndrome

A

High hCG and Inhibin A

Low AFP and Estriol

212
Q

Protein responsible for dorsalisation of CNS

A

Wnt and BMP

213
Q

Proteins responsible for caudalisation of CNS

A

Wnt and Retinoic acid

214
Q

Proteins responsible for ventralisation of CNS

A

Shh

Year 2 (17 decks)

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