Other recurrent deletions detected with a high frequency in the abnormal cohort include those in 1q21.1 (MIM 612474; OR=11.82; p=5.38E-09), 15q13 (MIM 612001; OR=∞; p=1.44E-10) and 15q11-q13 [breakpoint (BP) 1/2-3 of the Prader-Willi (MIM 176270)/Angelman (MIM 105830) syndromes region; OR=∞; p=2.77E-09]. We also identified 18 deletions involving the 17q12 region (MIM 137920); these deletions were initially reported to have no neurocognitive phenotype.34 More recent studies, however, have shown an association between 17q12 deletions and developmental delays35 and autism/schizophrenia.36 The absence of the 17q12 deletion in 10,118 controls is strong evidence for classifying this deletion as pathogenic (p=0.00015).
