Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Table 2 Microdeletions and microduplications of 16p11.2 identified by our laboratory

	Total individuals	Individuals referred for ASD^a	Individuals not referred for ASD^b	p-value^c
Number	9773	820	8953
16p11.2 microdeletion	45 (0.46%)	6 (0.73%)	39 (0.44%)	0.271
de novo	17	2	15
maternally inherited	5	0	5
paternally inherited	0	0	0
unknown (parents not tested)	23	4	19
16p11.2 microduplication	32 (0.33%)	3 (0.37%)	29 (0.32%)	0.748
de novo	5	1	4
maternally inherited	9	0	9
paternally inherited	5	0	5
unknown (parents not tested)	13	2	11
Total 16p11.2 abnormalities	77 (0.78%)	9 (1.1%)	68 (0.76%)	0.298

^aIndividuals referred for autism, autistic features, PDD, or Asperger syndrome
^bAll other individuals not listing an ASD as an indication for study; this does not rigorously exclude individuals with ASD
^cA comparison of frequencies in the ASD and non-ASD groups, using Fisher’s exact test, two-tailed.

ISSN: 1866-1955