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Costain G, McDonald-McGinn DM, Bassett AS. Prenatal genetic testing with chromosomal microarray analysis identifies major risk variants for schizophrenia and other later-onset disorders. Am J Psychiatry. 2013 Dec 1 ; 170(12):1498. Pubmed Abstract

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Primary Papers: Prenatal genetic testing with chromosomal microarray analysis identifies major risk variants for schizophrenia and other later-onset disorders.

Comment by:  John McGrath, SRF Advisor
Submitted 13 December 2013
Posted 18 December 2013
  I recommend this paper

Some startling findings from this study of genomewide chromosomal microarray analysis in 3,822 karyotypically normal pregnancies. The 22q11.2 deletion was found in one in every 347 prenatal samples (including one in every 1,022 samples with no anomaly on ultrasonography).Overall, most of these putative schizophrenia-associated risk variants were de novo mutations.

It will be interesting to explore what proportion of the de novo mutations were of paternal origin. Could environmental exposures (as yet undefined) in the father influence the rate of these de novo mutations?

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