What genetic disorder is the result if an individual possesses an ...

[Engineer]

What genetic disorder is the result if an individual possesses an XXY chromosome configura-tion?
 
  a. Turner
  b. Klinefelter
  c. Down
  d. Fragile X

Question 2

A patient demonstrates severe mental retardation caused by a deletion of part of chromosome 5. What genetic disorder will the nurse see documented in the chart?
 
  a. Prader-Willi syndrome
  b. Down syndrome
  c. Cri du chat syndrome
  d. Trisomy X

[Benayers]

Answer to Question 1

ANS: B
Individuals with at least two X chromosomes and one Y chromosome in each cell (47 XXY kar-yotype) have a disorder known as Klinefelter syndrome. A condition with the presence of a sin-gle X chromosome and no homologous X or Y chromosome, so the individual has a total of 45 chromosomes, is known as Turner syndrome. Down syndrome is a trisomy. Fragile X syndrome is due to a break or a gap in a chromosome, not an extra chromosome.

Answer to Question 2

ANS: C
Cri du chat syndrome means cry of the cat and describes the characteristic cry of the affected child. Another symptom of the disorder is mental retardation. The disease is caused by a deletion of part of the short arm of chromosome 5. Prader-Willi syndrome is characterized by short stat-ure, obesity, and hypogonadism. Down syndrome does cause mental retardation but is due to chromosome 21, not chromosome 5. Trisomy X can result in mental retardation but is due to an extra X chromosome.

[Engineer]

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