Manalo, Aina Beatriz M.

Sampang, Chayna
NU-204

1. A 39-year-old pregnant mother sought consultation at the health center due

to vaginal bleeding. She is 35 weeks pregnant with an OB score of G5P2.
She also brought her youngest child 12 months old due to cough and colds.
Her husband is a construction worker in a nearby city. Their family lives in an
apartment together with her in-laws. Identify ALL risk factors of the mother
and justify each. (4 pts)

a. Age (39 years): Advanced maternal age is associated with increased

risks, including complications during pregnancy and childbirth.
b. OB score of G5P2 (Gravida 5, Para 2): Higher gravidity may increase the
risk of complications due to the cumulative effects of multiple
pregnancies.
c. Vaginal bleeding at 35 weeks gestation: Indicates a potential
complication such as placental abruption or preterm labor, posing a
risk to both the mother and fetus.
d. Living in an apartment with in-laws: This living arrangement may
contribute to psychosocial stress, impacting maternal well-being and
potentially leading to adverse outcomes.
e. Husband’s occupation as a construction worker: The physical
demands and potential environmental hazards associated with this
occupation can pose risks to maternal health.
f. Presence of a 12-month-old child with cough and colds: Indicates a
potential source of infection within the household, posing a risk of
illness transmission to the pregnant mother.

2. Complete the table below (4pts)

Disease of the Characteristic of parents Chances the offspring

inheritance (if both has the disease will inherit the disease
or only one is affected)

a. Both Parents are a.

Autosomal dominant Unaffected (homozygous)
 Both parents have two 0% — Child will be disease
healthy genes for the and carrier-free
specific trait.
b.
b. One Parent Affected,
One Unaffected 50% — Child has a 50%
chance of inheriting the
The affected parent disease
contributes one copy of
the autosomal dominant
c.
gene and the unaffected
parent contributes a
25% — chance of
healthy recessive gene.
offspring being disease
and carrier-free
c. Both parents are
affected (heterozygous)
25% — chance of
Each parent possesses offspring being
one copy of a specific homozygous dominant
genetic mutation or (likely incompatible with
variant linked to a life)
particular condition, yet
they do not display any 50% — chance of
symptoms of the condition offspring inheriting the
themselves. disease. (partial or
complete)

a. Both Parents are a. 25% chance that a

Autosomal recessive Unaffected (homozygous) child will be
diseases and
Both parents have two carrier free
healthy genes for the (homozygous
specific trait. dominant for the
healthy gene)
b. One Parent Affected,
One Unaffected
b. A 50% chance that
The affected parent the child will be,
contributes one copy of like the parents,
the autosomal dominant free of disease but
gene and the unaffected carrying the
parent contributes a unexpressed
healthy recessive gene. disease gene
(heterozygous).
c. Both parents are
 affected (heterozygous) c. A 25% chance that
the child will have
Each parent possesses the disease
one copy of a specific (homozygous
genetic mutation or recessive)
variant linked to a
particular condition, yet
they do not display any
symptoms of the
condition themselves.

a. Both Parents Affected a. All offspring are

X linked dominant (Homozygous) affected. This is because
both parents carry two
Both parents have two copies of the affected
copies of the affected gene on their X
gene on their X chromosomes.
chromosomes.
b. 50% chance for
b. Only One Parent offspring to be affected.
Affected (Heterozygous) The affected parent
passes either the normal
One parent carries one or affected X
normal X chromosome chromosome to their
and one affected X offspring.
chromosome.
c. All daughters inherit the
c. Affected Father affected X chromosome
and, therefore, exhibit the
Fathers with the affected disease. Sons inherit the
gene on their X unaffected Y
chromosome will pass it chromosome and are
to all their daughters. unaffected.

d. Affected Mother d. All offspring inherit the

(Homozygous) affected X chromosome,
as the mother carries two
A mother with two copies of the affected
affected X chromosomes gene.
will pass one affected X
chromosome to all her e. Sons and daughters
children. each have a 50% chance
of inheriting the affected
e. Affected Mother X chromosome. Sons
(Heterozygous) inheriting the affected X
chromosome are
A mother with one normal affected, while daughters
 and one affected X need to inherit the
chromosome. affected X from both
parents to manifest the
f. Both parents are disease.
carriers (heterozygous)
f. Sons and daughters
Both parents carry one each have a 50% chance
normal and one affected of being affected.
X chromosome.

Note: It appears in every

generation. This
inheritance pattern is
observed consistently in
each generation, as the
gene is present on the X
chromosome and is
passed down from one
generation to the next.

a. Both Parents Affected a. Both Parents Affected

X linked recessive (Homozygous) (Homozygous):

Both parents have two All daughters will be

copies of the affected carriers, and all sons will
gene on their X express the disease.
chromosomes.
b. Only One Parent
b. Only One Parent Affected (Heterozygous):
Affected (Heterozygous)
Daughters have a 50%
One parent carries one chance of being carriers,
normal X chromosome and sons have a 50%
and one affected X chance of being
chromosome. unaffected.
c. Affected Father:
c. Affected Father
All daughters will be
Fathers with the affected carriers, and sons will not
gene on their X inherit the affected X
chromosome will pass it chromosome.
to all their daughters. d. Affected Mother
(Homozygous):
d. Affected Mother
(Homozygous) All children will inherit the
 A mother with two affected X chromosome,
affected X chromosomes with sons expressing the
will pass one affected X disease and daughters
chromosome to all her being carriers.
children. e. Affected Mother
(Heterozygous):
e. Affected Mother
(Heterozygous) Daughters have a 50%
chance of being carriers,
A mother with one normal and sons have a 50%
and one affected X chance of being
chromosome. unaffected.
f. Both Parents are
f. Both parents are Carriers (Heterozygous):
carriers (heterozygous)
Daughters have a 50%
Both parents carry one chance of being carriers,
normal and one affected and sons have a 50%
X chromosome. chance of being
unaffected.

3. The parents brought their 3-year-old child to the health center due to cough,
colds, and fever for 3 days. Upon examination, the nurse noticed the
following characteristics: poor muscle tone, protruding tongue, slanted
palpebral fissure, wide space between the first and second toes, simian line.
The mother is already 48 years old while the father is 55 years old.

A. Describe the possible chromosomal abnormality of the child. Justify your

answer. (2pts)

- The child described in the situation displays physical traits indicative of Down
syndrome or Trisomy 21. The observed features, such as diminished muscle
tone, tongue protrusion, slanted palpebral fissure, wide gap between the first
and second toes, and the presence of a simian line, align with the typical
manifestations of Down syndrome. It is plausible that the child's karyotype
would reveal a chromosomal arrangement of 47XY21+ or 47XX21+, indicating
the presence of an additional chromosome 21. The physical attributes noted
correspond with the well-known signs of Down syndrome, and the ages of the
parents 48 years for the mother and 55 years for the father are in line with the
heightened risk of chromosomal abnormalities, particularly trisomy 21.
Maternal age beyond 35 is recognized as a significant factor contributing to
 chromosomal anomalies, with Down syndrome being more prevalent in older
mothers.

B. What are the possible causes of the condition (chromosomal abnormalities)?

Justify your answer. (2pts)

- The potential cause of Down Syndrome, arise from irregularities in

chromosomal distribution during the process of meiosis. Nondisjunction
occurs when chromosomes fail to segregate evenly during cell division,
leading to an abnormal chromosome count in either the sperm or the ovum. If
a gamete with an abnormal chromosome count merges with a normal one,
the resulting zygote may exhibit either 47 or 45 chromosomes instead of the
typical 46. In the case of Down Syndrome, the anomaly involves an additional
copy of chromosome 21, resulting in a total of 47 chromosomes. The mention
above of the mother's age, 48 years old, assumes significance in this context,
as the likelihood of Down Syndrome is notably higher with advancing maternal
age, especially in women aged 35 and above. This corresponds with
information alluding to an increased incidence of Down Syndrome in women
over 35 years old. Consequently, the chromosomal abnormality associated
with Down Syndrome in this particular case is likely attributable to
nondisjunction during meiosis, leading to the presence of an extra copy of
chromosome 21 in the child's genetic composition.