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. Author manuscript; available in PMC: 2013 Jul 17.
Published in final edited form as: Genet Med. 2012 Jun 21;14(10):868–876. doi: 10.1038/gim.2012.65

Table 2.

Summary of array-CGH results in patients with 9q34.11 deletions

Patient Sex Deletion size (mb) Refseq genes involveda Genomic location (GRch37/hg19)
P1 Female 2.878 STXBP1 (exons 16–20), ENG, SPTAN1, TOR1A
and 72 others		 chr9:130439828–133320690
P2 Female 1.765 STXBP1, ENG, SPTAN1, and 60 others chr9:130281799–132208337
P3 Male 2.649 STXBP1, ENG, SPTAN1, and 58 others chr9:129473714–131633299
P4 Male 0.251 STXBP1 and 10 others chr9:130291275–130554161 b
P5 Female 0.067 STXBP1 (exons 1–4) chr9:130353624–130421329 b
P6 Female 1.619 SPTAN1, TOR1A, and 44 others chr9:130956099–132603590 b
P7 Male 1.967 TOR1A and 35 others chr9:131406317–133482292
P8 Male 2.349 TOR1A and 23 others chr9:131472698–133975666
P9 Male 0.713 SPTAN1 and 40 others chr9:131103396–131850003
P10 Male 0.808 STXBP1, ENG, and 23 others chr9:129843508–130681956b
a

For a complete list of RefSeq genes involved in each patient’s deletion, see Supplementary Table S2 online.

b

Exact coordinates confirmed by Sanger sequencing (see Supplementary Figure S1 online).