Republic of the Philippines

City of Olongapo
GORDON COLLEGE
COLLEGE OF EDUCATION, ARTS AND SCIENCES
Olongapo City Sports Complex, Donor St., East Tapinac, Olongapo City 2200
Telefax No.: (047) 602-7175 loc 322
www.gordoncollege.edu.ph

EDU SCI06A
Genetics (Lecture)

1. DOWN SYNDROME (TRISOMY 21) • Triple X Syndrome occurs when there is a

• Down syndrome is a condition in which a Third X chromosome present with two
baby is born with an extra chromosome other sex chromosomes in a female.
number 21. • Dr. Patricia Jacobs (1959)
• TRISOMY 21: There is an extra copy of • Causes: Due to genetic error. The
chromosome 21 in every cell and is the chromosomal change usually occurs as a
most common form of Down syndrome. random event during the formation of
• MOSAICISM: It occurs when a child is reproductive cells.
born with an extra chromosome in some • Nondisjunction is an error in cell division,
but not all their cells. can result in sex cell with abnormal number
• TRANSLOCATION: In this type of Down of chromosomes.
syndrome, children have only an extra part • Triple X Syndrome
of chromosome 21.
• Causes: One of the chromosomes doesn’t 4. TURNER’S SYNDROME (XO SYNDROME)
separate properly. The baby ends up with • Turner syndrome results when one normal
three copies, or an extra partial copy, of X chromosome is present in a female's cells
chromosome 21, instead of two. and the other sex chromosome is missing
• Case Study of 17-Year-Old with Down or structurally altered.
Syndrome • Dr. Henry Turner (1938)
• Types (Monosomy X): Each cell has only
2. KLINEFELTER’S SYNDROME (XXY one X chromosome instead of two. About
SYNDROME) 45% of people with TS have this type.
• Klinefelter syndrome is a genetic condition • Types (Mosaic Turner Syndrome):
in which a boy is born with an extra X Some of the baby’s cells have a pair of X
chromosome. chromosomes, while other cells only have
• Dr. Harry Klinefelter (1942) one. It happens randomly during cell
• Causes: The syndrome occurs as a division early in pregnancy.
random error and is not an inherited • Types (Inherited Turner Syndrome):
condition. Either the egg or the sperm that Babies may have inherited Turner
came together had an extra X Syndrome.
chromosome. • SHOX (Short Stature Homeobox Gene):
• Diagnostic 1 (Hormonal Testing): to The loss of one copy of this gene likely
detect and evaluate hormone imbalances causes short stature and skeletal
that may get you sick. abnormalities in women with Turner
• Diagnostic 2 (Chromosome Analysis): syndrome.
a test that looks at the genetic material • Diagnosis (Maternal Serum
inside the chromosomes. Screening): It checks for signs showing
• Platelet Aggregation in Klinefelter an increased chance of a chromosomal
Syndrome is Not Aggravated by problem with the baby.
Testosterone Replacement Therapy • Diagnosis (Amniocentesis and
Chorionic Villous Sampling): It check
3. TRISOMY X (XXX SYNDROME) the amniotic fluid or tissue from the
placenta.
 Republic of the Philippines
City of Olongapo
GORDON COLLEGE
COLLEGE OF EDUCATION, ARTS AND SCIENCES
Olongapo City Sports Complex, Donor St., East Tapinac, Olongapo City 2200
Telefax No.: (047) 602-7175 loc 322
www.gordoncollege.edu.ph
EDU SCI06A
Genetics (Lecture)
• Diagnosis (Ultrasound): The healthcare
provider may see heart problems or fluid
around the neck.
• Treatment: Human Growth Hormone,
Estrogen Therapy, Cyclic Progestins
• Clinical Case Report of Turner’s Syndrome
with Grave’s Disease
5. JACOBS SYNDROME (XYY SYNDROME)
• Males with 47,XYY Syndrome have an extra
Y chromosome in each male’s cells. Some 7. SICKLE CELL ANEMIA
have an extra Y chromosome in only some
of their cells called 46,XY/47,XYY
mosaicism.
• Incidentally discovered by Avery
Sandburg (1961)
• Diagnosis (Amniocentesis): Gathering
a sample of fluid that surrounds the fetus.
• Diagnosis (Chorionic Villous
Sampling): Removal of tissue samples
from a portion of the placenta.
• 47,XYY Syndrome is a lifelong condition
that is not inherited and cannot be
prevented.
• Clinical Case Report of A 13-Year-Old Boy
with Tall Stature
6. PHENYLKETONORIA
• Phenylketonuria is a rare inherited disorder
that increases the levels of a substance
called phenylalanine in the blood which
results in mental retardation and other
neurological problems when treatment is
not started within the first few weeks of
life.
• Chromosome 12 – mutations of gene for
phenylalanine hydroxylase
• Types (Classic PKU): The enzyme
needed to break down phenylalanine is
missing or severely reduced.
• Types (Moderate PKU): Moderate PKU is
for individuals who tolerate 350-400 mg
dietary phenylalanine per day.
• Types (Mild Hyperphenylalaninemia):
Patients with blood phenylalanine
concentrations of 600-1,200 micromol/L.
• Diagnosis: Blood Spot Screening – collect
drops of blood and when it is confirmed,
treatment will be given straight away to
reduce the risk of serious complications.
• The First Study of Successful Pregnancies
in Chinese Patients with Phenylketonuria
• It is a group of inherited red blood cell
disorders that affects the shape of red
blood cells, which carry oxygen to all parts
of the body.
• James Bryan Herrick (1910)
• Chromosome 11
• Types (Hemoglobin SS Disease): It
occurs when you inherit copies of the
hemoglobin S gene from both parents and
forms hemoglobin known as Hb SS.
• Types (Hemoglobin SC Disease): It
occurs when you inherit the Hb C gene
from one parent and the Hb S gene from
the other.
• Types (Hemoglobin SB+
Thalassemia): The size of the red blood
cell is reduced because less beta protein is
made. (beta globin gene production)
• Types (Hemoglobin 0 Thalassemia): It
is associated with a poorer prognosis.
• Types (Hemoglobin SD, Hemoglobin
SE, and Hemoglobin SO): These types
of sickle cell disease are rarer and usually
don ’t have severe symptoms.
• Types (Sickle Cell Traits): People who
only inherit a mutated gene (hemoglobin S)
from one parent are said to have sickle cell
trait.
• A 19-Year-Old Man with Sickle Cell Disease
Presenting with Spinal Infarction
 Republic of the Philippines
City of Olongapo
GORDON COLLEGE
COLLEGE OF EDUCATION, ARTS AND SCIENCES
Olongapo City Sports Complex, Donor St., East Tapinac, Olongapo City 2200
Telefax No.: (047) 602-7175 loc 322
www.gordoncollege.edu.ph

EDU SCI06A
Genetics (Lecture)

8. CYSTIC FIBROSIS cells in the brain especially damage in

• It is an inherited disorder that causes BASAL GANGLIA.
severe damage to the lungs, digestive • In USA, 1/10,000 people were affected by
system, and other organs in the body. this disease.
• Chromosome 7 • Before 20, Juvenile Huntington’s
• Dr. Dorothy Andersen (1938) Disease
• muscoviscidosis – presence of thickened • George Huntington (1872)
mucus. • Chromosome 4
• Cystic Fibrosis Transmembrane • Diagnosis:
Conductance Regulator (CFTR) - General physical examination
protein - A review of your family medical history
• Tests: Blood Test, DNA Test, Sweat Test - Neurological and psychiatric
• Treatment: Chest Therapy, Oscillating examinations.
Devices • Test and Diagnosis:
• Cystic Fibrosis Late Diagnosis: A Case - Neurological Examination
Report - Sensory Symptoms
- Psychiatric Symptoms
9. TAY-SACHS DISEASE (GM2 - Neuropsychological Testing
GANGLIOSIDOSIS) - Psychiatric Evaluation
• It's caused by the absence of an enzyme - Brain Imaging
that helps break down fatty substances. • Most Troubling Symptoms:
These fatty substances, called GM2 - Chorea or involuntary movements
gangliosidosis, build up to toxic levels - Irritability
that destroy the nerve cells in the brain and - Obsessive-compulsive thoughts and
spinal cord. actions
• Chromosome 15 • A Woman in her 80s with a 5-year History
• Warren Tay (British Ophthalmologist) of Worsening Motor Symptoms
and Bernard Sachs (New York
Neurologist) (1881) 11. HEMOPHILIA A (FACTOR VIII
• 1 in 3,600 is affected by this disease. DEFICIENCY OR CLASSIC HEMOPHILIA)
• There is no cure in Tay-Sachs Disease • It is a genetic disorder caused by missing
• Diagnosis (DNA Sequencing): The or defective factor VIII (FVIII), a clotting
blood test checks the level of hexominidase protein. Although it is passed down from
A the enzyme in the blood. parents to children, about 1/3 of cases
• The first family with Tay-Sachs disease in found have no previous family history.
Cyprus: Genetic analysis reveals a • John Conrad Otto (1803)
nonsense (c.78G>A) and a silent • Sex-Linked Trait
(c.1305C>T) mutation and allows • Diagnosis (Screening Test): They are
preimplantation genetic diagnosis blood tests that show if the blood is clotting
properly.
10. HUNTINGTON’S DISEASE • Diagnosis (Clotting Factor Test):
• It is a neurodegenerative disorder that Factor Arrays; they are required to
causes the progressive breakdown of nerve diagnose a bleeding disorder.
• Acquired Hemophilia A in an Elderly Man
 Republic of the Philippines
City of Olongapo
GORDON COLLEGE
COLLEGE OF EDUCATION, ARTS AND SCIENCES
Olongapo City Sports Complex, Donor St., East Tapinac, Olongapo City 2200
Telefax No.: (047) 602-7175 loc 322
www.gordoncollege.edu.ph

EDU SCI06A
Genetics (Lecture)

12. NEUROFIBROMATOSIS
• It is a rare genetic disorder that typically
causes benign tumors of the nerves and
growths in other parts of the body,
including the skin.
• Types (NF1): It is usually diagnosed
during early childhood. Signs are often
noticeable at birth or shortly afterward and
almost always by age 10.
• Types (NF2): It may appear during
childhood, adolescence, or early adulthood
which usually results from the development
of benign, slow-growing tumors in both
ears.
• Types (Schwannomatosis): It is a rare
type of neurofibromatosis that usually
affects people after the age of 20. It causes
tumors to develop on the cranial, spinal,
and peripheral nerves but doesn't usually
grow on both hearing nerves.
• Diagnosis:
- Eye Exam
- Hearing and Balance Exams
Audiometry - a test that measures
hearing
Electronystagmography - a test that
uses electrodes to record your eye
movements.
Brainstem auditory evoked
response - a test that measures the
electrical messages that carry sound
from the inner ear to the brain
- Imaging Tests
- Genetic Test
• Lady with Wings: A Case Report of Giant
Neurofibromatosis Type I