bio unit 2 sdnewjndf

non-disjunction

• usually confirmed through a karyotype (prenatal testing)

• errors in meiosis → abnormal # of chromosomes → genetic disorders

down-syndrome / trisomy 21

• physical + mental challenges

• round/full face, shorter, large forehead

• possibility of baby having down syndrome increases at older ages

  • the older cells get, they sit here and do nothing, aging the ova

turner syndrome

• 1 x, no y (monosomy)

• sterile; cannot have children

• usually miscarried

klinefelter syndrome

• xxy

• guy w/ feminine characteristics

patau syndrome

• trisomy 13

• brain, kidney, heart defects

• child usually dies in a few months

edwards syndrome

• trisomy 18

• organ system defects

• low survival rate

  • most babies miscarried

• life expectancy less than a month

prenatal testing

remove cells from outer membrane (chrion) also called chrionic villus sampling (CVS) is one way to obtain cells for a karyotype graph

problems w/ fertilization

• poor/reduced egg/sperm quality production

• blocked fallopian tubes

• multiple marker screening

assistive reproductive technology (ARTs)

may be used to enhance an infertile couples’ chance at a baby. use of reproductive technology is controversial.

• IVF

• ICSI

• LAH

mutation

a genetic code change in an allele; can be negative, positive, or have no affect

carrier testing

genetic test that determines whether an individual is heterozygous for a given gene that results in genetic disorder

genetic screening

test used to identify the presence of a defective allele that leads to a genetic disorder

cystic fibrosis

inherited disease where thick mucus clogs the lungs and blocks the release of enzymes from the pancreas. received through recessive mutated gene

huntington’s disease, hypercholesterolemia, neurofibromatosis

dominant alleles