chapter 5: Genetic and Congenital disorders
The tissue that is damaged in Huntington chorea is which of the following?
nerve tissue
The nurse is studying genetic disorders. She learns that an allele is:
one of two members of a gene pair, for a particular trait, in a chromosome pair
rapid cytogenic analysis
percutaneous umbilical cord blood sampling
amniocentesis
withdrawal and analysis of amniotic fluid to detect genetic abnormalities in the fetus
The nurse is teaching a class of pregnant woman about nutrition, emphasizing their need for folic acid. The nurse's rationale for this relates to prevention of which birth defect?
neural tube defects
A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a special diet to restrict phenylalanine intake. When does this diet need to be initiated?
7 to 10 days of age
Klinefelter syndrome
A chromosomal disorder in which males have an extra X chromosome, making them XXY instead of XY. 47
true or false... lost genetic abnormalities are due to drug and environmental effects?
False
true or false... prenatal screening can be used to rule out fetal abnormalities
False
Genetic testing has revealed that a male infant has been born with an extra X chromosome. What are the most likely implications of this finding for the child?
Is likely to have no manifestations of this chromosomal abnormality
fragile X syndrome
Most common form of mental retardation, a mutation of the FMR-1 gene
Select the screening procedure performed on newborns to decrease the risk of intellectual disability and compromised neurological development.
Serum phenylalanine test
Which symptoms support the diagnosis of the autosomal recessive disorder Tay-Sachs disease?
Severe mental deterioration originating in infancy
A nurse practitioner (NP) is assessing a client who wishes to become pregnant. What assessment finding represents the most significant risk for Down syndrome?
The client is 43 years old and has been pregnant 4 times.
Down Syndrome
Trisomy 21
single gene disorders are the result of
a mutant allele at one gene locus
a teratogenic agent produces...
abnormalities during fetal/embryonic life
AFP testing for downs syndrome
afeto protein elevation = neural tube risks
turner syndrome
affects only females. estrogen therapy because of no ovaries
abnormal number of chromosomes
aneuploidy
Folic acid deficiency
cause neural tube defects
A woman gave birth to a small infant with a malformed skull. The infant grows slowly and shows signs of substantial cognitive and intellectual deficits. The child also has facial abnormalities that become more striking as it develops. What might the nurse expect to find in the mother's pregnancy history?
chronic alcohol use
Abnormalities of body structure, function, or metabolism that are present at birth are known as:
congenital
The nurse is preparing to administer a pregnant client's medication when it is noted that the client is prescribed tetracycline for an infection. The nurse should do which of the following?
contact the physician
Which disease is caused by a genetic defect of chloride transport?
cystic fibrosis
genetic defects of chloride transport is...
cystic fibrosis
The nurse is learning about mitochondrial DNA mutations. She learns that they generally affect which tissues and organs?
neuromuscular
multifactorial inheritance disorders are caused by
multiple genes/ environmental factors
embryonic deviation
easily disturbed during period of vulnerability (day 15 to 60 after conception)
A nurse is assessing two children with the same genetic disorder where one child is severely impacted and the other is not. Which genetic characteristic is this an example of?
expressivity
when giving birth to a child with a defect you want to know..
immediate care of affected child and possible future of children having it
Marfan Syndrome
life threatening C.V. risks
Teratogenic substances cause abnormalities during embryonic and fetal development. These substances have been divided into three classes. These classes are called:
radiation; drugs and chemical substances; and infectious agents.
Which health problem may be identified by a TORCH screening test
rubella and herpes
Which assessment finding supports the diagnosis of Turner syndrome?
short stature
translocation
simultaneous breaks in two chromosomes from different pairs with exchange of chromosome parts
Ultrasonography is most likely to detect which fetal abnormality?
skeletal abnormalities
recessive gene inheritance means...
the carrier is a non affected person with a single cop of a recessive gene
if a genetic trait is expressed in the heterozygote...
the trait is said to be dominant
When the mother of an adolescent with Turner syndrome asks the nurse why the physician is prescribing estrogen therapy, the nurse provides which explanation?
to promote secondary sex characteristics
The person's phenotype can best be described as:
traits that are observable or apparent
