By Edited, Diane C. Seibert, Quannetta T. Edwards, Ann H. Maradiegue, Susan T. Tinley
The aim of this booklet is to enhance the genomic competency of nurses ready on the graduate point. The extra expert graduate point nurses are in regards to the speedily evolving box of genomics, the much more likely they're to use it on the element of care, and the extra ready they are going to be to interact in conversations approximately how, while and the place genomic applied sciences could be utilized in healthcare systems.
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Additional resources for Genomic essentials for graduate level nurses
New Clinical Genetics, 2nd ed. Banbury, UK: Scion Publishing. , . . Wolkenstein, P. (2009). Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Human Molecular Genetics, 18(15), 2768–2778. , . . Savage, D. B. (2011). Mitochondrial dysfunction in patients with primary congenital insulin resistance. Journal of Clinical Investigation, 121, 2457–2461. Smith, F. J. , & McLean, W. H. (2011). Genodermatoses: inherited diseases of the Sskin. In M. J. ), Molecular diagnostics in dermatology and dermatopathology (pp.
Because there is normally only one active copy of an imprinted gene, if the normally active allele is accidently deleted as in uniparental disomy, no normal gene product will be produced. Uniparental disomy usually occurs during meiosis or embryogenesis, and two copies of a particular chromosome are inherited from one parent but no copy of that chromosome from the other parent is present. The child has 2 copies of each chromosome and has a total of 46 chromosomes and a normal appearing karyotype.
2. INTRODUCTION This chapter focuses on the important role that advanced practice nurses (APRNs) play in applying genomic information in healthcare throughout the life span. Specifically, the chapter focuses on the elements of risk assessment including (1) data collection, (2) identification of red flags, (3) probability of risk, (4) assessment of the data for risk communication, and (5) assessment of the data for risk management in order to identify genomic diseases. The components of the personal and family history are provided as one major component of the data collection process.