Abstract
The minimal amount known regarding chromosomal microduplications and microdeletions presents a fascinating new direction of research into better understanding misunderstood symptoms and overall genomic influence. Specifically, the 16p11.2 microduplication has been associated with a myriad of possible cognitive, physical, and emotional symptoms. The purpose of this study is to inform the reader of the biological basis of the 16p11.2 microduplication, review sources that suggest a link between the microduplication and clinically relevant diagnoses/sources of impairment, and to better understand the implications and development of symptoms through the illustration of a case example. The case study involves an adolescent African-American female that possesses the 16p11.2 microduplication and focuses on the patient's intellectual and developmental delays, seen through self-report and analysis of her neurocognitive assessment results. Additionally, the patient's associated health complications, such as the development of seizures and a possibly compromised immune system, along with the development of anxiety and depression, are discussed. Implications toward the need for more robust protocol in testing and tracking the effects of thi...Continue Reading
References
Aug 10, 2002·Science·Jeffrey A BaileyEvan E Eichler
Apr 19, 2003·Genome Biology·Joseph CheungStephen W Scherer
Apr 4, 2009·Autism Research : Official Journal of the International Society for Autism Research·Luke HeuerJudy Van de Water
May 6, 2009·Archives of General Psychiatry·Aaron L GoldmanAndreas Meyer-Lindenberg
Sep 17, 2009·Journal of Medical Genetics·Bridget A FernandezStephen W Scherer
Oct 27, 2009·Nature Genetics·Shane E McCarthyJonathan Sebat
Nov 17, 2009·Journal of Medical Genetics·Marwan ShinawiJames R Lupski
Mar 1, 2010·Journal of Neurodevelopmental Disorders·Jill A RosenfeldBlake C Ballif
Jan 12, 2012·European Journal of Human Genetics : EJHG·Anne-Claude TabetCatalina Betancur
Jan 28, 2012·Biological Psychiatry·Lars M RimolAnders M Dale
Mar 21, 2013·Schizophrenia Research·Xuebin ZhengJianjun Liu
Apr 30, 2014·Annual Review of Genomics and Human Genetics·Corey T WatsonHeather C Mefford
Jun 4, 2014·American Journal of Medical Genetics. Part a·Isabel FilgesMarwan Shinawi
Aug 22, 2014·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Abid Y QureshiUNKNOWN Simons VIP Consortium
Oct 15, 2014·Schizophrenia Research·Giovanni GiaroliAndrew McQuillin
Nov 26, 2014·Molecular Psychiatry·A M MaillardUNKNOWN 16p11.2 European Consortium
Dec 3, 2015·JAMA Psychiatry·Debra D'AngeloUNKNOWN Simons Variation in Individuals Project (VIP) Consortium