QUESTION & ANSWERS

 Q1: DEFINE BIRTH DEFECT?

Birth defect is the abnormality of the structure and
function present at birth that result in a physical and
mental disabilities.
 Q2: WRITE TYPES OF CHROMOSOMAL
ABNORMALITIES.
Types:
•It has two types.
•Numerical chromosomal anomaly
•Structural chromosomal anomaly
 Q3:WRITE SYMPTOMS OF TURNER
SYNDROME?
Following are symptoms of turner syndrome.
•Webbed neck
•Short height
•Sexual immaturity (have underdeveloped ovaries,
resulting in a lack of monthly periods and infertility)
•Drooped eyelids etc.
 Q4:WHAT IS NUMERICAL CHOROMOSOMAL
ANOMALY?
Numerical chromosomal anomaly:
•It is concerned with irregular number of chromosomes.
•It further includes
•Aneuploidy
•polyploidy
 Q5:WHAT IS ANEUPLOIDY AND
POLYPLOIDY?
 Aneuploidy:
•One or more chromosome is added or missed
•Example: Down syndrome
 Polyploidy:
•More than normal number of chromosomes
•Example : Triploidy (a fetus with 69 chromosomes),
tetraploidy

 Q6: WRITE A SHORT NOTE ON CEREBRAL

INFARCTION.
Occurs as a result of disrupted blood flow to the brain due
to problems with the blood vessels that supply it. A lack of
adequate blood supply to brain cells deprives them of
oxygen and vital nutrients which can cause parts of the
brain to die off.
 Causes
•Disturbed blood supply
•Restricted oxygen supply
•Stress
•overweight
 Q7: WRITE SYMPTOMS OF MUSCULAR
DYSTROPHY?
Symptoms start to show up in the childhood or in the
teen years; children have
•Weak muscle
 •Muscle cramps
•Fall down often
•Have problem in getting up, climbing stair, running and
jumping
•Walk on their toes or waddle
 Q8: WRITE A SHORT NOTE ON ENVIRONMENTAL
FACTOR.
Environmental factor play an important in
developmental defect.
 It includes:
•Infectious Agent: Rubella, Cytomegalovirus
•Radiation: large dose of exposure of x-ray to pregnant
females can lead to microcephaly, spina bifida
•Hormones: cortisone- cleft palate, Insulin,
•Nutritional Deficiency: vitamins deficiency
•Maternal disease: diabetes cause variety of malformation as
heart, neural tube defects
•Hypoxia
•Chemical agents

 Q9: WRITE ANY ONE CAUSE OF CARPENTER

SYNDROME.
Mutated genes cause Carpenter syndrome and
they are passed from parent to child during fetal
 development. These genes cause the coronal (from ear to
ear) and sagittal (top of head, front to back) sutures to
fuse together prematurely (craniosynostosis).

 Q10: WRITE DOWN THE CAUSES OF FETAL

ALCOHOL SYNDROME AND MATERNAL
DIABETES.

 Causes of fatal alcohol syndrome:

•Alcohol enter blood stream reach the fetus by
crossing placenta
•High alcohol concentration cause brain damage.
 Causes of maternal diabetes:
 Excess weight before pregnancy.
 Hormone levels change.