DNA is the basic building block of genes specific segments of DNA form a gene and many genes form and chromosome
What is the Human Genome Project?
An international effort to map all genes contained in the 46 human chromosomes.
Autosomal recessive
A child must receive a copy of autosomal recessive gene from BOTH parents, no sex difference
25% chance each pregnancy
Autosomal dominant
Child may receive a copy of autosomal dominant gene from either parent, no sex difference
50% chance each pregnancy
X-linked recessive
Females are carries, child receives abnormal gene from mother
Males are affected because they do not have a compensating normal X chromosome
Affected fathers will pass on abnormal genes to their daughters who become carries but not to their son.
T/F: Sickle cell disease follows an autosomal recessive pattern of development
True
T/F: Type O blood follows an autosomal dominant pattern of development
False
T/F: All sons of a father with hemophilia will inherit the disease
False
T/F: Turner syndrome is an example of a numerical abnormality
True
T/F: Fragile X syndrome is the most common form of female intellectual disability.
False
Describe two characteristics typical of multifactorial birth defects
Present and detectable at birth
Single isolated defects
Cleft lip, neural tube defect, HTN
What factors influence the risk for the occurrence of a multifactorial disorder?
Number of affected close relatives
Severity of disorder in other family members
Sex of affected person
Geographic location
Season of year
When should a rubella immunization be administered to a woman of childbearing age?
At least 4 weeks before conceiving
In rx'ing drugs for pregnant women what must he NP balance?
The woman's need for the therapeutic effects of the drug
How the drug will affect the fetus
When a preg woman requires an urgent xray study, her lower abdomen is:
Protected by a lead apron
Why should pregnant women avoid saunas and hot tubs?
Maternal hyperthermia is a teratogen.
Genetic counseling focuses on the entire __
family
Genetic counseling is considered __ because the counselor does not tell thepatient what decision to make.
Non directive
The nurse notes this info on the chromosomal study of an infant with a birth defect: 46, XY. This means that the infant has:
A normal male chromosome analysis
The nurse should expect a preg African American woman to be offered genetic testing for which disorder?
Sickle cell
Parents of a child with an abnormal autosomal recessive disorder want to know whether the problem is likely to recur if they have another child the nurse knows that:
Each pregnancy has a 1 in 4 (25%) change of resulting in another affected child
A woman is 5 weeks pregnant and asks the nurse whether she can take a specific medication to relieve her cold symptoms the nurse's answer is based primarily on:
The pregnancy category of the drug
A pedi nurse is caring for an infant girl with hemophilia A the nurse realizes that:
The mother is a carrier and the father has hemophilia.
