Names : ARNOCO, GLORELIE L.
DE CASTRO, VENICE ANGELIE B.
Year level & Section: BSN2 - B6
Subject: MCN
ASSIGNMENT:
• MAKE A RESEARCH ON THE FOLLOWING TYPES OF DISORDERS AND SUBMIT
PICTURES PHYSICAL APPEARANCE OF EACH DISORDER. PLACE IN LONG BOND
PAPERS. THIS IS BY PAIR. YON CAN CHOOSE YOUR PARTNER
1. AUTOSOMAL DOMINANT INHERITANCE
ACHONDROPLASIA
- An affected individual carries the single mutant gene in heterozygous state on one of
the pair of autosomal chromosomes. Individuals with autosomal dominant diseases have a 50-
50 chance of passing the mutant gene and therefore the disorder onto each of their children.
Examples : Huntington disease, neurofibromatosis, achondroplasia, and polycystic kidney
disease.
2. AUTOSOMAL RECESSIVE INHERITANCE
CYSTIC FIBROSIS
-An affected individual carries two copies of mutant gene in homozygous state.
• An affected person usually has unaffected parents who each carry a single copy of the
mutated gene (and are referred to as carriers).
• Two unaffected carrier parents have a 25% chance with each pregnancy of having a male or
female child affected by the disorder and the risk of having a carrier child is 50%.
• E.g. cystic fibrosis, sickle cell anemia, phenylketonuria, thalassemia, Tay-Sachs disease,
galactosaemia.
3. X-LINKED DOMINANT INHERITANCE
HYPOPHOSPHATEMIC RICKETS
-These disorders are caused by mutations in genes on the X chromosomes.
A woman with an X - Linked dominant disorder has a 50% chance of having an affected
daughter or son with each pregnancy, e.g. hypophosphatemic rickets.
The sons of a man with an X - Linked dominant disorders will not be affected, and all his
daughters will inherit the condition.
4. X-LINKED RECESSIVE INHERITANCE
DUCHENNE MUSCULAR DYSTROPHY
-This is also caused by mutant gene on the X - Chromosome.
In this type of inheritance males are affected, but females can be carriers.
The sons of a man with an X - Linked recessive disorder will not be affected, and his daughters
will carry one copy of the mutant gene.
• With each pregnancy, a woman with an X
- Linked recessive disorder has a 50% chance of having daughters who carry one copy of the
mutated gene
E.g. - hemophilia, color blindness, Duchenne muscular dystrophy
5. NON-DISJUNCTION ABNORIALITIES
EDWARD’S SYNDROME
-In genetics, nondisjunction is a failed separation of chromosomes during cell division
that results in daughter cells containing an abnormal number of chromosomes (aneuploidy). It
refers to either sister chromatids or homologous chromosomes improperly separating during
mitosis, meiosis I, or meiosis II. The excess or deficit chromosomes alters cell function and may
be lethal.
6. TRANSLOCATION ABNORMALITIES
DOWN SYNDROME
-Translocation is a type of chromosomal abnormality in which a chromosome breaks and
a portion of it reattaches to a different chromosome.
7. DELETION ABNORMALITIES
WOLF-HIRSCHHORN SYNDROME
-The term deletion simply means that a part of a chromosome is missing or deleted. A
very small piece of a chromosome can contain many different genes. When genes are missing,
there may be errors in the development of a baby since some of the instructions are missing.
8. ISOCHROMOSOMES
CAT EYE SYNDROME
-Isochromosomes are chromosomes composed of mirror images of one of the arms of
the chromosome. As a result, the opposite chromosome arm may be deleted and the cells only
have a single copy of the genetic material in the arm present in the normal member of the
homologous pair.
