molecular diagnostic

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Health Medical

molecular diagnostic

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How to read exome, and write one paper interprtation, i upload two file one is the question and the other is example

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- 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.
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