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zygote
Involves the uniting of a sperm and ovum to form
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translocation
fragments exchange places with sequences on nonhomologous chromosomes
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mosaicism
- when nondisjunction, duplication, deletion, or translocation occur in the first or second cell division after fertilization
- results in an individual with cells of differing chromosomal makeup
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nonpenetrance
when an abnormal gene fails to result in an abnormal trait
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variable expression
abnormal trait expressed differently in individuals with an identical genotype for the alleles responsible for the trait
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paternal imprinting
silences certain genes that are derived from the father so that only the maternal allele is expressed
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epigenetic phenomena
modification of the DNA by methylation or addition of protein groups to certain portions of the gene
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Embryonic development
occurs in the first 8 weeks after fertilization
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fetal period
spans the time from the 8th week after fertilization to birth
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congenital
present at birth, but not necessarily genetic in orign
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gestational age
- time since the mother's last period
- makes the embryo 2 weeks early that it is and the pregnancy lasts 40 weeks
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perinatal period
period from two weeks before birth to four weeks after birth
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neonatal period
time of birth to four weeks after birth
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Infancy
one month to one year of age
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developmental abnormality
refers to disease that affect normal maturation
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monogenetic
- encompass the classic genetic disease in which a single abnormal gene is responsible
- can be traced through the family tree
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polygenetic
- complex gene defects involve more than one abnormal gene
- sometimes environmental factors in their expression
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chromosomal disease
defined by microscopically visible structural changes in chromosomes
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familial disease
diseases in which several family members have the same genetically or chromosomally based disease
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Inprinted
modified by alteration of molecules other than nucleic acids that get attached to the gene
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Teratogens
Toxoplasma, Other, Rubella, Cytomegaloviris, Herpes simplex virus
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chorioamnionitis
placental membrane becomes infected, usually by bacteria
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prematurity age range
births that occur 3 weeks or more prior to term
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Five major causes of death in infants born in the US
- congenital and chromosomal abnormalities
- prematurity and low birth weight
- SIDS
- complications of maternal disease
- diseases of the placenta, cord, and membranes
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