Expert answer:molecular diagnostic

  

Solved by verified expert:Interpretation of the result and write one page report. it in molecular diagnostic course., the first file is the answer and the second one is an example
student_exome_project_1___1_.pptx

example.pdf

Don't use plagiarized sources. Get Your Custom Essay on
Expert answer:molecular diagnostic
Just from $10/Page
Order Essay

Unformatted Attachment Preview


Final course assignment Part 3 of 3
Patient: 11-year old male who presented with a bone lesion that was determined to be an osteosarcoma.
During the visit, two skin basal cell carcinoma lesions were removed from his abdomen.
He had a malformed right fore-arm bones and thumb, fused vertebrae, and what appeared to be mild
osteoporosis
His mother said that he developed redness on his cheeks at 4 months old but they thought it would go
away.
When he was 3, he developed a rash on his extremities, appearing as patchy skin discoloration and had
chronic diarrhea and vomiting during most of his infancy
His mom said that he usually had thin appearing skin that showed blood vessels
He never really had much hair, and at 11-years old, he decided to shave his head
Overall, his stature was always small
His teeth and nails also seems malformed
His family moved to the United States when he was 10-years old, at which time his vision was poor and
was attributed to cataracts that were beginning to form.
– A trio exome test was performed with the following results.
– Evaluate the trio exome results and write a one-page report based on the clinically relevant information.
1 hemizygous variant identified on Chr X • CHRDL1
Proband
Paternal
Maternal
• p.R225H
c.674C>T
Our variant: p.R225H

Final course assignment Part 3 of 3
Patient: 11-year old male who presented with a bone lesion that was determined to be an osteosarcoma.
During the visit, two skin basal cell carcinoma lesions were removed from his abdomen.
He had a malformed right fore-arm bones and thumb, fused vertebrae, and what appeared to be mild
osteoporosis
His mother said that he developed redness on his cheeks at 4 months old but they thought it would go
away.
When he was 3, he developed a rash on his extremities, appearing as patchy skin discoloration and had
chronic diarrhea and vomiting during most of his infancy
His mom said that he usually had thin appearing skin that showed blood vessels
He never really had much hair, and at 11-years old, he decided to shave his head
Overall, his stature was always small
His teeth and nails also seems malformed
His family moved to the United States when he was 10-years old, at which time his vision was poor and
was attributed to cataracts that were beginning to form.
– A trio exome test was performed with the following results.
– Evaluate the trio exome results and write a one-page report based on the clinically relevant information.
Final Course Assignment: Part 3 of 3
Valued at 70 of 150 points
will provide information on a trio exome case with NGS results in the next
owerPoint presentation following this one in Bb.
ou will write a one-page report describing the clinical features of the patient
ased on the results of the NGS testing.
hen I present the information for the assigned case, I will give specific
structions about what you are required to address your graded response.
owever, at this time, I will present the information mentioned on the previous
de, starting with the tumor/cancer case.
he final course project is a trio and does NOT include a cancer NGS case.
1: Cancer/tumor NGS case
year old male
t brain mass
aplastic, malignant meningioma
mple: Tumor and peripheral blood
Meningioma genetics known prior to 2013
Genome wide copy number profile for normal tissue
Genome wide copy number profile for tumor
Copy number profile for chromosome 9
Integrated Genome Viewer (IGV) – small intragenic deletion within NF2
10-bp de
153 reads containing deletion
22 wild-type reads
= mutant allele frequency (MAF) of 82%
Case 1: Summary of NGS results
aplastic meningoima w/ inactivating frameshift mutation in the NF2 TSG that is present in t
mizygous state due to loss of chromosome 22 containing the remaining wildtype allele.
omozygous deletion of CDKN2A/B TSGs at 9p21.
F2 inactivation is typical of meningomas.
rameshift mutation in the SUFU gene is hemizygous due to loss of chromosome 10, which
ntains the remaining wildtype allele.
e SUFU gene, a regulator of the Hedgehog signaling pathway, is implicated in familial
eningoima.
addition to the focal homozygous deletion of CDKN2A/B at 9p, many chromosomal copy n
anges are present, including a gain of 20q and losses of 1p, 3, 6q, 9p, 10, 14q interstitial 1
d 22. Many of these changes have been associated with meningoimas.

Purchase answer to see full
attachment

Place your order
(550 words)

Approximate price: $22

Calculate the price of your order

550 words
We'll send you the first draft for approval by September 11, 2018 at 10:52 AM
Total price:
$26
The price is based on these factors:
Academic level
Number of pages
Urgency
Basic features
  • Free title page and bibliography
  • Unlimited revisions
  • Plagiarism-free guarantee
  • Money-back guarantee
  • 24/7 support
On-demand options
  • Writer’s samples
  • Part-by-part delivery
  • Overnight delivery
  • Copies of used sources
  • Expert Proofreading
Paper format
  • 275 words per page
  • 12 pt Arial/Times New Roman
  • Double line spacing
  • Any citation style (APA, MLA, Chicago/Turabian, Harvard)

Our guarantees

Delivering a high-quality product at a reasonable price is not enough anymore.
That’s why we have developed 5 beneficial guarantees that will make your experience with our service enjoyable, easy, and safe.

Money-back guarantee

You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.

Read more

Zero-plagiarism guarantee

Each paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.

Read more

Free-revision policy

Thanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.

Read more

Privacy policy

Your email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.

Read more

Fair-cooperation guarantee

By sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.

Read more

Order your essay today and save 30% with the discount code ESSAYSHELP