Genotyping Severe Developmental Delay

Developmental delay is associated with a microdeletion at chromosome 16p, especially in the presence of a second copy-number variation.

Copy-number variations (CNVs) at chromosome 16p have been found to occur more frequently in probands with schizophrenia or autism than in controls (e.g., Trends Genet 2009; 25:536; and JW Psychiatry Mar 17 2008). However, these CNVs also occur in healthy individuals. To examine whether a second CNV is necessary for clinical manifestations, researchers genotyped 16p12.1 in two case-control cohorts (discovery and replication samples) involving 21,127 probands with severe cognitive developmental delays and 14,839 controls. For probands with the microdeletion, the researchers counted second CNVs and genotyped the parents of 23.

Findings were similar in the discovery and replication samples. Significantly more probands had a 16p12.1 microdeletion…

Reviewing Author

Barbara Geller, MD

Disclosures

Nothing to disclose

Barbara Geller, MD

Disclosures

Nothing to disclose