Disease Associated with Gametogenesis Flashcards
What are the periods of development and what are the associated time frames with those periods?
- early period. fertilization (0) -2 week
- embryonic period 3-8 week
- Fetal 9-38 wk
Rank from highest to lowest the susceptibility of the embryo to teratogens.
- embryonic period
- Fetal period. sensitivity decreases with time.
- early period. no established comm with mother
What is the best way to describe Class A drugs?
- no risk to damage fetus in the 1st trimester or later periods
What is the best way to describe Class B drugs?
- failed to demonstrate risk to fetus and no adequate studies to support data
What is the best way to describe Class C drugs?
- Adverse effects seen in animals. Potential benefits may outweigh the risks and be prescribed for use
What is the best way to describe Class D drugs?
- Supporting evidence shows fetus risk to reactions. Potential benefits may outweigh the potential risks
What is the best way to describe Class X drugs?
1.Both fetus and human damage. No potential benefits
What are the common types of anomalies that can occur with morphogenesis?
- malformation
- deformation
- disruption
What is a malformation anomaly?
Anomaly where the intrinsic tissue is flawed itself due to environmental or genetic cause.
What is a deformation type anomaly?
- These are based on extrinsic factors to cause deformity. reduced amniotic fluid, reduces space for fetus.
What is a disruption type anomaly?
- This defect ultimately stops growth for unknown reasons due to some destructive force.
What is Klinefelter Syndrome and what is the cause?
- nondisjunction results in XXY, 47
2. Results with presence of Barr bodies in males, and sterility, testicular atrophy and gynecomastia
What is Trisomy 21 (down syndrome)?
- Extra 21 chromosome copy, due to MATERNAL nondisjunction
2. craniofacial defects with cardiac defects, growth and mental reetardation.
What is Trisomy 18 (Edward Syndrome)?
- Limited capacity for survival.
2. cardiac defect, mental retardation, low set ears with micrognahtia
What is Trisomy 13 (Patau Syndrome) ?
- Holoprosencephaly, cardiac defect, deafness, cleft-lip and palate with eye defect.
- 7 day survival.
What is holoprosencephaly?
Failure of the forebrain to separate/develop into two hemispheres
What is Trisomy 8 (Warkany Syndrome) ?
- long slender trunk with craniofacial abnormality.
2. prominent forehead, strabismus, micrognathia, cleft palate
What is Turner Syndrome?
- monosomy chromosome 45, the only form compatible with life.
- no secondary sex features develop at puberty.
- paternal spermatocyte nondisjunction
What is characteristic of Triple X syndrome?
- varying degree of mental retardation.
2. female contain 2 barr bodies in cells
What is Cri du Chat Syndrome?
- short arm deletion on chr. 5.
2. larynx malformation–> cry of cat.
Deletion 4q syndrome is what?
- long arm chr. 4 deletion.
2. mentl retardation, with cleft palate, limb abnormalities, growth retardation.
What is the best way to describe the genetics that produce Angelman Syndrome?
- microdeletion of chr. 15 long arm from Maternal.
2. typical example of genomic imprinting.
What is the best way to describe Prader-Willi Syndrome in terms of the genetics?
- microdeletion on chr. 15 long arm from the Paternal.
- male form of genomic imprinting.
- hypogonadism, obesity, hypotonicity.
What is the best way to describe genomic imprinting?
- Inheritance of a mutated allele will actually mask the normal functioning chr.
- Different syndromes present depending on whether the maternal or paternal chr contains the mutation.
