Table 5 Informative LCSHs larger than 5Â 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). |
2.7Â 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 1Â l (CDG1L) | Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing. |
2.7Â 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 1Â l (CDG1L) | Yes. Homozygous c.A322G mutation in exon 3 of DPAGT1 identified by exome sequencing. |
2.7Â M | q14.1 q23.3 | 81631409 | 116681560 | 35 050 | |||||
| Â | q23.3 q24.2 | 118899401 | 124319838 | 5 420 | |||||
Omni1 | q21 q22.3 | 93339399 | 103743297 | 10 404 | |||||
| Â | 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. |
2.7Â M | p21 | 41794186 | 46981017 | 5 187 | |||||
CytoSNP | p21 | 41850116 | 46912030 | 5 062 | |||||