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Table 5 Informative LCSHs larger than 5 Mb

From: SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

Patient LCSH Array Chr Chr band(s) Coordinates Size (kb) Gene(s) of interest & disorder Confirmed?
Start End
1.1 7 SNP 6.0 8 q21.11 q23.1 74259208 106471063 32 212 VPS13B, Cohen syndrome No. Known polymorphism identified by exon sequencing (c.T9492C, Homozygous C).
2.7 M q21.11 q22.3 74144714 103958979 29 814
Omni1 q21.11 q23.1 74275315 106474543 32 199
CytoSNP q21.11 q23.1 74256250 106477669 32 221
10.4 16 SNP 6.0 11 q14.2 q23.1 86714942 118761985 32 047 DPAGT1, Congenital disorder of glycosylation, type 1j (CDG1J), ALG9, Congenital disorder of glycosylation, type 1 l (CDG1L) Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing.
2.7 M q14.2 q23.1 86640025 112683203 26 043
CytoSNP q14.2 q23.3 86714943 118727916 32 013
11.4 24 SNP 6.0 11 q14.1 q24.2 81709865 124226213 42 516 DPAGT1, Congenital disorder of glycosylation, type 1j (CDG1J), ALG9, Congenital disorder of glycosylation, type 1 l (CDG1L) Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing.
2.7 M q14.1 q23.3 81631409 116681560 35 050
  q23.3 q24.2 118899401 124319838 5 420
Omni1 q21 q22.3 93339399 103743297 10 404
  q22.3 q24.2 106756061 124224315 17 468
CytoSNP q14.1 q24.2 81730470 124222740 42 492
26.9 27 SNP 6.0 2 p21 41858417 46908485 5 050 LRPPRC, Leigh syndrome, French-Canadian type (LSFC) Yes. Homozygous c.C1119T mutation in exon 9, corresponding to the known major p.A354V present in 97.6% of affected LSFC.
2.7 M p21 41794186 46981017 5 187
CytoSNP p21 41850116 46912030 5 062
  1. Chr: chromosome.