Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practice

Author:

Paul Jean LillianORCID,Pope-Couston Rachel,Wake Samantha,Burgess Trent,Tan Tiong Yang

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. Miller DT, Adam MP, Aradhya S et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749–764.

2. George A, Marquis-Nicholson R, Zhang LT et al: Chromosome microarray analysis in a clinical environment: new perspective and new challenge. Br j biomed sci 2011; 68: 100–108.

3. Bruno DL, Beddow R, Caramins M et al: Interpreting clinical microarray genomic data in 2012: what have we learnt and what challenges remain? Curr Top Genet 2013; 5: 67–79.

4. Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CAL et al: Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances. Eur J Hum Genet 2009; 52: 108–115.

5. Chaste P, Sanders SJ, Mohan KN et al: Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res 2014; 7: 355–362.

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