Download e-book for kindle: An Introduction to the Principles of Disease by J. B. Walter

By J. B. Walter

New version of this easy-to-read textual content has been up to date and revised to hide new details on scientific genetics, immune reaction, and comprises the most recent findings in AIDS. Acquaints the reader with basic elements of distinctiveness parts together with bacteriology, biochemistry, hematology, radiology, and surgical procedure. basically reproduced photographs, micrographs, and line drawings make clear suggestions offered within the textual content

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The dispersed chromosomes were then stained with Giemsa after they had been pretreated with trypsin. This technique brings out the banding of the chromosomes. The mitosis shown contains 46 chromosomes, each of which is a divided structure joined by a centromere. The individual chromosomes can be cut out with scissors and arranged in pairs as shown in Figure 3-7. Such an arrangement is called a karyotype. (Photograph courtesy of Dr. H. A. ) Diseases Associated with Gross Chromosomal Abnormalities General Pathology 48 having 69 chromosomes).

The presence of additional sex chromosomes is not uncommon. " Some are apparent males, have the genetic constitution 47,XXY, and have chromatin-positive cells. They have small testes that fail to develop at puberty; there is little facial hair; they may have a female type of breast development (gynecomastia); and they are sterile. These features become evident at puberty; the condition is known as Klinefelters syndrome. Another group of patients have the karyotype 47,XXX and are females, usually with normal secondary sex characteristics and sometimes with mental defect.

Some individuals who possess it have a severe disease, whereas others have a minor defect (known as forme fruste) of the disease. In this instance the trait is said to exhibit variable expressivity. Clearly, penetrance and expressivity are closely relat­ ed, but while penetrance is defined in terms of an all-or-none effect, expressivity is variable. Intermediate Inheritance. When the hétérozygote differs from either homozygote, the inheritance is described as intermediate. A good example is sickle cell disease.

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