ABC OF CLINICAL GENETICS - PART 10 docx
ABC OF CLINICAL GENETICS - PART 10 docx
... 80
recombinant 101
internet and genetic services 104 –5
British Society for Human Genetics (BSHG) 104
gene-specific information 104
inherited disease databases 104
laboratory services 104 –5
mapping ... on
preimplantation genetic diagnosis. Department of Health, 1999.
Human Genetics Commission. Whose hands on your genes?
Department of Health, 2000.
Human Genetics Commissio...
Chapter 062. Principles of Human Genetics (Part 10) docx
... expression in each
individual founder
Gain -of-
function models due
to overexpression using tissue-
specific promoters
Loss -of-
function models
using anti-
sense and dominant
negative transgenes ... integration of
transgene
Transgenic
Pronuclear
injection of transgene
Variable copy numbers of
transgene
Chapter 062. Principles of
Human Genetics
(Part 10)
Tran...
ABC OF CLINICAL GENETICS - PART 2 ppt
... th
Marfan
syndrome
Achondroplasia
Figure 2.3 Physical measurements
are an important part of clinical
examination
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ABC of Clinical Genetics
16
Molecular cytogenetics
Fluorescence in situ hybridisation (FISH) ... person being tested.
Non-directiveness
Non-directiveness is taken to be a cornerstone of contemporary
genetic counselling practice, and is...
ABC OF CLINICAL GENETICS - PART 3 doc
... detected by
ultrasonography (courtesy of Dr Sylvia Rimmer, Department of
Radiology, St. Mary’s Hospital, Manchester)
acg-05 11/20/01 7:17 PM Page 23
ABC of Clinical Genetics
26
otosclerosis and hereditary ... 11/20/01 7:22 PM Page 30
ABC of Clinical Genetics
28
X
X Y
XX
XX
Ј
XX
Ј
XYXY
X
Ј
Y
Parents
Gametes
Offspring
Carrier female Normal male:
11:
X
Ј
Figure 6 .10 Segrega...
ABC OF CLINICAL GENETICS - PART 4 ppt
... (SCID)
acg-09 11/20/01 7:24 PM Page 40
ABC of Clinical Genetics
42
taken into account in sporadic cases. In the case of gonadal
mosaicism the results of carrier tests will be normal in the
mother of ... cells,
ABC of Clinical Genetics
32
15 15 15 15
Paternal Maternal
De novo
deletion
Gamete
Offspring
Parent
Prader–Willi syndrome
Figure 7.6 Prader–Willi syndrome in offspr...
ABC OF CLINICAL GENETICS - PART 5 pdf
... syndrome AD
Figure 10. 14 Pedigree demonstrating X linked recessive inheritance of
Haemophilia A
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ABC of Clinical Genetics
54
Box 10. 9 Examples of autosomal dominant ... haematuria
Renal failure
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ABC of Clinical Genetics
52
Hypertrophic cardiomyopathy (HOCM) has an incidence
of about 1 in 100 0. Pres...
ABC OF CLINICAL GENETICS - PART 7 pptx
... than 10% , with a
critical period during the third and fourth months of
pregnancy. Affected infants seem to have a high perinatal
mortality rate.
ABC of Clinical Genetics
72
Box 13.1 Examples of ... underlying de Lange syndrome,
ABC of Clinical Genetics
70
Figure 13.9 External ear malformation with preauricular skin tags in
Goldenhar syndrome
Figure 13 .10 The diagnosis...
ABC OF CLINICAL GENETICS - PART 8 ppt
... 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. ␣-thalassaemia is a defect of ␣-globin ... gene.
ABC of Clinical Genetics
84
Table 16.5 Notation of mutations and their effects
Notation of nucleotide changes
1657 G→T G to T substitution at nucleotide 1657
103...
ABC OF CLINICAL GENETICS - PART 9 pps
... (Clinical Genetics
Society, Association of Clinical Cytogeneticists, Clinical
Molecular Genetics Society and Association of Genetic Nurses
and Counsellors). There are also links to a number of ... Counsellors
http://www.agnc.co.uk
Association of Clinical Cytogeneticists
http://www.cytogenetics.org.uk
Clinical Molecular Genetics Society
http://www.cmgs.org.uk
Society for...
abc of clinical genetics - helen m. kingston
... mutations in the collagen
genes COL5A1, COL5A2 and
COL1A1
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ABC of Clinical Genetics
54
Box 10. 9 Examples of autosomal dominant eye
disorders
• Late onset macular dystrophies
•
Best ... prior risk of
Estimation of risk in mendelian disorders
37
1/2
Example 10
1/2
1/2
1/4
1 × 1/4 × 1/2 = 1/8
Risk of affected child
Figure 8.8
Example 11 Example...
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