Chapter 3
Chapter 3
I. Fertilization
• Development starts at conception.
• Fertilization, also called conception, is when the sperm and ovum (egg) unite. This
creates a zygote, which is a one-celled organism.
• Dizygotic Twins are fraternal twins. They are more common. They happen when
two separate eggs are fertilized by two different sperms, forming two unique
individuals who have different DNA. They can be the same sex or different sexes. This
type of twinning tends to run in families. It seems to be passed down from a woman's
mother and results from multiple eggs being released at one time. As they get older,
their differences may become more noticeable.
• Monozygotic Twins are identical twins. They result from the splitting of one
fertilized egg. They are genetically identical. Even so, they can still differ on the outside
because of how genes and environmental influences interact.
• Twin to Twin Transfusion Syndrome is a condition that only affects monozygotic
twins. In this syndrome, the blood vessels of the placenta form abnormally, and the
placenta is shared unequally between the twins. If the twins survive, one will usually
be much larger than the other at birth.
• Factors that influence the chance of multiple births include: the trend of having children
later in life, the increased use of fertility drugs, and the increased use of assisted
reproductive techniques like IVF.
• Multiple births are linked with pregnancy complications, premature delivery, low birth
weight infants, and the possibility of disability or death of the infant.
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• Mutations are permanent changes in genetic material. They happen when a mistake
is made while copying the chromosome. Mutations can be good, bad, or have no
effect.
• What Determines Sex?
o It's the father's sperm that genetically decides a child's sex because it carries
either an X or a Y chromosome.
o Autosomes are the 22 pairs of chromosomes that are not related to sexual
expression.
o Sex Chromosomes are the 23rd pair (XX for females or XY for males) that
control the baby's sex.
o Every ovum (egg) has an X chromosome. A sperm can have an X or a Y
chromosome. The Y chromosome contains the SRY gene, which is the gene
for maleness.
o Sexual differentiation is a complex process, more than just gene determination.
Early in development, the embryo's basic reproductive system looks almost the
same in males and females. It's not an automatic process. In mice, research
shows that after hormones signal the SRY gene on the Y chromosome to turn
on, cell differentiation and the formation of testes are triggered. About 6 to 8
weeks after conception, the testes begin to produce the male hormone
testosterone. If a genetically male embryo is exposed to steady, high levels of
testosterone, it usually results in the development of a male body with male
sexual organs. Without this hormone, a genetically male mouse will develop
genitals that look female. A similar process likely happens in human males. The
development of the female reproductive system is also complex and relies on
several genetic variants. These variants encourage ovarian development and
stop testicular development. This includes HOX genes and a signaling
molecule called Wnt-4. So, sexual differentiation isn't just about receiving
certain sex chromosomes.
o In an XX chromosome pair, harmful changes in a gene on one X might be
balanced out by a backup copy on the other X chromosome. This can help
explain gender differences in normal traits, disorders linked to the X
chromosome, and health differences between men and women.
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• Dominant Inheritance means that when a child gets different alleles for a trait, only
the dominant one shows up. This happens whether the allele combination is
homozygous (RR) or heterozygous (Rr) for the dominant gene.
• Recessive Inheritance means that a child expresses a nondominant trait only if
they receive two identical recessive alleles (rr only).
• Most traits, like intelligence and personality, come from Polygenic Inheritance. This
means many genes at different spots on chromosomes work together to affect a
complex trait. These genes each have a small but noticeable effect.
• Phenotype refers to the observable characteristics of a person, which show the
expression of their genotype. It is the result of the genotype and environmental
influences.
• Genotype is the genetic makeup of a person, including both characteristics that are
expressed (visible) and those that are not.
• Hidden alleles can be passed down for generations without being noticed and can be
expressed if both parents carry a hidden copy of that allele.
• Multifactorial Transmission happens when environmental experiences change
how a genotype is expressed. This shows how nature (genes) and nurture
(environment) interact to affect outcomes. For example, if someone inherits an athletic
gene (genotype), and their parents nurture this talent (environment), they may become
a skilled athlete (phenotype). If their talent isn't nurtured, their genotype for athletic
ability might not show up, or show up less. Many disorders, like ADHD, happen when
an inherited tendency interacts with an environmental factor, either before or after
birth.
• Epigenesis is a mechanism that turns genes on or off as they are needed or when
triggered by the environment. This process determines the functions of body cells by
turning on genes for needed cells and leaving genes for unneeded cells off. It helps
explain why identical twins are not exactly the same. The term refers to chemical
molecules attached to a gene that change how a cell "reads" the gene's DNA ("on, or
above, a genome").
o Environmental factors can cause epigenetic changes that might contribute to
common diseases like cancer, diabetes, and heart disease.
o Cells are especially prone to epigenetic changes during critical times like
puberty and pregnancy. Epigenetic changes, particularly those that happen
early in life, might be heritable (passed on).
o Genome Imprinting, or genetic imprinting, is an example of epigenesis.
Imprinting means that certain genetic traits are expressed differently depending
on whether they came from the mother or the father. In imprinted gene pairs,
genetic information from one parent is turned on, but genetic information from
the other parent is turned off. Imprinted genes are very important in controlling
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fetal growth and development. If the normal pattern of imprinting is messed up,
it can lead to abnormal fetal growth or congenital growth disorders.
o Prader-Willi Syndrome is a genetic disease that causes feeding problems,
behavioral issues, and intellectual disability. It most often happens when a
segment of a gene on paternal chromosome 15 is deleted, while the genes on
the maternal chromosome 15 are turned off.
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oThese disorders are more common in males. Examples include red-green color
blindness, hemophilia, and Duchenne muscular dystrophy (all on the X
chromosome).
• Chromosomal Abnormalities:
o These usually happen due to errors during cell division, leading to an extra or
missing chromosome. (Examples include XYY, XXX (triple X), XXY
(Klinefelter), XO (Turner), Fragile X ).
o The chance of these errors increases in babies born to women age 38 or older.
o Down Syndrome (trisomy 21, an extra chromosome 21) is the most common
chromosomal abnormality and causes about 40% of all cases of moderate to
severe mental retardation.
▪ The brains of children with Down syndrome look almost normal at birth
but shrink by young adulthood, especially in areas affecting thinking,
motor skills, and balance.
▪ With early help, their outlook is better than once thought. They often do
better in regular classrooms and with consistent therapies. As adults,
many live in small group homes and can support themselves, doing well
in structured jobs. (See image for common physical signs of Down
syndrome at birth ).
o Fragile X Syndrome: Signs include a long narrow face, prominent jaw, big
ears, large hands and feet, and enlarged testes (macroorchidism). It's an X-
linked dominant inheritance (over 200 CGG repeats in the FMR1 gene). The
most common heart issue is mitral valve prolapse. It's the most common
inherited cause of intellectual disability and the second most common genetic
cause (after trisomy 21). Diagnosis is confirmed with a molecular genetic test
for the CGG allele repeat size. Females can have Fragile X but usually with
milder symptoms; they might experience premature ovarian failure.
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with a difficult temperament might struggle in one family but do well in another, largely
depending on how parents handle them. So, it's the interaction of heredity and
environmental factors, not just one or the other, that leads to certain outcomes.
• Genotype-Environment Correlation: This is the tendency for certain genetic and
environmental influences to reinforce each other. It works in three ways to strengthen
how a genetic tendency shows up as an observable trait (phenotype):
1. Passive Correlations: Parents, who provide the genes that make a child
likely to have a certain trait, also tend to create an environment that encourages
the development of that trait. For example, a musical parent is likely to create
a home where music is heard often, give the child music lessons, and take
them to musical events. If the child inherited the parent's musical talent, the
child's musical ability will be due to both genes and environment. These are
most applicable to young children, whose parents have a lot of control over
their early experiences. This type only functions when the child is living with a
biologically related parent.
2. Reactive/Evocative Correlations: Children with different genetic makeups
cause different reactions from others. Other people react to the child's genetic
makeup. For example, parents who aren't musically inclined might make a
special effort to provide musical experiences for a child who shows interest and
ability in music.
3. Active Correlations: As children get older and have more freedom to choose
their own activities and environments, they actively1 pick or create experiences
that match their genetic tendencies. For instance, they might seek out musical
friends, take music classes, or study something related to music. This is also
called Niche-Picking: the tendency to look for environments that fit one's
genotype.
• Nonshared Environment: Siblings can be very different in intelligence and
personality. This could be because of genetic differences, which lead children to need
different kinds of stimulation or to react differently to a similar home environment.
Children may live in the same family, but that doesn't mean their experiences are
exactly the same (e.g., the eldest, middle, and youngest child have different
experiences ). So, even in the same family, influences are not identical. Some
behavioral geneticists believe that while heredity explains most of the similarity
between siblings, the nonshared environment explains most of the differences. This
includes subjective perceptions, as Adler noted (different ways of interpreting
experiences). Children's genetic differences can cause parents to react to them and
treat them differently. One child might be shy and get gentler treatment from parents,
while another might be bold and be given more freedom. Children also shape their
environments by the choices they make, and their genetic makeup influences these
choices. A child who loves to read might spend hours alone, while an athletic child
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might prefer playing outside with others. This means not only will their talents develop
differently, but their social lives will be different too. These differences often become
more noticeable as children get older and have more experiences outside the family.
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Not enough folic acid can put babies at risk of developing neurological defects
like anencephaly (brain formed incompletely) or spina bifida (spinal cord not
fully enclosed). Adding folic acid to enriched grain products helps. Low folate
levels are associated with ADHD.
• 2. Malnutrition:
o Can result in fetal growth restriction and low birth weight. Malnourished babies
sometimes have vitamin D deficiency leading to weak/soft bones. It affects the
mother, the baby, and even the next generation. Fetal undernutrition has been
linked with schizophrenia, and an increased risk of diabetes and
overweight/obesity in adulthood. Zinc deficiencies result in a higher risk of
death for both child and mother.
• 3. Physical Activity & Work:
o Moderate exercise does not endanger the fetuses of healthy women. Working
during pregnancy generally involves no special hazards.
o Contact sports, strenuous working conditions, occupational fatigue, and long
working hours might be linked to a greater risk of premature birth. Activities that
could result in a fall should be avoided.
• 4. Drug Intake:
o Medical Drugs: No medication should be taken by a pregnant or
breastfeeding woman unless it's essential for her health or her child's, and care
must be taken in choosing the safest drug available. (Harmful drugs include
thalidomide, DES, antipsychotics, the antibiotic tetracycline, barbiturates,
androgens, anti-cancer methotrexate, naproxen, ibuprofen, opiates, Accutane,
antidepressants, and antiepileptics ).
o Opioids: Not linked to birth defects but are associated with small babies, fetal
death, preterm labor, and meconium aspiration. The babies are also often
addicted themselves and go through withdrawal (abstinence syndrome) once
born. Newborns may show sleep disturbances, tremors, difficulty regulating
their bodies, irritability, crying, diarrhea, fever, and feeding difficulties.
o Alcohol: Prenatal alcohol exposure is the most common cause of intellectual
disability and the leading cause of birth defects.
▪ Fetal Alcohol Syndrome (FAS) is a combination of retarded growth,
face and body malformations, and disorders of the central nervous
system. FAS-related problems can include, in infancy, reduced
responsiveness to stimuli, slow reaction time, and reduced visual
sharpness. Throughout childhood, problems can include short attention
span, distractibility, restlessness, hyperactivity, learning disabilities,
memory deficits, and mood disorders, as well as aggressiveness and
problem behavior. Prenatal alcohol exposure is also a risk factor for
developing drinking problems and alcohol disorders in young adulthood.
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Nicotine: Maternal smoking leads to low birth weight. Tobacco use during
o
pregnancy also increases risks of miscarriage, growth retardation, stillbirth,
small head circumference, sudden infant death, colic in early infancy, long-term
respiratory, neurological, and behavioral problems, and later obesity and
cardiovascular disease.
o Caffeine: Consuming under 300 milligrams a day is not associated with an
increased risk of miscarriage, stillbirth, or birth defects. However, other reviews
have found a slightly increased risk of miscarriage, stillbirth, and low birth
weight in mothers who consume caffeine while pregnant. There are
suggestions that risk may increase with dosage. Thus, current
recommendations to limit caffeine to 200 milligrams or less (about one cup of
coffee) are still in place.
o Marijuana: Prenatal use is implicated in subtle deficits in problem-solving
skills and it may alter patterns of cerebral blood flow.
o Cocaine: Associated with miscarriage, delayed growth, premature labor, low
birth weight, small head size, birth defects, and impaired neurological
development. Newborns also show acute withdrawal symptoms and sleep
disturbances.
o Methamphetamine: Associated with preterm delivery and low birth weight.
It's implicated in fetal brain damage to areas of the brain involved in learning,
memory, and control. Newborns have less white matter in their brain.
• 5. Maternal Illness:
o AIDS: Caused by HIV; if the mother has AIDS, perinatal transmission (mother
to child) may occur.
o Rubella (German measles): If contracted by the mother before her 11th
week of pregnancy, it is almost certain to cause deafness and heart defects in
her baby.
o Toxoplasmosis: From a parasite; can cause fetal brain damage, severely
impaired eyesight or blindness, seizures, miscarriage, stillbirth, hearing loss,
and learning disabilities.
o Diabetes: Common; can cause heart and neural tube defects in the baby.
(The baby does not become diabetic from the mother having diabetes during
pregnancy ).
• 6. Maternal Anxiety, Stress, & Depression:
o Associated with a more active and irritable temperament in newborns, issues
with attentiveness (at 8 months), and negative emotionality or behavioral
disorders in early childhood.
o Children of mothers who were depressed during pregnancy were more likely to
be born premature, be developmentally delayed as toddlers, and show higher
levels of violent and antisocial behaviors in adolescence.
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