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28 Cards in this Set

  • Front
  • Back


*Ovum and sperm (sex cells)



*Most lives in nucleus

*All cells carry the info f/ the gametes

*DNA has to be duplicated and split b4 mitosis

*Looks like a twisted ladder


*Lives in cytoplasm

*Carries the needed amino acids to build proteins

*Carries the directions on assembly

*Provides the machinery and location for the work to be done


*The same in every cell (23,000)

*Not all are active or expressed in all cells

*Mutations occur during duplication

*The effect of the mutation depends on when the mutation occurs


*Store the genetic info created by DNA and RNA

*Arranged in pairs ( one f/ mom and dad in every cell)

*Have specific structure

* 1 pair sex chromosome

+22 pairs are autosomal


23 Pairs

Male vs Female chromosome 23

Males carry XY

Females carry XX

Genetic vs Congenital

*Congenital: present at birth

*Genetic: genetic mutation

X-linked Disorders

*carried on the X chromosome

*usually doesn't show up in girls b/c she has an extra good X to balance

*Fathers pass the defective gene to all of their daughters and none of their sons

*Mothers have a 1 in 2 chance of producing affect male offspring and a 1 in 2 chance of producing a carrier female


How strong is the trait or gene

Autosomal Dominant Disorders

1) Marfan Syndrome Disease

2) Neurofibromatosis

Marfan Syndrome Disease

*Autosomal Dominant

*disease of the skeleton, eyes, and cardiovascular system

*Skeleton: exaggerated length and thin extremities; chest-Pectus excavatum

*Eyes: bilateral dislocation of the lens; myopia (nearsightedness); tendency to retinal detachment

*Cardiac: vascular abnormalities; rupture of the aorta

Ex: Michael Phelps- Olympic swimmer


*Autosomal Dominant

*Tumors (not cancerous) on nerve tissue

*Dark pigmented lesion of skin and eyes

*Tumors on acoustic (ear) nerve

*Growth and symptoms are made worse by pregnancy and oral contraceptives

Autosomal Recessive Disorders

1) Phenylketonuria (PKU)

2) Tay-Sachs

Phenylketonuria (PKU)

*Autosomal Recessive

*patients are missing one enzyme that degrades phenylalanine to a non toxic form

*causes mental retardation, microcephaly, delayed speech

*all babies have a blood heel stick test before hospital discharge to check for the enzyme

*if lacking the enzyme, need dietary modifications ( phenylalanine-free diet)

Tay-Sachs Disease

*Autosomal Recessive

*enzyme to metabolize fat is missing, so brain turns into fat

*accumulation of lipids in neurological tissue

*displacement of neurological tissue

*appear normal first few months of life

*neurological deficits appear-blind, deaf, paralysis, dysphagia (difficulty swallowing)

*death near age 4

*High risk in Jewish population

X-linked Disorders:

1) Fragile X Syndrome

Chromosomal Disorder

*Result during meiosis (bc of sex chromosome and sex gametes do meiosis)

*Chromosome does not split correctly

*Most frequently-abnormal numbers of chromosomes

Fragile X Syndrome

*part of the X is fragile

*mental retardation-slight or gross

*long face w/ large mandible

*macroorchidism (large testicles)

*everted ears

*mitral valve prolapse

*hyper extensible joints

*most common in males

Multifactorial Inheritance

No direct linkage

Ex: coronary artery disease, diabetes, hypertension, cancer, cleft lip/cleft palate, schizophrenia

Trisomy 21 also known as:

Down's Syndrome

The most common chromosomal disorder

*risk increases as maternal age increases


*square head

*upward slant of the eyes

*malformed, low set ears

*fat pad @ back of neck

*open mouth

*protruding tongue

Turner Syndrome also known as


*short statue

*webbed neck

*puffy hands and feet at birth

*coarctation of the aorta

*no puberty, no ovaries, sterile

*common in females

*abnormal kidney, heart

Klinefelters Syndrome also known as:

Polysomy X

*extra X chromosome

*males develop some female secondary sex characteristics


*lack of facial and chest hair

*statue (short torso, long extremeties)

*high pitched voice

Environmentally Influenced Disorders

Exposure during the first 60 days post conception have the most pronounced effect

Ultrasonography also known as:


*visual exam of structure and funtion

*looking for structural abnormalities w/ sound waves

Alpha fetoprotein

*test for spinobifida (spinal column doesn't close)

*open neural tube or open ventral wall

*severely crippled


look for chromosomal defects

Chorionic Villus Sampling

genetic defects

*similar to amniocentesis

*draw fluid f/ umbilical cord


*umbilical blood sampling