Review Questions Flashcards
(28 cards)
all of the following are true about DNA EXCEPT?
it is present in the cytoplasm of every cell
segments or sequences of DNA that determine specific traits or characteristics are called
genes
if a cell has a missing chromosome, that cell is referred to as
andeuploid
which one of the following is an “address” of a gene along a chromosome that allows geneticists to locate a defective gene?
10p12
which one of the following describes when a chromosome breaks and is reinserted in the wrong location?
inversion
if a gene is “expressed, “ that means the trait carried by the gene will
be seen in the individual
many genetic disorders demonstrate signs and symptoms that differ among affected individuals. this is known as
variable expressivity
all of the following are true about autosomal recessive disorders EXCEPT:
affected individual usually have one unaffected parent
what term is used to describe the visible characteristics that are created by the gene codes?
phenotype
a collection of signs and symptoms that occur together and when concurrent lead to the diagnosis of the condition is called a(n)
syndrome
malformation
all of the following are characteristics of Papillon-Lefevre syndrome EXCEPT
it is characterized by the lack of an enzyme called catalase
patients with ectodermal dysplasia
a. have scant eyebrows and sparse fine hair
b. develop fevers of unknown origin
c. have conical shaped and numerous missing teeth
d. All of the above
which one of the following is associated with paramedian lip pits?
van der Woude syndrome
how is cherubism transmitted?
autosomal dominant
All of the following are true about Cleidocranial dysplasia EXCEPT:
a. it is also known as Crouzon’s syndrome
Cranisynostoses
a. involve premature closure of cranial sutures
all of the following characterized Treacher-Collins syndrome EXCEPT:
there is hyperplasia of the zygomatic bone
which of the following is not a feature of nevoid basal cell carcinoma syndrome?
coronoid hyperplasia
which one of the following is false regarding osteogenesis imperfect?
dental manifestations include supernumerary and conical teeth
what group of inherited skeletal defects, caused by a deficiency in osteoclast function, results in defective bone remodeling and a significant increase in bone density?
ostiopetrosis
Café-au-lait pigmentation (spots) is
present in McCune-Albright syndrome
the most significant manifestation of Gardner’s syndrome is
colon polyps that develop in the second decade of life
Peutz-Jegher’s syndrome is characterized by all of the following EXCEPT:
there is mutation of the keratin 4 and 13 genes
a benign tumor-like growth made up of normal mature cells in an abnormal number or distribution is known as a(n)
hamartoma