Case 7 Flashcards
1
Q
How long does pregnancy normally last?
A
37 - 42 weeks from the first day of your last period
2
Q
When can abortion usually be carried out?
A
During the first 24 weeks
3
Q
Examples of what micro cultures are defined by
A
Education, social class, gender identity, disability etc
4
Q
What is the classification of humans based on genetic characteristics and common nationality?
A
Race
5
Q
What is any group of people who share experiences, language and values that permit them to communicate knowledge not shared by those outside the culture?
A
Culture
6
Q
Do most differences occur WITHIN populations?
A
Yes
7
Q
What are the 9 protected characteristics?
A
age, disability, gender reassignment, marriage and civil partnership, race, religion or belief, sex and sexual orientation
8
Q
What sort of discrimination is it when someone is treated less favourably on racial grounds?
A
Direct
9
Q
What sort of discrimination is it when a provision, criterion or practice is applied to all and puts people
of the same race at a particular disadvantage?
A
Indirect
10
Q
What is meant by genomic imprinting?
A
When only one copy of a gene is active depending on who the gene came from (mother/ father)
11
Q
What is an imprinted copy of a gene?
A
An inactive copy of a gene
12
Q
If a gene is siad to be maternally expressed, which copy is imprinted?
A
The paternal copy
13
Q
How many autosomes do humans have?
A
22 pairs
14
Q
How many sex chromosomes do humans have?
A
1 pair
15
Q
What is it called when the organisational structures/ processes/ practises result in ethnic minorities being treated unfairly?
A
Institutional racism
16
Q
What is it called when people are omitted from mainstream provision on the grounds of their race/ ethnicity?
A
Marginalisation
17
Q
What is the principle of treating everyone equally disadvantages groups and their different needs & situations are denied/ ignored? What problem can this cause?
A
Colour blindness
Some groups may be excluded from services
18
Q
What is victim blaming?
A
Blaming the customs of a religion of other groups for their behaviour
19
Q
Where do 95% of ectopic pregnancies occur?
A
Uterine tubes
20
Q
What is septicaemia?
A
An infection of the blood
21
Q
What is sepsis?
A
The body’s response to infection (serious/ overwhelming/ life-threatening)
22
Q
What sort of inheritance pattern shows male to male transmission and has a 50% offspring risk?
A
Autosomal dominant
23
Q
What is the recurrence risk of an autosomal recessive condition if one child already has it? What must the parents be?
A
25%
Both asymptomatic carriers
24
Q
X linked recessive condition:
If mother is a carrier and father unaffected, how will their children be effected?
A
50% of sons affected
50% of daughters carriers
25
What's uniparental disomy?
2 copies of a chromosome received from a single parent (no copy from the other parent)
26
Which chromosome has uniparental disomy is angelman and prader-willi syndrome?
15 q 11-13
27
Paternal UPD of chromosome 11 (11p15)
Beckwith-wiedermann syndrome
28
Paternal UPD chromosome 15 (15q11-13)
Angelman syndrome
29
Maternal UPD of chromosome 15 (15q11-13)
Prader-willi syndrome
30
What causes mosaicism?
Post-zygotic errors in mitosis
31
What is the 1st patient investigated in a family study called?
Propositus
| Proband
32
What does sensitivity mean?
Ability to correctly identify affected
33
What does specificity mean?
Ability to correctly identify unaffected
34
Explain the meaning of 90% sensitivity
90% true positives
| 10% false negatives
35
Explain the meaning of 90% specificity
90% true negatives
| 10% false positives
36
Arrange blastocyst, zygote, 8 cell stage, morula in order
Zygote
8 cell stage
Morula
Blastocyst
37
Normal sperm count
100 million sperm/ ml of semen
38
Normal sperm motility
>40% motile after 2 hours
| Some motile after 24 hours
39
What's the word describing a series of rapid mitotic devisions with lack of growth between?
Cleavage
40
What's placenta accreta?
Abnormal invasion of endometrium and myometrium of uterus
41
What converts bilayered blastula into a trilaminar embryo?
Gastrulation
42
During gastrulation the notochord comes into contact with ectoderm, causing?
Start of neuralation
43
What is the first sign of gastrulation?
Formation of primitive streak
44
What does the bilaminar embryo consist of?
Epiblast and hypoblast
45
What does the trilaminar embryo consist of?
Ectoderm
Mesoderm
Endoderm
46
Name 11 mesodermal derivatives
```
Cranium
Dentine
Muscles of head
Muscle of viscera
Blood and lymph cells
Primordial heart
Pericardium
Peritoneum
Dermis (skin)
Adrenal cortex
Urogenital system
```
47
Name endodermal derivatives
Epithelium of GIT, liver, pancreas, resp tree
48
What's spina bifida?
Defect in closure of neural tube
| Malformation of brain and spinal cord
49
What to wnt proteins do?
Induce ectodermally/ mesodermally derived tissues
50
What do sonic hedgehog proteins do?
Induce neural patterning
| Patterns somites
51
What do TGFbeta do?
Regulate cell differentiation
52
In neurulation, what is the ectoderm divided into?
Epidermis
Neural crest
Neural tube
53
What is the prosencephalon?
Forebrain
54
What is the mesencephalon?
The midbrain
55
What is the rhombencephalon?
The hindbrain
56
What are the 5 secondary brain vesicles?
```
(Mike Mackey makes divine turkey)
(Inferior)
Myelencephalon
Metencephalon
Mesencephalon
Diencephalon
Telencephalon
(Superior)
```
57
What genes specify somites unique positional values along axis?
E.g. Thoracic vertebrae have ribs, lumbar do not
Hox (homeotic) genes
58
3 different regions of somites?
Sclerotome
Myotome
Dermatome
59
What does sclerotome form?
Cartilage of axial skeleton
60
What does myotome form?
Muscles of rib cage/ limbs/ back
61
What does dermatome form?
Cells that contribute to connective tissue of dermis
62
3 main principles of teratogenesis
Dosage
Time and length of exposure
Genotype of embryo
63
When is the greatest risk of teratogenesis?
Week 3-11
64
When do most malformations occur?
Week 3-8
65
What is a syndrome?
Pattern of malformations occurring together
| Specific common cause
66
What's triploidy? How many chromosomes?
3 copies of each chromosome
| 69 chromosomes
67
What's trisomy? How many chromosomes?
Single extra chromosome
| 47 chromosomes
68
Signs and symptoms of cri du chat syndrome
Catlike cry
Microcephaly
Mental retardation
Congenital heart problems
69
What's eugenics?
Science of improving a population
By controlled breeding
To inc occurrence of desirable heritable characteristics
70
Effects of congenital rubella syndrome
Cataracts
Cardiac defects
Deafness
Mental retardation
71
Effect of tobacco on foetus in pregnancy
Can cause intrauterine growth restriction IUGR
Doubles rate of premature delivery
Nicotine:
Affects brain development
Impairs cell growth
Constricts placental blood vessels = less blood flow to infant
72
What sort of bond are dark bands rich in?
AT
| Dark ATtic
73
When's the 1st, 2nd and 3rd trimester?
1st trimester: week 1 – 12
2nd trimester: week 13 – 28
3rd trimester: week 29 – 40
74
Above what age is considered to increase your risk of having a baby with Down syndrome significantly?
35
20 years of age has a risk of one in 1,500
30 years of age has a risk of one in 800
35 years of age has a risk of one in 270
40 years of age has a risk of one in 100
45 years of age has a risk of one in 50 or greater
75
How is the first two weeks of gestation split up into zygote, modula and blastocyst?
zygote: day 1-3
morula: day 4-7
blastocyst: day 8-14
76
What is capacitation?
Removal of proteins of acrosome plasma membrane, swinging movement of sperm head and whipping movement of flagellum
Lasts around 7 hours
So that the sperm can penetrate the corona radiata
And for acrosome reaction to occur
77
How long is sperm viable for within the female reproductive tract?
48hours
78
For how long after ovulation is the oocyte viable for fertilisation?
24hours
79
What is polyspermy?
Egg that has been fertilised by more than 1 sperm
80
How come the size has not varied a great deal from zygote to blastocyst but the number of cells has?
Cleavage - series of rapid mitotic divisions with lack of growth between divisions
81
How many blastomeres (type of cell) make up a zygote, modula and blastocyst?
zygote - 1 blastomeres
morula - 16 blastomeres
blastocyst - 32 blastomeres
82
How is the mesoderm formed?
Invagination and lateral migration of epiblast cells
83
What is the notochord?
Mesodermal hollow tube extending from primitive node
84
When is the notochord process formation complete?
| Describe what happens as it was elongating
Day 20
| Notochord process elongation parallels regression of primitive streak
85
What is the mildest form of spina bifida? what are its signs/ symptoms?
Spina bifida occulta
Dimple/ tuft of hair
Vertebrae do not fuse dorsally - no pain/ neurological disorder
86
What are somites?
Paired blocks of mesoderm either side of neural tube at all levels
87
X linked recessive condition:
| If mother is not affected (not even a carrier) and father is affected, how would it affect the children?
No affected sons
| All daughters are carriers
88
What are the 3 consequences of fertilisation?
Restoration of diploid number
Sex determination
Induction of cleavage
89
What does the hypoblast give rise to?
Endoderm
90
What does the epiblast give rise to?
Ectoderm and mesoderm
91
What is the cortical reaction and what is its function?
Release of cortical granules from oocyte
| Slow block of polyspermy
92
What are the stages of the cell cycle, which is missing in cleavage?
M phase: Prophase, Metaphase, Anaphase, Telophase (PMAT - mitosis) and Cytokinesis
G1 phase - cell growth
S phase - DNA replication
G2 phase - Preparation for mitosis
G1 phase - cell growth missing in cleavage
93
What is made from the ectoderm?
```
EPIDERMIS
Epidermis
Hair
Nails cutaneous
Lens
Ant pit gland
Tooth enamel
```
```
NEURAL CREST - PNS
Medulla of adrenal glands
Melanocytes
Cartilage
Bone
Parasympathetic nerves of gut
```
```
NEURAL TUBE - brain
Post pit gland
Retina
Spinal cord
Motor neurons
```
Pineal body
Mammary glands
Inner ear
Cranial sensory ganglia and nerves
94
What does variable expression mean?
Signs and symptoms differ between different sufferers
95
What does incomplete penetrance mean?
Some with the mutation do not develop features of the disorder
96
What is Tay sachs?
Mutation in HEX-A gene on chromosome 15
for hexosaminidase enzyme
= fatty buid up in brain
97
What is the commonest childhood neuromuscular condition?
Duchene muscular dystrophy
98
What are the manifestations of beckwith-wiedermann syndrome?
```
Accelerated growth
Macroglossia
Umbilical hernia
Omphalocele (hernia into umbilical cord)
Neonatal hypoglycaemia
Increased cancer risk
```
99
What are the manifestations of prader-willi syndrome?
```
Developmental delay
Learning difficulties
Insatiable appetite
Obesity
hypotonia, feeding difficulties, poor growth in babies
```
100
What are the manifestations of angelman syndrome?
```
Developmental delay
Intellectual disability
Speech impairment
Microcephaly
Seizures
Happy demeanour
Hand flapping
```
101
What is mosaicism?
2 or more cell lines with different genetic/ chromosomal constitutions within a single individual/ tissue
Occurs after fertilisation
102
If both parents are carriers of an autosomal recessive condition, what chance do their unaffected children have of being carriers too?
2/3
| *of unaffected children
103
What is the chromosomal abnormality in Turners syndrome?
| What are the clinical manifestations?
Monosomy X
Short stature
Infertility due to incomplete ovarian development
Approx. 10% risk of coarctation of the aorta
Normal intelligence
Almost normal life expectancy
104
What is the chromosomal abnormality in Patau syndrome?
| What are the clinical manifestations?
```
Trisomy 13
High mortality rate
Congenital heart defects
Cleft palate
Microcephaly
Neural tube defects
```
105
What is the chromosomal abnormality in DiGeorge syndrome?
| What are the clinical manifestations?
Deletion on 22q11
Heart defects
Learning difficulties
Cleft palate
106
```
What type of inheritance do the following show?
Huntingtons disease
Marfan syndrome
Familial hypercholesterolaemia
Familial adenomatous polyposis
Hereditary breast/ ovarian cancer
Long QT syndrome
```
Autosomal dominant
107
What type of inheritance do the following show?
Cystic fibrosis
Sickle cell anaemia
Tay sachs
Autosomal recessive
108
What type of inheritance do the following show?
Duchenne muscular dystrophy
Haemophilia A
Red-green colour blindness
X linked recessive
109
What is teratogenesis?
Process by which congenital malformations are produced in an embryo/ foetus
110
What's the difference between malformation, disruption and deformation?
Malformations occur during formation of structures, caused by environmental/ genetic factors
Disruptions alter pre-existing structures by destructive processes
Deformation - mechanical factors mould foetal parts over prolonged period
111
What's an abortus?
Aborted foetus weighing less than 500g
112
What is the chromosomal abnormality in Edwards syndrome?
| What are the clinical manifestations?
Trisomy 18 (E for Edwards and eighteen)
Small, abnormally shaped head
Long fingers that overlap, with underdeveloped thumbs and clenched fists
Cleft lip and palate
Exomphalos (where the intestines are held in a sac outside the tummy)
Heart and kidney problems
Feeding problems – leading to poor growth
Breathing problems
Hernias in the wall of their stomach
Bone abnormalities – e.g. scoliosis
Frequent infections of the lungs and urinary system
Severe learning disability
113
What's a fragile site codon?
CGG repeats
| Liable to microdeletions
114
What can exposure to radiation in pregnant women result in?
```
Microcephaly
Skull defects
Spina bifida
Blindness
Cleft palate
Limb defects
```
115
Which is the smallest/ largest chromosome?
smallest: chromosome 21
largest: chromosome 1
116
What sort of bond are light bands rich in?
| What do light bands represent?
GC
(Dark Attic)
Less condensed chromatin - transcriptionally active
117
How can trisomy arise?
Non-disjunction at meiosis I resulting in 50% of cells trisomic and 50% monosomic
Non-disjunction at meiosis II resulting in 50% of cells ok, 25% monosomic and 25% trisomic
118
What are the 2 mechanisms at fertilisation of producing triploidy?
Diandry - monoploid oocyte fertilised by diploid sperm/ 2 monoploid sperms
Digyny - diploid oocyte fertilised by monoploid sperm
119
What is a barr body?
Condensed X chromosome - not totally inactive
