Chapter 7 Quiz - Congenital Disorders Flashcards
A Barr body is a chromosomal disorder where chromosome fragments are translocated to other chromosomes.
True or false?
If false, what is a Barr body.
False
A Barr body is the inactivated X chromosome in each female cell.
Patients with Marfan syndrome need to be monitored for defects in heart valves and blood vessel aneurysms.
True or false?
True
Most sex-linked disorders are recessive, making females less likely to have these disorders.
True or false?
If false, then what type of disorder.
True
Cleft palate is an example of a single-gene disorder.
True or false?
If false then what is Cleft palate.
False
Cleft palate is an example of a multifactorial gene disorder
Having a baby with Down syndrome is more likely in a very young mother than in a mother in her 30s.
True or false?
If false then what is the likelihood.
False
Having a baby with Down syndrome is less likely in a very young mother than in a mother in her 30s. NOTE: Affects 1/100 births to mothers 40 or older.
Turner syndrome is the #1 cause of infertility in males.
True or false?
If false then what is the #1 cause.
False
Klinefelter syndrome (47, XXY or 48, XXXY) is the #1 cause of infertility in males.
Cystic fibrosis is an example of an autosomal recessive disorder.
True or false?
If false then what is it an example of.
True
Patients with Klinefelter syndrome have a higher risk for mitral valve prolapse, diabetes, and metabolic syndrome.
True or false?
If false then what syndrome.
True
Dietary products containing “Equal” (aspartame) would have to be restricted in people with the genetic disorder ____?_______.
Dietary _____?______ also has to be carefully restricted.
Dietary products containing “Equal” (aspartame) would have to be restricted in people with the genetic disorder _phenylketonuria__.
Dietary __protein_ also has to be carefully restricted.
A deficiency in ___?___ can cause spina bifida.
A deficiency in___folic acid___ can cause spina bifida.
Which of the following are potential TORCH teratogens? Note: there may be more than one correct answer
- Rubella (German measles)
- Herpes simplex
- Thalidomide
- Cytomegalovirus
Which of the following are potential TORCH teratogens?
- Rubella (German measles)
- Herpes simplex
- Cytomegalovirus
Which of the following is NOT true about Fetal Alcohol Syndrome?
- Alcohol ingestion is only a risk in the embryogenesis period (weeks 2 - 8/9)
- Symptoms may include skull and brain malformation (e.g., microcephaly), developmental delays, behavioral dysfunction, & intellectual impairment
- Early signs MAY include abnormal facial features (flat nasal bridge, small palpebral fissures, short nose, thin upper lip, small chin, epicanthal folds, smooth philtrum)
- All of these are true about FAS
Which of the following is NOT true about Fetal Alcohol Syndrome?
- Alcohol ingestion is only a risk in the embryogenesis period (weeks 2 - 8/9)
An individual with flat facial features; slight slant to the eyes with epicanthal folds; small stature, small hands with Simian crease; wide space between 1st and 2nd digits of foot; large, protruding and sometimes wrinkled tongue; low-lying, malformed ears is likely to be diagnosed as having:
___?___
An individual with flat facial features; slight slant to the eyes with epicanthal folds; small stature, small hands with Simian crease; wide space between 1st and 2nd digits of foot; large, protruding and sometimes wrinkled tongue; low-lying, malformed ears is likely to be diagnosed as having:
Down syndrome
Which of the following is not a typical consequence of having Down Syndrome?
- increased risk for leukemia and Alzheimer’s dz
- cardiovascular defects (atrial/ventricular septal defects)
- mild to severe mental retardation
- thick respiratory mucous; gastro-intestinal issues
Which of the following is not a typical consequence of having Down Syndrome?
- thick respiratory mucous; gastro-intestinal issues
Babies with a birth weight > 10.5 lb (macrosomia) should be monitored for hypoglycemia and seizures.
True or false?
If false at which weight.
True
