Genetic and Congenital Disorders
Genetic and Congenital Disorders ( 4 Questions)
A nurse is assessing a newborn who has Down syndrome. The nurse observes that the newborn has slanted eyes, a flat nose bridge, a protruding tongue, and a single palmar crease. The nurse recognizes that these findings are indicative of what type of chromosomal disorder?
Down syndrome is a chromosomal disorder that occurs when there is an extra copy of chromosome 21 in the cells. This can result in physical and mental developmental delays and various health problems. The features that the nurse observed are typical of Down syndrome, such as slanted eyes, a flat nose bridge, a protruding tongue, and a single palmar crease.
"Monosomy X." Turner syndrome is a chromosomal disorder that occurs when there is a missing or partially missing X chromosome in females. This can result in short stature, infertility, heart defects, and other health problems. The features that the nurse observed are not typical of Turner syndrome, which may include a webbed neck, a low hairline, a broad chest, or swollen hands and feet.
"XXY." Klinefelter syndrome is a chromosomal disorder that occurs when there is an extra X chromosome in males. This can result in low testosterone levels, infertility, gynecomastia, and other health problems. The features that the nurse observed are not typical of Klinefelter syndrome, which may include tall stature, small testes, sparse body hair, or learning difficulties.
"Deletion of 5p." Cri du chat syndrome is a chromosomal disorder that occurs when there is a deletion of part of the short arm of chromosome 5. This can result in intellectual disability, microcephaly, facial abnormalities, and other health problems. The features that the nurse observed are not typical of Cri du chat syndrome, which may include a high-pitched cat-like cry, epicanthal folds, low-set ears, or a small jaw.
Choice A reason "Trisomy 21." Down syndrome is a chromosomal disorder that occurs when there is an extra copy of chromosome 21 in the cells. This can result in physical and mental developmental delays and various health problems. The features that the nurse observed are typical of Down syndrome, such as slanted eyes, a flat nose bridge, a protruding tongue, and a single palmar crease.
Choice B reason:
"Monosomy X." Turner syndrome is a chromosomal disorder that occurs when there is a missing or partially missing X chromosome in females. This can result in short stature, infertility, heart defects, and other health problems. The features that the nurse observed are not typical of Turner syndrome, which may include a webbed neck, a low hairline, a broad chest, or swollen hands and feet.
Choice C reason:
"XXY." Klinefelter syndrome is a chromosomal disorder that occurs when there is an extra X chromosome in males. This can result in low testosterone levels, infertility, gynecomastia, and other health problems. The features that the nurse observed are not typical of Klinefelter syndrome, which may include tall stature, small testes, sparse body hair, or learning difficulties.
Choice D reason:
"Deletion of 5p." Cri du chat syndrome is a chromosomal disorder that occurs when there is a deletion of part of the short arm of chromosome 5. This can result in intellectual disability, microcephaly, facial abnormalities, and other health problems. The features that the nurse observed are not typical of Cri du chat syndrome, which may include a high-pitched cat-like cry, epicanthal folds, low-set ears, or a small jaw.