Essentials Of Pathophysiology Concepts of Altered States 4th Edition By Porth
Essentials Of Pathophysiology Concepts of Altered States 4th Edition By Porth
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Chapter 6- Genetic and Congenital Disorders
Complete Chapter Questions With Answers
Sample Questions Are Posted Below
| 1. | Genetic disorders that involve a single-gene trait are characterized by: | |
| A) | Multifactorial gene mutations | |
| B) | Chromosome rearrangements | |
| C) | Mendelian patterns of transmission | |
| D) | Abnormal numbers of chromosomes | |
| Ans: | C | |
| Feedback: | ||
| Single-gene disorders are characterized by patterns of transmission that follow the Mendelian patterns of inheritance. Multifactorial inheritance involves more than one gene mutation, rearrangement of groups of genes, and uneven numbers of some chromosomes in each cell. | ||
| 2. | In one family, a son was born with polydactyly toes while his sister had polydactyly fingers. In explaining this phenomenon in genetic terms to the parents, which concept should be addressed? | |
| A) | Aneuploidy of genes in all cells | |
| B) | Deficiencies in enzyme synthesis | |
| C) | Heterozygote dominant trait | |
| D) | Variable expressivity of a gene | |
| Ans: | D | |
| Feedback: | ||
| Autosomal dominant disorders are characterized by variable gene penetrance (degree to which the trait is displayed) and expression (differences in how the trait is displayed). Aneuploidy is not a single-gene disorder and does not follow the Mendelian pattern of inheritance. Deficiencies of enzyme synthesis are common in autosomal recessive disorders. X-linked inheritance can be dominant or recessive, but it is not autosomal. | ||
| 3. | A woman who is a carrier for which of the following diseases possesses the greatest likelihood of passing the disease to her future children when heterozygous pairing exists? | |
| A) | Phenylketonuria (PKU) | |
| B) | Tay-Sachs disease | |
| C) | Neurofibromatosis | |
| D) | Cystic fibrosis | |
| Ans: | C | |
| Feedback: | ||
| Neurofibromatosis is an autosomal dominant genetic disorder with a consequent 50% chance of passing the disease to offspring. Tay-Sachs disease, PKU, and cystic fibrosis are autosomal recessive disorders and are manifested only when both members of the gene pair are affected. | ||
| 4. | A 16-year-old male presents to the clinic complaining of headaches, trouble hearing the teacher in the front of the classroom, and ringing in the ears. He also revealed that every time he goes swimming underwater, he gets disorientated (which never happened when he was younger). Given these manifestations, the health care provider is going to start testing for: | |
| A) | Deafness | |
| B) | Neurofibromas | |
| C) | Tay-Sachs disease | |
| D) | Fragile X syndrome | |
| Ans: | B | |
| Feedback: | ||
| NF-2, which is characterized by tumors of the acoustic nerve and multiple meningiomas, is much less common than NF-1. The disorder is often asymptomatic through the first 15 years of life. The most frequent symptoms are headaches, hearing loss, and tinnitus. Infants with Tay-Sachs disease appear normal at birth but begin to manifest progressive weakness, muscle flaccidity, and decreased attentiveness at approximately 6 to 10 months of age. Fragile X syndrome, an abnormality in the X chromosome, is the common cause of inherited intellectual disability. | ||
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