ABC OF CLINICAL GENETICS - PART 4 ppt
ABC OF CLINICAL GENETICS - PART 4 ppt
... in the birth prevalence of
28
24
20
16
12
8
4
6
10
25
17
8
9
10
4
1
2
3
1
1
3
6
22
4
3
4
3
5
1
2
4
22
1
6
5
3
0
8
4
40 60 80 100 120 140 160 180 200
300 > 40 0
40 0
No. of cases
Controls (n = ... (SCID)
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ABC of Clinical Genetics
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taken into account in sporadic cases. In the case of gonadal
mosaicism the results of carrie...
ABC OF CLINICAL GENETICS - PART 2 ppt
... testing
right up until disclosure of results, and a clear plan for follow up.
ABC of Clinical Genetics
10
Box 3 .4 Genetic testing defined
Diagnostic – confirms a clinical diagnosis in a symptomatic
individual
Presymptomatic ... person being tested.
Non-directiveness
Non-directiveness is taken to be a cornerstone of contemporary
genetic counselling practice, and is important in...
ABC OF CLINICAL GENETICS - PART 7 pptx
... 9 2 64 17 41 3
2 42 8 10 244 18 101
3 352 11 45 3 19 46 5
4 265 12 375 20 158
5 298 13 119 21 105
6 42 0 14 220 22 159
7 333 15 1 84 X 43 3
8 228 16 261 Y 30
Table 16.3 Progress in sequencing of human ... neither
ABC of Clinical Genetics
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Figure 14. 2 Shortened limb in Saldino–Noonan syndrome: an autosomal
recessive lethal skeletal dysplasia (courtesy of Dr Sylvia Ri...
ABC OF CLINICAL GENETICS - PART 8 ppt
... Hospital, Manchester)
12 34
Figure 18.5 Semi-automated detection of mutations such as CFTR using
the Gap4 sequence analysis software. (Bonfield et al., Nucleic Acids
Research 14, 340 4– 340 9, 1998) The algorithm ... first-trimester prenatal diagnosis.
The thalassaemias are due to a reduced rate of synthesis of
- or -globin chains, leading to an imbalance in their
production. ␣-tha...
ABC OF CLINICAL GENETICS - PART 3 doc
... Manchester)
Figure 5.5 Possibilities for offspring of a 14; 21 Robertsonian
translocation carrier
21 14
21 14
Carrier of balanced
translocation
Non-viable Non-viable Non-viable
Normal
Balanced
translocation
Down
syndrome
Normal ... caused by a terminal deletion of the
short arm of chromosome 5 (5p-) and Wolf–Hirschhorn
syndrome caused by a terminal deletion of the short arm of
c...
ABC OF CLINICAL GENETICS - PART 5 pdf
... 1,2,6,7,8,12)
Machado-Joseph disease (SCA3)
Dentatorubral-pallidolysian atrophy (DRPLA)
Friedreich ataxia (FA)
Oculopharyngeal muscular dystrophy (OPMD)
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ABC of Clinical Genetics
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predictive ... syndrome AD
Figure 10. 14 Pedigree demonstrating X linked recessive inheritance of
Haemophilia A
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ABC of Clinical G...
ABC OF CLINICAL GENETICS - PART 9 pps
... 1–8(1999)
Centromeric copy
p 44
c
p44SMN
c
SMN
T
NAIPNAIP
Telomeric copy
Figure 18.11 Deletion analysis of the dsytrophin gene by multiplex PCR.
This analysis simultaneously amplifies exons 43 , 45 , 47 , 48 , 50, 51, ... (Clinical Genetics
Society, Association of Clinical Cytogeneticists, Clinical
Molecular Genetics Society and Association of Genetic Nurses
and Counsello...
ABC OF CLINICAL GENETICS - PART 10 docx
... methods 42 –3
clinical signs 42
gene analysis 42 –3
gene products analysis 43
secondary biochemical abnormalities 43
X linked recessive disorders 40 –2
carrier frequency, estimation 36–8
cataracts 54
catecholamines, ... Interest Group 105
genetic services
biochemical genetics 3 4
clinical genetics 2–3
cytogenetics 3
genetic registers 4
molecular genetics 3
organisation...
abc of clinical genetics - helen m. kingston
... 21
21
21
21
21 21
14 14 14 14
Unbalanced Robertsonian
translocation affecting
chromosomes 14 and 21 and
resulting in Down syndrome
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ABC of Clinical Genetics
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The ... the pendrin protein gene
in different people with Pendred syndrome
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ABC of Clinical Genetics
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these disorders. Carrier screening for sickl...
ABC OF CLINICAL GENETICS, THIRD EDITION pot
... 21
14 14 14 14
Unbalanced Robertsonian
translocation affecting
chromosomes 14 and 21 and
resulting in Down syndrome
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ABC of Clinical Genetics
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Molecular cytogenetics
Fluorescence ... 8.10
Obligate
carrier
A
Obligate
carrier
Obligate
c
arrier
Exampe 14
1/2
1/2 1 /4 1 /4
Figure 8.11
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ABC of Clinical Genetics...