Path Lec. 7

Question 1

What are physical teratogens?

Answer 1

Exposure of mother to radioactive substances during pregnancy
- X-rays
- Alpha, Beta, Gamma Rays
- Malformations/birth defects

Question 2

What are chemical teratogens and give an example?

Answer 2

Industrial agents ingested as drugs or alcohlol

FASD is a significant outcome of chemical teratogen exposure during pregnancy.

Question 3

What are microbial teratogens

Answer 3

Direct or Indirect fetal infection
INDIRECT
* affects the mother and so affects the fetus
* fetal weight reduction, growth retardation, premature birth
DIRECT
* more serious
* microbes transverse the placental barrier

Question 4

List the TORCH infections that are considered microbial teratogens.

Answer 4

• Toxoplasma
• Others - Varicella,EBV
• Rubella
• Cytomegalovirus
• Herpes Virus

These infections can cause severe developmental issues and high mortality rates.

Question 5

What are the effects of rubella as a microbial teratogen?

Answer 5

Congenital heart defects, deafness, microcephaly, eye anomalies

Effects fetus if mother is infected in first trimester

Question 6

What are the consequences of cytomegalovirus infection during pregnancy?

Answer 6

Jaundice, Thrombocytopenia, reduced IQ, motor disabilities, purpura, hepatosplenomegaly

Mild sore throat in normal people. Most common congenital infection

Question 7

What is the effect of herpes simplex virus on newborns?

Answer 7

Microcephaly, hydrocephaly, organ involvement, transmitted at birth

Herpes simplex virus can have devastating effects if transmitted during delivery.

Question 8

What are the risks associated with prematurity?

Answer 8

Risk of neonatal respiratory distress syndrome

Premature infants often face multiple health challenges, including respiratory issues.

Question 9

What is Sudden Infant Death Syndrome (SIDS)?

Answer 9

Multifactorial risk, unknown cause

SIDS remains a leading cause of infant mortality, with various contributing factors.

Question 10

What is Down’s Syndrome also known as?

Answer 10

Trisomy 21

Down’s Syndrome is characterized by an extra chromosome 21.

Question 11

What are the clinical features of Down’s Syndrome?

Answer 11

• Reduced IQ
• Developmental delay
• Characteristic facial features (slanted eyes, flat nasal bridge)
• Congenital heart disease
• Intestinal defects
• ↑ risk of infections and leukemia

Individuals with Down’s Syndrome often have distinct physical and health characteristics.

Question 12

What is Turner’s Syndrome?

Answer 12

45,X0: Phenotypically female, no puberty, no secondary sexual characteristics, infertile

Turner’s Syndrome is a chromosomal disorder that affects females.

Question 13

Describe Klinefelter’s Syndrome.

Answer 13

47,XXY: Phenotypically male, atrophic testes, infertility, gynecomastia, tall stature, lack of male secondary sexual characteristics

Klinefelter’s Syndrome is a condition that affects male physical development.

Question 14

What characterizes Metafemale syndrome?

Answer 14

47,XXX: Female, underdeveloped genital organs, reduced fertility, ↑ risk of learning disabilities

Metafemale syndrome is caused by an extra X chromosome and can lead to developmental issues.

Question 15

What is the characteristic of Supermale syndrome?

Answer 15

47,XYY: Male, tall, normal intelligence

Supermale syndrome typically does not cause significant health issues.

Question 16

Define Autosomal Dominant inheritance.

Answer 16

One mutant allele sufficient. 50% chance transmission if one parent affected. Affects both sexes equally

Examples include Marfan’s syndrome and Huntington’s disease.

Question 17

Define Autosomal Recessive inheritance.

Answer 17

Trait expressed only in homozygotes. 25% risk if both parents carriers

Examples include cystic fibrosis and sickle cell anemia.

Question 18

What is X-linked Recessive inheritance?

Answer 18

Primarily affects males; female carriers transmit to 50% of sons

Disorders include Hemophilia A/B and Duchenne muscular dystrophy.

Question 19

What is X-linked Dominant inheritance?

Answer 19

One abnormal X allele causes disease in both sexes

An example is Incontinentia pigmenti.

Question 20

What are Neural Tube Defects?

Answer 20

Anencephaly (lethal), spina bifida (variable severity)

These defects are associated with multifactorial inheritance and can be influenced by environmental factors.

Question 21

What are some Autosomal Dominant disorders

Answer 21

Marfans Syndrom
Familial Hypercholerolemia
Huntingtons Disease
Achondroplasia
Polydactyly

Question 22

What are some Autosomal Recessive Disorders

Answer 22

Cystic Fibrosis
Phenylketonuria
3 X-linked Recessive Disorder

Question 23

What are the 3 X-linked Recessive Disorders

Answer 23

Hemophilia
Hemophilia A - deficiency in factor 8
Hemophilia B - deficiency n factor 4

Question 24

Congenital Neural Tube Defects

Answer 24

No brain development = not able to live
Folic acid deficiency