Prenatal Diagnosis by Mark Evans

By Mark Evans

A complete reference on prognosis and evaluate of reproductive dangers and genetically similar high-risk pregnancies. Authored by way of overseas staff of specialists, this booklet is geared up based on diagnostic technique, resource of reproductive hazard, and procedure less than review. gains the most recent imaging know-how, a evaluate of genetics, molecular biology, and cytogenetics, and unique chapters on counseling, cross-cultural, felony, and moral concerns. (20060804)

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Multifactorial disorders are the result of the interaction between genetic predisposition and external (environmental) factors and their inheritance is based on empirical observations. Chromosome anomalies can be viewed as a generalized effect of multiple gene dosage abnormalities, resulting in a pattern of mental and growth retardation and developmental defects of some organ systems specific to the chromosome involved. In many cases these defects will be lethal in the perinatal period. 16 References 1.

For example, the amino acid Leucine is coded by 6 different codons. Sometimes, however, a single base substitution can cause severe disorders. A common example is sickle cell disease. In this disorder a single base substitution in codon 6 of the β globin chain causes the replacement of 10 FIGURE 1-4 SECTION I Frameshift mutation. glutamic acid by valine. Glutamic acid has 2 COOH groups and 1 NH2 group whereas valine has only 1 COOH group. The charge difference between hemoglobin A and hemoglobin S explains the instability of the latter under specific conditions, causing the sickling phenomenon.

2nd ed. New York and London: Plenum; 1986: 115–183. 9. Hook EB. Rates of chromosomal abnormalities at different maternal ages. Obstet Gynecol. 1981;58:292. 10. Juberg RC. Origin of chromosomal abnormalities. Evidence for delayed fertilization in meiotic nondisjunction. Hum Genet. 1983; 64:122. 11. Jongbloet PH, Mulder AM, Hamers AJ. Seasonality of preovulatory nondisjunction and the etiology of Down syndrome. Hum Genet. 1982;62:134. 12. Eggerman T, Nothen MM, Eiben B, et al. Trisomy of human chromosome 18.

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