D115 master set-Advanced Pathophysiology for the Advanced Practice Nurse

Which type of genetic disease affects males more frequently than females? - Sex-Linked recessive. Since males only have one X and one Y, if the affected chromosome has the illness, it will be expressed. In which two conditions are chromosomal abnormalities the leading known cause? - Intellectual disability and fetal miscarriage. Chromosome abnormalities are the leading known cause of intellectual disability and fetal miscarriage. What are three examples of prenatal diagnostic studies? - Chorionic villus sampling (CVS), amniocentesis, and preimplantation genetic testing (PGT) are examples of prenatal diagnostic studies and are performed in vitro. CVS is a form of genetic testing that provides genetic information found in utero and is usually performed between weeks 11 and 14 of pregnancy. An amniocentesis is a form of genetic testing that evaluates amniotic fluid and is usually performed during the second trimester, between weeks 15 and 20 of pregnancy. PGT is performed on the embryo prior to implantation. Which genetic disorder is characterized by the presence of a zygote having one chromosome with a normal complement of genes and one chromosome with a missing gene? - Cri du chat syndrome (translated as "cry of the cat") is caused by a DNA deletion. This term describes the cry often heard from a baby affected by the syndrome. Cri du chat syndrome can present as a microcephalic, low birth-weight baby with a piercing cry. How can an X-linked recessive disease skip generations? - The disease can be transmitted through female carriers. Since females have two copies of the X chromosome, the mother may provide an unaffected X to a daughter or son. Furthermore, a daughter may not show signs of the disease