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. Author manuscript; available in PMC: 2013 May 23.
Published in final edited form as: Genet Med. 2011 Sep;13(9):777–784. doi: 10.1097/GIM.0b013e31822c79f9

Table 2.

Frequencies of recurrent duplications

Duplicated Region Syndrome/Phenotype Number of Cases Frequency in 15,749 Cases
16p13.11 Variable phenotype27,28 (1.5 & 3 Mb) 45 1 in 350
16p11.2 Autism30 39 1 in 404
15q11.2-q13 BP2-BP3 Autism23,24 (BP1/2-3) 35 1 in 450
22q11.2 Variable phenotype41 (1.5 & 3 Mb) 32 1 in 492
1q21.1 ID and autism12,13 28 1 in 562
17q12 Epilepsy34 21 1 in 750
7q11.23 Autism19 16 1 in 984
17p11.2 Potocki-Lupski syndrome33 15 1 in 1,050
15q13.2-q13.3 BP4-BP5 Psychiatric disease26 14 1 in 1,125
1q21 Reciprocal duplication of TAR region11 9 1 in 1,750
3q29 Variable phenotype15 8 1 in 1,969
8p23.1 Variable phenotype21 6 1 in 2,625
5q35 Short stature, microcephaly and speech delay17 2 1 in 7,875
17q21.31 Behavioral problems39 0 Unknown