Chapter 3 - Developmental and Genetic Influences on Child Health Promotion Flashcards
Which genetic term refers to a person who possesses one copy of an affected gene and one copy of an unaffected gene and is clinically unaffected?
a. Allele
b. Carrier
c. Pedigree
d. Multifactorial
b. Carrier
Which genetic term refers to the transfer of all or part of a chromosome to a different chromosome after chromosome breakage?
a. Trisomy
b. Monosomy
c. Translocation
d. Nondisjunction
c. Translocation
Which is a birth defect or disorder that occurs as a new case in a family and is not inherited?
a. Sporadic
b. Polygenic
c. Monosomy
d. Association
a. Sporadic
The nurse is assessing a neonate who was born 1 hour ago to healthy white parents in their early forties. Which finding should be most suggestive of Down syndrome?
a. Hypertonia
b. Low-set ears
c. Micrognathia
d. Long, thin fingers and toes
b. Low-set ears
Which abnormality is a common sex chromosome defect?
a. Down syndrome
b. Turner syndrome
c. Marfan syndrome
d. Hemophilia
b. Turner syndrome
Turner syndrome is suspected in an adolescent girl with short stature. What causes this?
a. Absence of one of the X chromosomes
b. Presence of an incomplete Y chromosome
c. Precocious puberty in an otherwise healthy child
d. Excess production of both androgens and estrogens
a. Absence of one of the X chromosomes
Which is a sex chromosome abnormality that is caused by the presence of one or more additional X chromosomes in a male?
a. Turner
b. Triple X
c. Klinefelter
d. Trisomy 13
c. Klinefelter
Parents ask the nurse about the characteristics of autosomal dominant inheritance. Which statement is characteristic of autosomal dominant inheritance?
a. Females are affected with greater frequency than males.
b. Unaffected children of affected individuals will have affected children.
c. Each child of a heterozygous affected parent has a 50% chance of being affected.
d. Any child of two unaffected heterozygous parents has a 25% chance of being affected
c. Each child of a heterozygous affected parent has a 50% chance of being affected.
Parents ask the nurse about the characteristics of autosomal recessive inheritance. Which is characteristic of autosomal recessive inheritance?
a. Affected individuals have unaffected parents.
b. Affected individuals have one affected parent.
c. Affected parents have a 50% chance of having an affected child.
d. Affected parents will have unaffected children.
a. Affected individuals have unaffected parents.
Which is characteristic of X-linked recessive inheritance?
a. There are no carriers.
b. Affected individuals are principally males.
c. Affected individuals are principally females.
d. Affected individuals will always have affected parents
b. Affected individuals are principally males.
A father with an X-linked recessive disorder asks the nurse what the probability is that his sons will have the disorder. Which response should the nurse make?
a. Male children will be carriers.
b. All male children will be affected.
c. None of the sons will have the disorder.
d. It cannot be determined without more data
c. None of the sons will have the disorder.
When a male has an X-linked recessive disorder, he has one copy of the allele on his X chromosome. The father passes only his Y chromosome (not the X chromosome) to his sons.
Therefore, none of his sons will have the X-linked recessive gene. They will not be carriers or be affected by the disorder.
The inheritance of which is X-linked recessive?
a. Hemophilia A
b. Marfan syndrome
c. Neurofibromatosis
d. Fragile X syndrome
a. Hemophilia A
Chromosome analysis of the fetus is usually accomplished through the testing of which?
a. Fetal serum
b. Maternal urine
c. Amniotic fluid
d. Maternal serum
c. Amniotic fluid
A couple asks the nurse about the optimal time for genetic counseling. They do not plan to have children for several years. When should the nurse recommend they begin genetic counseling?
a. As soon as the woman suspects that she may be pregnant
b. Whenever they are ready to start their family
c. Now, if one of them has a family history of congenital heart disease
d. Now, if they are members of a population at risk for certain diseases
d. Now, if they are members of a population at risk for certain diseases
A woman, age 43 years, is 6 weeks pregnant. It is important that she be informed of which?
a. The need for a therapeutic abortion
b. Increased risk for Down syndrome
c. Increased risk for Turner syndrome
d. The need for an immediate amniocentesis
b. Increased risk for Down syndrome