CA Flashcards
What are congenital anomalies?
Congenital anomalies are structural or functional abnormalities that occur during intrauterine life.
True or False: Congenital anomalies can be caused by genetic factors, environmental factors, or a combination of both.
True
Fill in the blank: Mutations are changes in the _____ of an organism’s DNA.
genetic sequence
What is the primary difference between a congenital anomaly and a mutation?
A congenital anomaly is a structural or functional abnormality present at birth, while a mutation is a change in the DNA sequence that can occur at any time.
Which of the following is NOT a type of congenital anomaly? A) Heart defect B) Cleft lip C) Cold allergy
C) Cold allergy
True or False: All congenital anomalies are inherited.
False
What is the term for congenital anomalies that manifest as an absence of a body part?
Agenesis
Multiple choice: Which of the following is a common environmental factor that can lead to congenital anomalies? A) Smoking B) Genetic predisposition C) Age
A) Smoking
What is the role of teratogens in congenital anomalies?
Teratogens are substances that can cause developmental malformations in a fetus.
Fill in the blank: The study of congenital anomalies is known as _____ pathology.
teratology
True or False: Mutations can be beneficial, harmful, or neutral.
True
What is the term for mutations that occur in germ cells and can be passed to offspring?
Germline mutations
Multiple choice: Which of the following is an example of a chromosomal mutation? A) Point mutation B) Deletion C) Inversion
C) Inversion
What is the most common type of congenital heart defect?
Ventricular septal defect (VSD)
Fill in the blank: Congenital anomalies can be detected through _____ imaging techniques.
ultrasound
True or False: All congenital anomalies require surgical intervention.
False
What is the genetic condition characterized by the presence of an extra chromosome 21?
Down syndrome
Multiple choice: Which of the following is a non-genetic cause of congenital anomalies? A) Cystic fibrosis B) Alcohol consumption during pregnancy C) Sickle cell disease
B) Alcohol consumption during pregnancy
What is the significance of prenatal screening in relation to congenital anomalies?
Prenatal screening helps identify potential congenital anomalies early, allowing for informed decisions and interventions.
Fill in the blank: The presence of two different alleles for a particular gene is called _____ for that gene.
heterozygosity
True or False: Congenital anomalies can only be detected after birth.
False
What is the term for the process by which a single mutation can lead to multiple phenotypic effects?
Pleiotropy
Multiple choice: Which of the following is a known risk factor for congenital anomalies? A) High-fiber diet B) Maternal diabetes C) Regular exercise
B) Maternal diabetes
What is the role of genetic counseling in the context of congenital anomalies?
Genetic counseling provides information and support to families affected by congenital anomalies, helping them understand risks and options.
Fill in the blank: The term for a mutation that does not affect the amino acid sequence of a protein is _____ mutation.
silent
True or False: Congenital anomalies can have a significant impact on quality of life.
True
