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) 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 carrie...
Ngày tải lên: 10/08/2014, 14:22
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...
Ngày tải lên: 10/08/2014, 14:22
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 74 Figure 14. 2 Shortened limb in Saldino–Noonan syndrome: an autosomal recessive lethal skeletal dysplasia (courtesy of Dr Sylvia Ri...
Ngày tải lên: 10/08/2014, 14:22
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...
Ngày tải lên: 10/08/2014, 14:22
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...
Ngày tải lên: 10/08/2014, 14:22
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) acg-10 11/20/01 7:27 PM Page 45 ABC of Clinical Genetics 46 predictive ... syndrome AD Figure 10. 14 Pedigree demonstrating X linked recessive inheritance of Haemophilia A acg-10 11/20/01 7:27 PM Page 52 ABC of Clinical G...
Ngày tải lên: 10/08/2014, 14:22
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...
Ngày tải lên: 10/08/2014, 14:22
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...
Ngày tải lên: 10/08/2014, 14:22
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 acg-05 11/20/01 7:17 PM Page 21 ABC of Clinical Genetics 58 The ... the pendrin protein gene in different people with Pendred syndrome acg-10 11/20/01 7:27 PM Page 54 ABC of Clinical Genetics 44 these disorders. Carrier screening for sickl...
Ngày tải lên: 08/04/2014, 13:04
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 acg-05 11/20/01 7:17 PM Page 21 ABC of Clinical Genetics 16 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 acg-08 11/20/01 7:23 PM Page 37 ABC of Clinical Genetics...
Ngày tải lên: 29/06/2014, 09:20