PATHOPHYSIOLOGY
Inserting bone marrow cells into an individual who produces abnormal erythrocytes
is an example of what type of therapy? - Somatic cell
DNA replication requires the enzyme DNA polymerase to: - Travel along the single
DNA strand, adding the correct nucleotide to the new strand
Transcription is best defined as a process by which: - RNA is synthesized from a
DNA template.
The purpose of a staining technique of chromosomes such as Giemsa is to: - Allow
for the numbering of chromosomes and the identification of variations.
An amniocentesis indicates a neural tube defect when an increase in which protein is
evident? - Alpha fetoprotein
An amniocentesis is recommended for pregnant women who: - Have a family history
of genetic disorders
The most clinically useful technique for prenatal diagnosis of chromosomal
abnormalities at 3 months' (12 weeks') gestation is: - Chorionic villus sampling
The term for an error in which homologous chromosomes fail to separate during
meiosis or mitosis is: - Nondisjunction
Which clinical manifestations would be expected for a child who has complete
trisomy of the twenty-first chromosome? - An IQ of 25 to 70, low nasal bridge,
protruding tongue, and flat, low-set ears
What is the most common cause of Down syndrome? - Maternal nondisjunction
What syndrome, characterized by an absent homologous X chromosome with only a
single X chromosome, exhibits features that include a short stature, widely spaced
nipples, and webbed neck? - Cri du chat
, A person with 47, XXY karyotype has the genetic disorder resulting in which
syndrome? - Klinefelter
What is the chromosomal variation that causes Klinefelter syndrome? -
Nondisjunction of X chromosome in the mother
What is the second most commonly recognized genetic cause of mental retardation? -
Fragile X syndrome
What is the blood type of a person who is heterozygous, having A and B alleles as
codominant? - AB
A couple has two children diagnosed with an autosomal dominant genetic disease.
What is the probability that the next child will have the same genetic disease? - One
half
When a child inherits a disease that is autosomal recessive, it is inherited from: - Both
parents
People diagnosed with neurofibromatosis have varying degrees of the condition
because of the genetic principle of: - Expressivity
Which genetic disease has been linked to a mutation of the tumor-suppressor gene? -
Retinoblastoma
Cystic fibrosis is caused by what type of gene? - Autosomal recessive
Which is an important criterion for discerning autosomal recessive inheritance? -
Consanguinity is sometimes present.
Consanguinity refers to the mating of persons: - Having common family relations
Males, having only one X chromosome (as is expected), are said to be: - Hemizygous