COMMON

CHROMOSOMAL
BIRTH DEFECTS
BY J E N N I F E R R O B I N S O N

INTRODUCTION
My name is Jennifer Robinson. Im in 11th grade and in the ISM program here
at Clear Springs, sponsored by Mrs. Click. I am mentoring with Curtis
Svoboda, an ultrasound technician at Maternal Fetal Medicine Associations of
America.
*some information in this presentation comes from outside sources*

WHAT IS ISM?
ISM is a program that allows students to leave campus and mentor with a
person in a field they consider to pursue. ISM students are required to turn
in an activity log which shows their completed hours, and a journal entry
explaining what they did in their mentorship that week. ISM also requires a
final presentation that acts as a journal of everything learned and
researched over the course of the semester.

Name- Jennifer Robinson

Mentor name- Curtis Svoboda
My mentor Curtis was in the navy so he attended a
sonography school while he lived on the naval base.

TRISOMY 13
Trisomy 13, also known as Patau syndrome, effects 1 out of 16,000
pregnancies annually. Trisomy 13 has no identifiable cause, but becomes
much more common as the mothers gestational age increases. Signs of
trisomy 13 include little to no movement of the fetus during anatomy scans,
heart defects, spinal defects, eyes with little to no separation between them
(a cyclops eye), cleft lip/palette, and even sometimes a probiscus. A
probiscus is defined as an extremity on the face that resembles a horn.

TRISOMY 18
Trisomy 18, also known as Edwards syndrome is found in 1 out of 5,000 LIVE
births annually. Like trisomy 13 disorder, the only cause known is an
increasing age at which the mother becomes pregnant. Signs and
symptoms of Edwards disorder include abnormalities suchas mental
retardation, abnormalities of the jaw, facial bones and neck, clenched fists
with overlapping fingers, small fingernails, a short sternum, clubbed feet,
heart defects, and kidney defects. 5% of babies born with trisomy 18 die
within the first week, 10% die within the first year.

TRISOMY 18

TRISOMY 21
Trisomy 21, also known as downs
syndrome, is found in 1 out of 6,000
live births nationwide/annually.
Symptoms include include a
flattened face, almond shaped eyes,
short neck, little ears, a tongue that
sticks out of the mouth, white spots
in the iris of the eye, small
hands/feet, poor muscle tone and
loose joints, and are shorter in
height than a person with no
chromosomal disorders.

TANGIBLE PRODUCT
For my final project product, I will be
making a trifold board displaying
each of the three trimesters and how
each of the three chromosomal
disorders that I will be researching
progress as time passes throughout
the pregnancy. My trifold board will
also include different types of testing
for diagnosis of these disorders.

THANKS YOUS
Id like to thank my mentor Curtis Svoboda for taking time out of his busy
schedule to invest in me and explain things to help me understand. Id like
to thank Mrs. Click for accepting me into this program and sponsoring ISM
and guiding all of us through this experience, and lastly Id like to thank my
parents for supporting me and helping me with anything I need on my
projects or coursework.

 Works cited
http://www.medlibes.com/entry/downs-syndrome
http://
www.dailymail.co.uk/news/article-2100542/Rick-Santoru
m-helped-save-child-disorder-daughter-diagnosing-slee
p-apnea.html
http://
isbscienceg9.blogspot.com/2014/10/trisomy-18-i-was-a
sked-to-do-some.html
http://1.bp.blogspot.com/-Xxr6Y-WVIs/T1NC_5FUmBI/AAAAAAAAAE0/3D5fxvgmUGo/
s320/patau+1.jpg
https://
s3.amazonaws.com/classconnection/516/flashcards/57
83516/png/trisomy-13-pictures-149B461036449F0A1B5.
png
https://ghr.nlm.nih.gov/condition/trisomy-13#statistics
http://www.cdc.gov/ncbddd/birthdefects/DownSyndrome
.html
http://www.medicinenet.com/trisomy_18_edwards_syndr
ome/article.htm