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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 1.

Frequencies of recurrent deletions

Deleted Region Syndrome/Phenotype Approximate Minimum Coordinates (NCBI36) Number of Cases Frequency in 15,749 cases
22q11.2 22q11.2 deletion syndrome40 (1.5 & 3 Mb) chr22:17,400,436-18,676,130 93 1 in 169
16p11.2 Autism30 chr16:29,557,497-30,107,356 67 1 in 235
1q21.1 ID, microcephaly, cardiac and cataracts12,13 chr1:145,044,110-145,861,130 55 1 in 286
15q13.2-q13.3 BP4-BP5 ID and epilepsy25 chr15:28,924,396-30,232,700 46 1 in 342
15q11.2-q13 BP2-BP3 Prader-Willi/Angelman syndrome22 (BP1/2-3) chr15:21,309,483-26,230,781 41 1 in 384
7q11.23 Williams syndrome18 chr7:72,382,390-73,780,449 34 1 in 463
16p13.11 Autism, ID and schizophrenia27,28 (1.5 & 3 Mb) chr16:15,411,955-16,199,769 22 1 in 716
17q21.31 17q21 deletion syndrome37,38 chr17:41,060,948-41,650,183 22 1 in 716
17q12 Renal cysts, diabetes, autism and schizophrenia34–36 chr17:31,930,169-33,323,031 18 1 in 875
1q21 Thrombocytopenia-absent radius (TAR) syndrome10 chr1:144,097,430-144,463,097 17 1 in 926
17p11.2 Smith-Magenis syndrome32 chr17:16,723,271-20,234,630 16 1 in 984
8p23.1 8p23.1 deletion syndrome20 chr8:8,156,705-11,803,128 10 1 in 1,575
3q29 3q29 deletion syndrome14,15 chr3:197,240,451-198,829,062 9 1 in 1,750
5q35 Sotos syndrome16 chr5:175,661,584-176,946,567 8 1 in 1,969

The frequencies may be underestimated, since clinically recognizable recurrent deletion syndromes could be tested using FISH studies, rather than aCGH