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Pathophysiology The advent of molecular markers for different portions of chromosome 21 provided considerable information about when and how the extra chromosomal material arises in Down syndrome; and the Human Genome Project has provided a list of the approximately 230 genes found on chromosome 21. In contrast, much less is known about why increased gene dosage for chromosome 21 should produce the clinical features of Down syndrome. For trisomy 21 (47,XX+21 or 47,XY+21), cytogenetic or molecular markers that distinguish between the maternal and paternal copies of chromosome 21 can be used to determine whether the egg or the sperm contributed the extra copy of chromosome 21.
Explain why this parent and the grandparents are phenotypically unaffected. C. What is the likelihood that the unborn child will be affected? " Questions A. What is the rate of occurrence of Down syndrome in the general population? What are some of the its common clinical features? B. What major genetic abnormalities are associated with Down syndrome? How might these abnormalities lead to the clinical features of the syndrome? C. How might this woman's age contribute to her risk of having a child with Down syndrome?
Both cytogenetic and molecular polymorphisms can be used to determine the stage and the parent in which nondisjunction occurred. (Reproduced, with permission, from Thompson MW et al: Genetics in Medicine, 5th ed. ) Several theories have been proposed to explain why the incidence of Down syndrome increases with advanced maternal age (Figure 2â 13). Most germ cell development in females is completed before birth; oocytes arrest at prophase of meiosis I (the dictyotene stage) during the second trimester of gestation.