Studies

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on Studies

Figure 17-9 The different types of mosaicism that may be detected by prenatal diagnosis. A, Generalized mosaicism affecting both the fetus and placenta. B, Confined placental mosaicism with normal (red) and abnormal…

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References

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on References

General References Buckingham L. Molecular diagnostics: fundamentals, methods and clinical applications. ed 2. F.A. Davis and Co: Philadelphia; 2011. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling….

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and Genome-Based Diagnostics

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on and Genome-Based Diagnostics

Molecular and Genome-Based Diagnostics Advances over the past few years in mutation detection have provided major improvements in risk assessment, carrier detection, and prenatal diagnosis, in many cases allowing determination…

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History in Risk Assessment

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on History in Risk Assessment

Family History in Risk Assessment Family history is clearly of great importance in diagnosis and risk assessment. Applying the known rules of mendelian inheritance, as introduced in Chapter 7, allows…

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Problems

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on Problems

Problems   1. A patient with retinoblastoma has a single tumor in one eye; the other eye is free of tumors. What steps would you take to try to determine…

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References

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on References

Specific References Chen P-S, Su J-L, Hung M-C. Dysregulation of microRNAs in cancer. J Biomed Sci. 2012;19:90. Chin L, Anderson JN, Futreal PA. Cancer genomics, from discovery science to personalized…

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References

Nov 27, 2016 by in GENERAL & FAMILY MEDICINE Comments Off on References

General References Garraway LA, Lander ES. Lessons from the cancer genome. Cell. 2013;153:17–37. International Agency for Research on Cancer (IARC), World Health Organization.  www.cruk.org/cancerstats; 2014. Schneider L. Counseling about cancer….

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