Figure 6-8 The process of sex determination and development: establishment of chromosomal sex at fertilization; commitment to the male or female pathway of gonadal differentiation; sex-specific differentiation of internal and external…
Figure 11-5 Scanning electron micrographs of red cells from a patient with sickle cell disease. A, Oxygenated cells are round and full. B, The classic sickle cell shape is produced only when…
The wild-type allele is denoted by uppercase R, a mutant allele by lowercase r. As seen in the table, when both parents of an affected person are carriers, their children’s…
*The values of a, b, c, and d are derived from a random sample of the population, divided into those with and without the susceptibility genotype, and then examined for…
Figure 12-16 Pseudohypertrophy of the calves due to the replacement of normal muscle tissue with connective tissue and fat in an 8-year-old boy with Duchenne muscular dystrophy. See Sources & Acknowledgments….
Figure 13-7 The molecular treatment of inherited disease. Each molecular therapy is discussed in the text. ADA, Adenosine deaminase; ASO, antisense oligonucleotide; ERT, enzyme replacement therapy; Hb F, fetal hemoglobin; mRNA, messenger…
Figure 17-1 A, Amniocentesis. A needle is inserted transabdominally into the amniotic cavity, and a sample of amniotic fluid (usually approximately 20 mL) is withdrawn by syringe for diagnostic studies (e.g.,…
Figure 15-5 Schematic diagram of the function of the Ret receptor, the product of the RET proto-oncogene. Upon binding of a ligand (L), such as glial-derived growth factor or neurturin, to the…
Figure 14-8 The clinical consequences of dysregulated growth in a child with Proteus syndrome, a congenital segmental overgrowth disorder affecting his face, abdomen, and right leg. Affected children are usually normal-appearing at…
