CURRENTLY TESTING SOLUTIONS OF Exam 1 Patho- NURS
8022 EXAM QUESTIONS WITH ACTUAL CORRECT DETAILED
ANSWERS
DNA code is transported from the nucleus to the cytoplasm; and protein is subsequently formed
Transcription and translation
transcription and translation (DNA code is transported from the nucleus to the cytoplasm, and protein is
subsequently formed.). Both are mediated by ____.
RNA
What site does protein synthesis occur?
Ribosome
This type of fetus do not survive or are stillborn or spontaneously aborted
triploid and tetraploid fetuses
Manifestations: mental challenges, low nasal bridge, epicentral folds, protruding tongue, flat, low set
ears, poor muscle tone. Best known is Trisomy 21, Down syndrome.
Autosomal Aneuploidy
One of the most common aneuploidy; "meta females", have three X chromosomes; symptoms worsen
with each additional x
Trisomy X
Females only have one X chromosome; •X chromosome that is usually inherited from the mother (75%)
often times rec'd paternally.
Turner Syndrome
•Chromosome breakage or loss of DNA. Example: Cri du chat syndrome. Deletion, duplication,
translocation, or inversion?
Deletions
Excess genetic material; usually have less serious consequences. Deletion, duplication, translocation, or
inversion?
Duplications
, •Chromosomal rearrangement in which a chromosome segment is inverted: ABCDEFG becomes
ABEDCFG
•Usually affects offspring. Deletion, duplication, translocation, or inversion?
Inversion
The interchange of genetic material between non homologous chromosomes. Deletion, duplication,
translocation, or inversion?
Translocation
A specific type of translocation. •Long arms of two nonhomologous chromosomes fuse at the
centromere, forming a single chromosome; is common in Downs syndrome.
•Normal but have 45 chromosomes only in each cell.
•Offspring have serious deletions or duplications
Robersonian
A ________ is usually the first person in the family diagnosed or seen in a clinic
Proband
_____ is a Variation in a phenotype associated with a particular genotype; Can be caused by modifier
genes, environmental factors, and mutations. example: von Recklinghausen disease (type 1
neurofibromatosis)- autosomal dominant ; Mutation in normal tumor-suppressor gene, leads to tumor
formation
Expressivity varies from brown spots on the skin to malignant tumors, scoliosis, gliomas, and neuromas.
Expressivity
rare; many individuals are carriers; example: cystic fibrosis: gene forms sodium channels with defective
transport
Autosomal Recessive Inheritance
Because a father can give a son only a Y chromosome, the trait is never transmitted from father to son.
More males than females. appearance of skipped generation. Example: Duchenne muscular dystrophy
which is a deletion of DMD gene causes dystrophin not to work properly; consequently muscle cells
don't survive
X Linked Inheritence
____ is that Number of new cases of a disease reported during a specific period ( typically 1 year)
divided by the number of individuals in the population
Incidence rate
____ is the Proportion of the population affected by a disease at a specific point in time
Prevalence rate
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