SLU School of Medicine 

Department of Anatomy, Section of Embryology 

 
 

Written Output for Individual Unit 2 Case Based Learning 

 

Submitted to: 
Dr. Ma. Gemma M. Pinlac, M.D. 
 
 

Submitted by: 
REYES, Justine Ericca A. 
 

Submitted on: 
September 8, 2021 
CASE 3
A 30 y/o female gave birth to a baby boy noted to have a webbed neck, swelling in the hand
and foot with skeletal abnormalities.

1 .Give the syndrome

2. Explain the cause of such abnormality

The baby has Noonan syndrome. This condition is an autosomal dominant disorder
which means that one copy of the mutated gene is enough to cause the disorder. This
condition may be inherited from an affected parent. Or, this may also result from new gene
mutations even if there is no family history of the disorder. The genes that are affected or
mutated are PTPN11, SOS1, RAF1, KRAS, NRAS, and BRAF where most cases of this
syndrome result from the mutation in PTPN11 gene. All these genes are important as they
provide instructions for making proteins needed in signaling pathways. They also contribute
to cell movement, cell division, and cell differentiation. Mutations in these aforementioned
genes would cause the resulting proteins to be constantly active which disrupts the regulation
of systems in the cells.

The clinical manifestations of patients with Noonan syndrome are triangular-shaped face,
hypertelorism or having abnormally large distance in between the eyes, down-slanting of
palpebral fissures, low-set ears, high nasal bridge, high arched palate, short webbed neck, low
posterior hairline, excess nuchal skin, and broad chest with widely spaced nipples. Congenital
heart defects, problems with lymphatic vessels as manifested by the patient in this case as
swelling in the hand and foot, skeletal abnormalities may be scoliosis or pectus deformity in
the sternum, and auditory problems such as hearing loss are among other characteristics of
patients with this condition.

CASE 5
A couple came for consultation asking what test could be done since on the wife’s side there
is a family history of Down syndrome and what are the chances of giving birth to a baby
with Down syndrome. Can this be prevented?

Down syndrome is caused by an extra copy of chromosome 21. In most cases of

Down Syndrome, all the cells have extra chromosome 21 resulting from meiotic
nondisjunction. In some cases, the extra chromosome 21 material is translocated to another
chromosome, usually chromosome 14, 15, or 22. And in rare cases, the extra chromosome 21
is present in only some of the cells, which is also called mosaicism.

There are screening and diagnostic tests that may be done in order to check for
chromosomal abnormalities. Screening tests such as non-invasive tests specifically maternal
serum screening (“quad screen”), non-invasive prenatal screening (NIPS) test, and ultrasound
may be done prior to undergoing an invasive diagnostic test to lessen the need for invasive
testing, and to ultimately decrease the potential risk of fetal loss brought about by invasive
procedures. The quad screen assesses for concentrations of serum alpha-fetoprotein (AFP),
human chorionic gonadotropin (hCG), unconjugated estriol, and inhibin A in the maternal
circulation. The NIPS test uses cell-free fetal DNA sequences isolated from a maternal blood
sample.

Invasive procedures are advised for women who have high risk pregnancies. Factors
that are put into consideration are: advanced maternal age (35 years and older), previous
family history of genetic problem, presence of maternal disease, and abnormal ultrasound or
screening test. The mother in this case may opt for an invasive procedure due to the family
history of Down syndrome.

The diagnostic tests that can be done are invasive procedures such as karyotyping and
chromosomal microarray analysis (CMA). Karyotyping has a high accuracy rate when
detecting chromosomal abnormalities but cannot detect microdeletions, duplications,
single-gene defects, or multifactorial disorders. While the CMA can accurately detect the
number and structural abnormalities of chromosomal imbalances as well as alterations such
as microdeletions or microduplications. This has the advantage of high resolution, a short
detection cycle, and more objective results as compared with karyotyping. The sample
needed for karyotyping or CMA can be obtained through amniocentesis, chorionic villi
sampling, and cordocentesis. Amniocentesis is where amniotic fluid is acquired by inserting a
needle trans-abdominally into the abdominal cavity. Chorionic villi sampling, where placental
villi is aspirated for biopsy. And cordocentesis is where fetal blood is obtained through
inserting the needle in the umbilical cord with the guidance of ultrasound. Although, this
technique has a slightly higher incidence of fetal loss than amniocentesis.

In one third of people with the translocation type of Down syndrome, the
translocation is inherited from one of the parents. The parent may be a carrier of the
translocation. Relatives of a person who carries a translocation have an increased chance of
being translocation carriers. It is important to note that because translocation carriers have the
usual amount of genetic material, they have no traces of the syndrome themselves. They have
no way of knowing they are carriers unless they undergo a chromosomal analysis. When
translocation carriers produce an egg or sperm, it is possible for them to pass on the
translocated chromosome.

And no, this condition cannot be prevented. Because Down syndrome is present from
the time of conception, there is nothing that the mother could do to influence the probability
of her fetus having or not having the chromosomal abnormality.
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