MODULE 2: THE

SCIENTIFIC SELF
(Process of Reproduction, Sex Determination,
Mechanics of Heredity, and Chromosomal
Abnormalities)
Chromosomes
◦ Chromosomes are thread-like molecules that carry hereditary information for
everything from height to eye color. They are made of protein and one molecule
of DNA, which contains an organism's genetic instructions, passed down from
parents. DNA contains the specific instructions that make each type of living
creature unique.
◦ Chromosomes are thread-like structures that hold genes. Genes are the individual
instructions that tell our bodies how to develop and function; they govern
physical and medical characteristics, such as hair color, blood type and
susceptibility to disease.
 There are many types of chromosome abnormalities. However,
they can be organized into two basic groups: numerical abnormalities and
structural abnormalities.
1. Numerical Abnormalities: When an individual is missing one of the
chromosomes from a pair, the condition is called monosomy. When an
individual has more than two chromosomes instead of a pair, the condition is
called trisomy.
2. Structural Abnormalities: A chromosome's structure can be altered in
several ways.
CHROMOSOMAL ◦ Deletions: A portion of the chromosome is missing or deleted.
◦ Duplications: A portion of the chromosome is duplicated, resulting in
ABNORMALITIES extra genetic material.
◦ Translocations: A portion of one chromosome is transferred to another
chromosome. There are two main types of translocation. In a reciprocal
translocation, segments from two different chromosomes have been
exchanged. In a Robertsonian translocation, an entire chromosome has
attached to another at the centromere.
◦ Inversions: A portion of the chromosome has broken off, turned upside
down, and reattached. As a result, the genetic material is inverted.
◦ Rings: A portion of a chromosome has broken off and formed a circle
or ring. This can happen with or without loss of genetic material.
 ▪ Down syndrome cases are caused by trisomy 21. An extra
chromosome (chromosome 21) originates in the development of
either the sperm or the egg. When the egg and the sperm unite to
form the fertilized egg, three (rather than two) chromosomes 21
are present. As the cells divide the extra chromosome is repeated
in every cell.
▪ John Langdon Down, the doctor who first identified the
syndrome.
1. Down ▪ Some common physical signs of Down syndrome include:
◦ Eyes that slant upward
Syndrome ◦ Small ears that may fold over slightly at the top
◦ Small mouth that makes the tongue appear large
(Trisomy 21) ◦ Small nose with a flattened bridge
◦ Short neck
◦ Small hands with short fingers
◦ 2 instead of 3 palm creases, including one across the palm and one
around the base of the thumb
◦ Short height
◦ Loose joints
 ◦ In the case of trisomy 18, the baby has three copies of
chromosome 18.
◦ The condition is named after the British physician and geneticist
John Edwards who discovered the syndrome.
◦ Signs and symptoms of trisomy 18
Babies with trisomy 18 have low birth weight, have a weak
cry and startle to sound. They have problems feeding and fail to
thrive. They have a small head size, with a prominent back of the
2. Edwards head (occiput). Their ears are usually low-set and the openings of
their eyes, their nose and their mouth are small. Their sternum
Syndrome (breastbone) is typically short. Almost all babies with trisomy 18
have heart defects. They have clenched fists from before birth and
extending the fingers fully is difficult. Their elbows and knee joints
(Trisomy 18) are in a bent position rather than relaxed. They typically have club
feet and their feet have been described as a “rocker bottom” due to
their shape. Babies with trisomy 18 may also have spina bifida, cleft
lip and palate, eye problems and hearing loss. Some
develop seizures in the first year of life, kidney problems
and scoliosis (curvature of the spine).
Feeding difficulties, heart problems and an increased
susceptibility to infection are factors which contribute to the death of
children with trisomy 18.
 ◦ Trisomy 13 is a genetic disorder that your baby gets when she has an
extra 13th chromosome. In other words, she has three copies of her
chromosome 13 when she should have just two. It happens when cells
divide abnormally during reproduction, and create extra genetic
material on chromosome 13.
◦ Dr. Klaus Patau.
◦ Signs and symptoms of trisomy 13
Babies with trisomy 13 often have a normal birth weight, a
3. Patau small head and a sloping forehead. Noses are usually large (“bulbous”),
ears are low-set and unusual in shape, eye defects occur frequently, and
Syndrome cleft lip and palate as well as heart defects are very common. Many babies
with trisomy 13 are born with small areas of missing skin on the scalp
(Trisomy 13) (cutis aplasia), which resemble ulcers.
The brains in babies with trisomy 13 usually have major
structural problems and often, the brain does not divide properly into
two hemispheres, resulting in a condition called holoprosencephaly. Many
babies with trisomy 13 have extra fingers and toes (polydactyly). Some
present with a sac attached to the abdomen in the area of the umbilical
cord (omphalocele), which contains some of the abdominal organs, as
well as spina bifida. Girls may have an abnormally shaped uterus, called a
bicornuate uterus. In boys, the testes sometimes fail to descend into the
scrotum.
 ▪ Turner syndrome, a condition that affects only females, results when
one of the X chromosomes (sex chromosomes) is missing or partially
missing. Turner syndrome can cause a variety of medical and
developmental problems, including short height, failure of the ovaries
to develop and heart defects.
▪ Dr. Henry H. Turner
▪ Signs & Symptoms of Turner Syndrome
◦ Wide or weblike neck
◦ a low hairline at the back of the head

4. Turner ◦ low-set ears

◦ abnormal eye features, including drooping of the eyelids

Syndrome ◦ abnormal bone development, especially the bones of the hands and
elbows
◦ a lack of breast development at the expected age (usually by age 13)
◦ a larger than usual number of moles on the skin
◦ Slowed growth
◦ Short fingers and toes
◦ Failure to begin sexual changes expected during puberty
◦ Early end to menstrual cycles not due to pregnancy
◦ For most women with Turner syndrome, inability to conceive a child
without fertility treatment
 ▪ Klinefelter syndrome is a genetic condition that results when a boy
is born with an extra copy of the X chromosome. Klinefelter
syndrome is a common genetic condition affecting males, and it
often isn't diagnosed until adulthood.
▪ Dr. Henry Klinefelter
▪ Signs and symptoms
◦ Larger breasts than normal
◦ Less facial and body hair, and it comes in later
5. Klinefelter ◦ Less muscle tone, and muscles grow slower than usual

Syndrome ◦ Longer arms and legs, wider hips, and a shorter torso than other
boys their age
◦ Small penis and small, firm testicles
◦ Taller than usual for the family
◦ Infertility (can’t have children because they can’t make enough
sperm)
◦ Low sex drive
◦ Low testosterone levels
◦ Problems getting or keeping an erection
 ▪ Wolf-Hirschhorn syndrome is caused by a deletion of genetic
material near the end of the short (p) arm of chromosome 4. This
chromosomal change is sometimes written as 4p-. The size of the
deletion varies among affected individuals; studies suggest that
larger deletions tend to result in more severe intellectual disability
and physical abnormalities than smaller deletions.
▪ Kurt Hirschhorn and Ulrich Wolf
▪ The most common symptoms are abnormalities of the face,
delayed development, intellectual disabilities, and seizures. Other
1. Wolf- problems your baby could have include:
◦ Bulging, wide-set eyes
Hirschhorn ◦ Droopy eyelids and other eye problems

Syndrome ◦ Cleft lip or palate

◦ Downturned mouth
◦ Low birth weight
◦ Microcephaly, or an unusually small head
◦ Underdeveloped muscles
◦ Scoliosis
◦ Heart and kidney problems
◦ Failure to thrive
 ◦ Jacobsen syndrome is caused by a loss of genetic material in
chromosome 11. This occurs as an entirely random error in cell
division in most cases. This normally occurs during the formation
of reproductive cells or early on during fetal development. The
number of genes deleted from the chromosome will determine
how severe the disorder is. Jacobsen syndrome is also associated
with autism.
◦ Petrea Jacobsen
◦ One of the initial symptoms parents may notice is abnormally slow
growth, both in the womb and after birth. Many people with
2. Jacobsen Jacobsen syndrome will be shorter than average at their adult
height. They may also have macrocephaly, or a larger-than-average
head size. Trigonocephaly is another common symptom. This gives
Syndrome the forehead a pointed look.
◦ Many people with Jacobsen syndrome will have cognitive
impairment. This can translate to delayed development, including
the development of both speech and motor skills. Some infants will
have difficulty feeding. Many will also have learning disabilities,
which may be severe.
◦ Behavioral problems are also symptoms associated with Jacobsen
syndrome. These can be related to compulsive behavior, easy
distractibility, and a short attention span. Many patients have both
Jacobsen syndrome and ADHD. It’s also associated with autism.
 ◦ Cri du chat syndrome - also known as 5p- syndrome and cat
cry syndrome - is a rare genetic condition that is caused by
the deletion (a missing piece) of genetic material on the small
arm (the p arm) of chromosome 5.
◦ Jerome Lejeune
◦ The clinical symptoms of cri du chat syndrome usually
include a high-pitched cat-like cry, mental retardation, delayed
3. Cri du chat development, distinctive facial features, small head size
(microcephaly), widely-spaced eyes (hypertelorism), low birth
Syndrome weight and weak muscle tone (hypotonia) in infancy. The cat-
like cry typically becomes less apparent with time.
◦ Most individuals who have cri du chat syndrome have
difficulty with language. Half of children learn sufficient
verbal skills to communicate. Some individuals learn to use
short sentences, while others express themselves with a few
basic words, gestures, or sign language.