congential and genetic disorders

Question 1

genotype

Answer 1

specific combination of genetic material

Question 2

phenotype

Answer 2

how the gene is expressed, genes can be dominant or recessive

Question 3

mutation

Answer 3

a change in genetic material that will be inherited

Question 4

congenital defects

Answer 4

disorder you are born with

Question 5

teratongen

Answer 5

outside factor that that’s a congenital defect

Question 6

congenital defects

Answer 6

• present @ birth
• defect can be on a single gene, entire chrim or development (due to lack of O2 at birth or other teratogenic agent)
• may be multifactorial

Question 7

chromosomal disorder

Answer 7

translation of a chrom
extra chrom
ex. trisomy 21 - downs syndrome
occurs during miosis - in that during the separation, the chroms done line up

Question 8

autosomal recessive (single gene disorder)

Answer 8

• both parets must pass on the defected gene
• disease trait is on the recessive autosomes
• ex. sickle cell anemia

Question 9

autosomal dominant (single gene disorder)

Answer 9

• disease trait on the dominant gene, and only 1 trait required.
• ex. huntingtons

Question 10

x linked

Answer 10

• on the x chrom
• far more common in men
• ex. hemophilia

Question 11

multifactoral

Answer 11

• genetic predisposition combined with a environmental factor
• ex. cleft palate, congenital heart defect, type 2 diabetes

Question 12

developmental disorders

Answer 12

• exposed to a negative environment during pregnancy or even before
• ex. radiation, where it can effect the sperm or the egg
• things that happen during gestation, or at birth
• infectious diseases that cause developmental disorders include:
  T- OXOPLASMOSIS - CAT LITTER
  O - OTHER (hep B, mumps, varicella, gonniana, syphilis)
  R- UBULLA
  C -mv - CYTOMEGULA VIRUS
  H-ERPES (can cause blindness)