Fig. 4. Family pedigrees of probands with 16p12.1 microdeletion.

Large CNVs, outside of 16p12.1 region, in a representative set of individuals with 16p12.1 microdeletions are shown (a-d). The CNV regions are indicated by dotted lines and the cytogenetic extent and size are labeled. We utilized a 135K NimbleGen array to identify these CNVs (with average probe density of 2.5 kbp in regions flanked by segmental duplications and a genomic backbone of 35 kbp). CNV calls were made using a Hidden Markov Model CNV-calling algorithm described previously ¹⁵. Also shown are the pedigrees of individuals with 16p12.1 microdeletion with known available parental information (e). Circles indicate females and squares indicate males. Intellectual disability and congenital malformation category also includes congenital heart defects and seizures. Psychiatric illness includes depression or bipolar disorder, attention deficit hyperactive disorder, and abnormal behaviors. Note that there is an excess of transmitting parents with the microdeletion who also manifested with a phenotype. NT = not tested.