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91 Cards in this Set

  • Front
  • Back

How many pairs of chromosomes?

23

Chromosome

Threadlike structures in the nuclei of cells that contain genetic material

Autosomes

First 22 pairs of chromosomes (matching)

Sex chromosomes

23rd pair of chromosomes; these determine the sex of the child

Deoyribonucleic acid

DNA


Molecule compound of four nucleotide bases that is the biochemical basis of heredity

Nucleic bases in DNA

Adenine, thymine


guanine, cytosine

Gene

group of nucleotide bases that provide a specific set of biochemical instructions

Genotype

person's hereditary makeup

Phenotype

physical, behavioural, and psychological features that result from the interaction between one's genes and the environment

Alleles

variations of genes

Homozygous

When the alleles in a pair of chromosomes are the same

Heterozygous

When the alleles in a pair of chromosomes differ from each other

Dominant gene

form of an allele whose chemical instructions are followed



Recessive gene

Allele whose instructions are ignored when it is combined with a dominant allele

Look at slide RE: example of dominant and recessive alleles: sickle-cell

do it

incomplete dominance

situation in which one allele does not dominate another completely

Sicke-cell trait

disorder inw which individuals show signs of mild anemia when they are deprived of oxygen; occurs in individuals who have one dominant allele for normal blood cells and one recessive sickle-cell allele

Phenylketonuria (PKU)

Inherited disorder inw which the infant lacks a liver enzyme




Affects ability to break down the protein phenylalanine; which is neurotoxic if it accumulates




This is a recessive trait

Huntington's disease

Progressive and fatal type of dementia




This is a dominant trait

Most common chromosomal disorder is

Trisomy 21 AKA Down syndrome

Klinefelter's Syndrome

XXY


Male, tall, small testicles, sterile, below-normal intelligence, passive




XXY complement (XYY)


male, tall, some cases show below normal intelligence

Turner's syndrome

X


female, short, limited development of secondary sex characteristics, problems perceiving spatial relations




XXX syndrome


female, normal structure, delayed motor and language development

Prader-Willi syndrome (PWS)

rare genetic disorder in which seven genes on chromosome 15 are deleted or not expressed




low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours and a chronic feeling of hunger

PWS con't

For the genes affected in PWS, it is the maternalcopy that is usually imprinted or silenced, while themutated paternal copy is not func5onal. In otherwords, most people have a single working copy ofthese genes, people with PWS have a non-workingcopy and a silenced copy.


PWS has the sister syndrome Angelman syndrome, inwhich maternal derived gene5c material is affectedin the same genetic region.

Neuro-cognitive

At risk for learning and aden5on difficulties


5%: IQ above 85 (average to low average)


27%: IQ 70-85 (borderline)


39%: IQ 50-70 (mild intellectual disability)


27%: IQ 35-50 (moderate intellectual disability)


1%: IQ 20-35 (severe intellectual disability)


<1%: IQ<20 (profound intellectual disability)

Behavioural genetics

the branch of genetics that studies the inheritance of behavioural and psychological traits

Polygenic inheritance

when phenotypes are the result of the combined activity of many separate genes

Monozygotic twins

identical twins; result from a single fertilized egg that splits into two



Dizygotic twins

Fraternal twins; result from the fertilization of two separate eggs by two sperm

Reaction range

a genotype is manifested in reaction to the environment where development takes place, so a single genotype can lead to a range of phenotypes

Niche-picking

process of deliberately seeking environments that are compatible with one's genetic makeup

Non shared environmental influences

forces within a family that make siblings different from one another

prenatal development

the many changes that turn a fertilized egg into a newborn human

how long is prenatal development

about 38 weeks




zygote - (weeks 1-2)


embryo - (weeks 3-8)


fetus - (weeks 9-38)



Zygote




week 1


week 2

During the first week after fertilization, travels down the fallopian tube toward the uterus




The second week involves IMPLANTATION, the step in which the zygote burrows into the uterine wall and establishes connections within a woman's blood vessels

Germ disc

Small cluster of cells near the centre of the zygote that will eventually develop into a baby

Placent

Structure through which nutrients and wastes are exchanged between the mother and the developing child

Embryo - three layers

Ectoderm - outer later that will become hair, epidermis, nervous system




Mesoderm - middle layer that becomes the muscles, bones and circulatory system




Endoderm - inner layer which will become the lungs and the digestive system

Amnion

Inner sac in which the developing child rests

Amniotic fluid

Fluid that surrounds the embryo or fetus

Umbilical cord

structure containing veins and arteries that connects the developing child to the placenta

Embryonic growth periods:

Cephalocaudal principle - sequence of growth occurs from the head down




Proximodistal principle - sequence of growth progress from inner to outer parts of the body

Period of the fetus

Longest period


Great increase in size and weight during this period

Development of the cerebral cortex occurs when

during weeks 9-38

Major development during period of the fetus at three months

the tests in a male fetus secrete a hormone that causes development of a penis and scrotum




Females lack this hormone; thus develop a vagina and a labia

Major development during period of the fetus at five and six months

Eyebrows, eyelashes and scalp hair emerge

Lanugo

Fine, silky hair that covers most of the surface of a fetus and is mostly shed prior to birth

Vernix

Substance that protects the fetus's skin during development

Age of viability

Age at which a fetus can survive beanies most of its bodily system function adequately; typically 7 months after conception

Issues that a preterm baby may face

trouble breathing due to immature lungs


difficulty with thermoregulation because insulation layer of fat hasn't appeared

During weeks 9-38 the fetus is

more active and develops regular cycles of activity and inactivity




A more active fetus is somewhat more likely to be a difficult baby

Sense begin to function during this period

weeks 9-38


period of the fetus

Three general risk factors have been identified in regards to pregnancy

nutrition


stress


mother's age



nutrition during pregnany

food intake should be adequate to maintain a healthy weight; usually with a 25-35 pound weight gain (if start weight was healthy)

Spina bifida

Disorder in which the embryo's neural tube does not close properly




Can result from a diet lacking folate

Foods to avoid during pregnancy

raw fish


undercooked meat


raw or lightly cooked eggs


unpasteurized milk or juice


raw sprouts

stress during pregnancy

the body secretes hormones that reduce the flow of oxygen to the fetus and increase her own heart rate and activity level

stress during pregnancy con't

immune system is weakened, making her more susceptible to illness; which can be damaging to fetal development

stress during pregnancy

She is more likely to smoke or drink alcohol, and less likely to rest, exercise and eat well

Young moms are at a higher risk for

poor nutrition/poor prenatal care


incomplete maternal education


poverty


marital/relationship difficulties

Teratogen

Agent that causes abnormal prenatal development




drugs


diseases


environmental hazards

Aspirin use during pregnancy is linked with




especially heavy use

difficulties in intelligence, attention and motor skills

caffeine consumption during pregnancy is linked with




especially heavy use

lower birth weight, decreased muscle tone

Cocaine and herion during pregnancy can

delay growth, and cause irritability in newborns

marijuana use during pregnancy results in

lower birth weight, less motor control

nicotine use during pregnancy results in

lower birth weight, possible cognitive impairments

FAS

disorder affecting babies whose mothers consumed large amounts of alcohol while pregnant




results in problems with growth and cognition / facial abnormalities

FASD

fetal alcohol spectrum disorder

Diseases mom has that can affect baby

AIDS


chlamydia (preterm birth, LBW, eye inflammation)


Chicken pox (spontaneous abortion, developmental and intellectual delays)


Cytomegalovirus (deafness, blindness, small head, intellectual delay)



Diseases mom has that can affect baby - Con't

Genital herpes (encephalitis, enlarged spleen, improper blood clotting)


Rubella (intellectual delay, damage to eyes, ears, heart)


Syphilis - Damage to the CNS, teeth, bones


Toxoplasmosis (damage to the eye, brain, learning disabilities)

Environmental hazards to fetus

lead (intellectual impairment)


Mercury (plysical and intellectual development delay, cerebral palsy)

review how teratogens influence prenatal development - chart

do it

ultrasound

prenatal diagnostic technique that bounces sound waves off the fetus to generate an image of the fetus

how soon can you have an ultrasound

4 or 5 weeks



when can a baby's sex be determined

by weeks 16-20

amniocentesis

prenatal diagnostic technique that involves withdrawing a sample of amniotic fluid through the abdomen using a syringe



results in 2 weeks


1% risk of miscarriage



chorionic cillus sampling (CVS)

prenatal diagnostic technique that involves taking a sample of tissue from the chorion



9-12wk after conception


results in 7-10 days


2% chance of miscarriage


fetal medicine

field of medicine concerned with treating prenatal problems before birth

stages of labour - stage 1

usually lasts 12-24 hours for first birth, uterus begins progressively stronger contractions, service dilates to about 10c

stages of labour - stage 2

lasts about an hour; baby passes through the cervix and vagina, with help from mom contracting muscles in her abdomen

crowning

appearance of the top of the baby's head during labour

stages of labour - stage 3

lasts a few minutes; mom pushes a few more times to expel the placenta, or afterbirth.

postpartum depression occurs in ___% of new mothers

10-15%

symptoms of postpartum depression

irritability


feelings of low self worth


disturbed sleep


poor appetite


apathy

hypoxia

a birth complication in which umbilical blood flow is disrupted and the infant does not receive adequate oxygen




can lead to intellectual impairment/death

caesarean section

surgical removal of infant from the uterus through an incision made in the mothers abdomen




sometimes necessary if fetus is in distress, is in an irregular position or has a head too large for vaginal delivery

preterm babies

babies born before the 36th week after conception




often lag behind full term infants in development in the first year of life




can usually catch up by year three

low birth weight

weight of less than 5 pounds in a newborn

very low birth weight

weight of less than 3 pounds in a newborn

extremely low birthweight

newborns who weigh less than 2 pounds

infant mortality

the number of infants out of 1,000 births who die before their first birthday




Canada's - 5 for every 1,000 births