Disease Associated with Gametogenesis

Question 1

What are the periods of development and what are the associated time frames with those periods?

Answer 1

1. early period. fertilization (0) -2 week
2. embryonic period 3-8 week
3. Fetal 9-38 wk

Question 2

Rank from highest to lowest the susceptibility of the embryo to teratogens.

Answer 2

1. embryonic period
2. Fetal period. sensitivity decreases with time.
3. early period. no established comm with mother

Question 3

What is the best way to describe Class A drugs?

Answer 3

1. no risk to damage fetus in the 1st trimester or later periods

Question 4

What is the best way to describe Class B drugs?

Answer 4

1. failed to demonstrate risk to fetus and no adequate studies to support data

Question 5

What is the best way to describe Class C drugs?

Answer 5

1. Adverse effects seen in animals. Potential benefits may outweigh the risks and be prescribed for use

Question 6

What is the best way to describe Class D drugs?

Answer 6

1. Supporting evidence shows fetus risk to reactions. Potential benefits may outweigh the potential risks

Question 7

What is the best way to describe Class X drugs?

Answer 7

1.Both fetus and human damage. No potential benefits

Question 8

What are the common types of anomalies that can occur with morphogenesis?

Answer 8

1. malformation
2. deformation
3. disruption

Question 9

What is a malformation anomaly?

Answer 9

Anomaly where the intrinsic tissue is flawed itself due to environmental or genetic cause.

Question 10

What is a deformation type anomaly?

Answer 10

1. These are based on extrinsic factors to cause deformity. reduced amniotic fluid, reduces space for fetus.

Question 11

What is a disruption type anomaly?

Answer 11

1. This defect ultimately stops growth for unknown reasons due to some destructive force.

Question 12

What is Klinefelter Syndrome and what is the cause?

Answer 12

1. nondisjunction results in XXY, 47

2. Results with presence of Barr bodies in males, and sterility, testicular atrophy and gynecomastia

Question 13

What is Trisomy 21 (down syndrome)?

Answer 13

1. Extra 21 chromosome copy, due to MATERNAL nondisjunction

2. craniofacial defects with cardiac defects, growth and mental reetardation.

Question 14

What is Trisomy 18 (Edward Syndrome)?

Answer 14

1. Limited capacity for survival.

2. cardiac defect, mental retardation, low set ears with micrognahtia

Question 15

What is Trisomy 13 (Patau Syndrome) ?

Answer 15

1. Holoprosencephaly, cardiac defect, deafness, cleft-lip and palate with eye defect.
2. 7 day survival.

Question 16

What is holoprosencephaly?

Answer 16

Failure of the forebrain to separate/develop into two hemispheres

Question 17

What is Trisomy 8 (Warkany Syndrome) ?

Answer 17

1. long slender trunk with craniofacial abnormality.

2. prominent forehead, strabismus, micrognathia, cleft palate

Question 18

What is Turner Syndrome?

Answer 18

1. monosomy chromosome 45, the only form compatible with life.
2. no secondary sex features develop at puberty.
3. paternal spermatocyte nondisjunction

Question 19

What is characteristic of Triple X syndrome?

Answer 19

1. varying degree of mental retardation.

2. female contain 2 barr bodies in cells

Question 20

What is Cri du Chat Syndrome?

Answer 20

1. short arm deletion on chr. 5.

2. larynx malformation–> cry of cat.

Question 21

Deletion 4q syndrome is what?

Answer 21

1. long arm chr. 4 deletion.

2. mentl retardation, with cleft palate, limb abnormalities, growth retardation.

Question 22

What is the best way to describe the genetics that produce Angelman Syndrome?

Answer 22

1. microdeletion of chr. 15 long arm from Maternal.

2. typical example of genomic imprinting.

Question 23

What is the best way to describe Prader-Willi Syndrome in terms of the genetics?

Answer 23

1. microdeletion on chr. 15 long arm from the Paternal.
2. male form of genomic imprinting.
3. hypogonadism, obesity, hypotonicity.

Question 24

What is the best way to describe genomic imprinting?

Answer 24

1. Inheritance of a mutated allele will actually mask the normal functioning chr.
2. Different syndromes present depending on whether the maternal or paternal chr contains the mutation.