Essentials of Medical Genetics for Health Professionals by Laura M. Gunder McClary, Scott A. Martin

By Laura M. Gunder McClary, Scott A. Martin

Necessities of clinical Genetics for health and wellbeing execs is a concise, obtainable advent to clinical genetics for all health and wellbeing professions scholars. in spite of constrained publicity to genetics, scholars can use the sped up procedure during this textual content to realize a base origin of genetics wisdom. This publication starts off with a evaluate of chromosomes, DNA, RNA, protein synthesis, and inheritance styles and maintains with a scientific concentration in response to realizing diversified illness methods. quite a few genetic illnesses are explored, together with what's identified in regards to the genetics concerned, the symptoms of the sickness, and the cures to be had. This ebook additionally covers diagnostic strategies and an outline of embryonic improvement and teratogens. the jobs of genetic counseling and screening, in addition to the moral and criminal matters concerning genetic screening and genetic checking out also are mentioned. entire with said targets, definition of keywords, references, bankruptcy summaries and finish of bankruptcy evaluation questions with solutions, every one bankruptcy is equipped for optimum studying. teacher assets comprise PowerPoint Slides, a TestBank, and a picture financial institution. necessities of clinical Genetics for future health execs won't simply have software within the school room surroundings for well-being professions or scientific scholars, yet training clinicians resembling health professional assistants, nurse practitioners, and physicians who are looking to research extra or revisit genetics also will locate this ebook a precious, resource.

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In a karyotype, the chromosomes are rearranged systematically in pairs, from longest to shortest, and numbered from 1 (the longest) through 22 to represent the autosomes (Figure 2-4). The sex chromosomes are usually set off at the bottom right. The karyotype A B Figure 2-4 Human chromosome painting, in which each pair of chromosomes is labeled by hybridization with a different fluorescent probe. (A) Metaphase spread showing the chromosomes in a random arrangement as they were squashed onto the slide.

Most complex developmental abnormalities affecting several organ systems result from injuries inflicted from the time of implantation of the blastocyst through early organogenesis. “The stage of embryonic development most susceptible to teratogenesis is during the formation of primordial organ systems. Many major defects probably result from faulty gene activity or the deleterious effects of exogenous toxins on the embryo at this time” (Rubin, 2001). The critical period for teratogenic effects is between 3 and 16 weeks of gestation.

The pre-embryonic stage includes all of the changes that occur from fertilization to the time just after an embryo becomes implanted in the uterine wall. During this phase, the zygote undergoes rapid cellular division and is converted into a solid ball of cells called a morula (Figure 3-1). Three to four days after fertilization, repeated cell cleavages yield a total of 16 to 32 cells. By this time, the morula has reached the uterus; during the next three to four days, it floats in the intrauterine fluid as more cell divisions occur.

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