ABC OF CLINICAL GENETICS - PART 7 pptx

... 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 teratogens Drugs • Alcohol • Anticonvulsants phenytoin sodium ... parents acg-14 11/20/01 7: 37 PM Page 73 78 The DNA molecule is fundamental to cell metabolism and cell division and it is also the basis for inherit...

Ngày tải lên: 10/08/2014, 14:22

... Chapter 005. Principles of Clinical Pharmacology (Part 7) Renal Disease Renal excretion of parent drug and metabolites is generally accomplished by ... in the elderly because of altered pharmacokinetics and pharmacodynamics, the frequent use of multidrug regimens, and concomitant disease. For example, use of long half-life benzodiazepines ... of lidocaine is reduce...

Ngày tải lên: 06/07/2014, 08:20

... centiles WEIGHT kg years 40 35 30 25 20 15 10 120 125 130 135 140 145 150 155 160 165 170 175 180 185 190 195 5 6 7 8 9 10 11 12 13 14 15 16 17 5 6 7 8 9 10 11 12 13 14 15 16 17 200 155 160 165 170 175 180 185 190 195 200 115 110 105 100 95 90 105 100 95 90 85 80 75 70 65 60 55 50 45 40 35 30 25 20 15 10 HEIGHT cm 5-1 8 ... th Marfan syndrome Achondroplasia Figure 2.3 Ph...

Ngày tải lên: 10/08/2014, 14:22

... 16– 37 110–500ϩ acg- 07 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 Segregation of ... tetralogy of Fallot. Figure 5.13 Possibilities for offspring of a 7; 11 reciprocal translocation carrier 71 1 71 1 Normal Balanced 7; 11 translocation Parent with balanced...

Ngày tải lên: 10/08/2014, 14:22

... (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 of...

Ngày tải lên: 10/08/2014, 14:22

... 10.5 Frequency of cystic fibrosis mutations screened in the North-West of England Mutation Frequency (%) G85E 0.3 R117H 0 .7 621 ϩ 1G→T 1.0 1 078 delT 0.1 ⌬I5 07 0.5 ⌬F508 88.0 171 7- 1 G→T 0.3 G542X ... 1,2,6 ,7, 8,12) Machado-Joseph disease (SCA3) Dentatorubral-pallidolysian atrophy (DRPLA) Friedreich ataxia (FA) Oculopharyngeal muscular dystrophy (OPMD) acg-10 11/20/01 7: 27 PM P...

Ngày tải lên: 10/08/2014, 14:22

... 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 16 57 G→T G to T substitution at nucleotide 16 57...

Ngày tải lên: 10/08/2014, 14:22

... (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 ... population groups. ABC of Clinical Genetics 98 Figure 18.12 Flourescence in situ hybridisation in a female carrier of a Duchenne muscular dystrophy mutation involving deleti...

Ngày tải lên: 10/08/2014, 14:22

... diagnosis 77 prenatal diagnosis 11, 73 7 amniocentesis 75 , 76 chorionic villus sampling 75 , 77 disorder treatment 74 fetal blood and tissue sampling 75 , 77 genetic markers 12 identifying risk 73 –4 indications ... 91 proto-oncogenes 56 7 psychoses 66 7 psychosocial issues, genetic counselling 8–10 pulse-field electrophoresis (PFGE) 93 Index 118 acg-ind 11/20/01 8: 07 PM...

Ngày tải lên: 10/08/2014, 14:22

... results of data analysis). A host of software tools are available for data analysis, each having partic- ular strengths and weaknesses. Because of the rapid de- velopment in all aspects of fMRI-based ... Imaging 99 any data analysis software. In event-related designs, the averaging of the effects of multiple stimulus pre- sentations of a given type is done explicitly in software...

Ngày tải lên: 14/08/2014, 11:20