Genetic/congenital Disorders

Front 1

genetic disorders involve:

Back 1

Genetic disorders can involve a single-gene trait, multifactorial inheritance, or a chromosomal abnormality

Front 2

how do chromosomal disorders arise?

Back 2

Chromosomal disorders occur during meiosis and result from defective movement of entire chromosomes, or breakage and translocation of genetic material.

Front 3

AUTOSOMAL DOMINANT DISORDERS

Back 3

A single mutant allele transferred from an affected parent. regardless of sex.
the parent has a 50% chance of transmitting the disease
examples: short limb dwarfism, polycystic kidney disease, huntington chorea, marfan syndrome, von willebrand disease, osteogenisis imperfecta

Front 4

AUTOSOMAL RECESSIVE DISORDERS

Back 4

only occur when both members of a gene pair are affected
theres a 25% chance of having an affected child, 25% chance of having a non affected child, and 100% of children will be carriers
examples: cystic fibrosis, glycogen storage disease, sickle cell, tay sachs

Front 5

X LINKED RECESSIVE DISEASES

Back 5

affect X chromosomes
a mother transfers the disorder to her sons (50% chance) and 50% of the daughters may be carriers
when the affected son procreates, hell transfer the defect gene to all daughters as carriers, Y gene is not affected so it will not be transferred to sons as carriers.
examples: hemophilia A, duchenne muscular dystrophy, fragile X syndrome

Front 6

what does mitochondrial dna do

Back 6

codes for proteins needed for aerobic metabolism

mitchondria all come from the mother

Front 7

what are the different types of chromosomal breaks

Back 7

DELETION
INVERSION
ISOCHROMOSOME FORMATION (chromosome replicated horizontally instead of vertically)
RING FORMATION
TRANSLOCATION

Front 8

what are the alterations in chromosome duplication

Back 8

mosaicism
aneuploidy- monosomy (1 member of pair) polysomy (>2) or trisomy (ex down syndrome is trisomy 21)
absense of X chromosome (part or all) (ex, turner syndrome)
extra X chromosome(s) (ex Klinefelters syndrome)

Front 9

what are the environmental causes of congenital disorders

Back 9

teratogenic: during embryonic development:
1. radiation (causes microcephaly, mental retardation)
2. chemicals/drugs (alcohol, thalidomide)
3. infectous agents (herpes simplex, chicken pox, measles)

Front 10

what are the periods of vulnerability for embryonic development and exposure to drugs and alcohol

Back 10

CNS- weeks 2-5
heart- weeks 2-6
extremities- weeks 3-7
eyes- weeks 3-7
external genitalia- weeks 6-8

Front 11

what serum marker is used to detect downs syndrome during maternity

Back 11

estriol