Table 1 Summary of LCSH, associated clinical findings, and imprinted genes
Case # | Chromosomal region | Age | Clinical features | Size, kb | Genes (imprinted) |
|---|---|---|---|---|---|
1 | 7q21.3 | 5 years | Developmental delay, autistic behavior, hyperactivity | 1098 | SGCE, PEG10 PPP1R9A |
2 | 7q21.3 | 11 years | Intellectual disability, developmental delay | 1062 | SGCE, PEG10, PPP1R9A, TFPI2 |
3 | 7q31.33q32.3 | 2 years | Intellectual disability, developmental delay, microcephaly, seizures, facial dysmorphisms, muscular hypotonia | 4257 | KLF14, MEST, COPG2, MESTIT1, CPA4 |
4 | 7q32.1q32.2 | 2 years 7 months | Intellectual disability, developmental delay, microcephaly, seizures, facial dysmorphisms | 1089 | CPA4 |
5 | 7q32.2 | 3 years | Intellectual disability, developmental delay, facial dysmorphisms | 1033 | CPA4, MESTIT1, MEST, COPG2 |
6 | 7q32.2 | 15 years | Intellectual disability, developmental delay, congenital heart defect | 1020 | KLF14, MEST, COPG2, MESTIT1, CPA4 |
7 | 11р15.5р15.4 | 5 years | Intellectual disability, autistic behavior, microcephaly, seizures, facial dysmorphisms, somatic overgrowth | 1360 | CDKN1C, KCNQ1DN, KCNQ1, SLC22A18AS, SLC22A18, PHLDA2, NAP1L4, OSBPL5, |
8 | 11р15.5р15.4 | 10 years | Developmental delay, autistic behavior, facial dysmorphisms, somatic overgrowth | 1147 | IGF2, H19, CDKN1C, KCNQ1DN, KCNQ1, SLC22A18, PHLDA2, NAP1L4, OSBPL5, IGF2AS, INS, TH, ASCL2, TSPAN32, CD81, TSSC4, TRPM5, KCNQ1OT1, SLC22A18AS |
9 | 11p15.5p15.4 | 4 years | Intellectual disability, developmental delay, macrocephaly, feeding difficulty, umbilical hernia, hepatomegaly, undescended testis, facial dysmorphisms, short neck | 1554 | CDKN1C, KCNQ1, KCNQ1OT1, ASCL, TSPAN32, CD81, TSSC4, TRPM5, SLC22A18AS, SLC22A18, PHLDA2 NAP1L4, OSBPL5 |
10 | 15q11.2 | 2 years 10 months | Intellectual disability, developmental delay, feeding difficulty, facial dysmorphisms | 1068 | NPAP1, SNRPN |
11 | 15q11.2 | 4 years | Intellectual disability, developmental delay, hyperactivity, facial dysmorphisms, seizures | 1158 | SNRPN, PAR1, IPW, PAR5, |
12 | 15q11.2 | 5 years | Developmental delay, autistic behavior, seizures, facial dysmorphisms | 1002 | NPAP1, SNRPN |
13 | 15q11.2 | 5 years | Developmental delay, autistic behavior, fetal cerebral ventriculomegaly, facial dysmorphisms | 1067 | NPAP1 |
14 | 15q11.2 | 18 years | Intellectual disability, personality disorder | 1224 | NPAP1, SNRPN, SNURF, SNORD107, SNORD108, SNORD109B, SNORD109A UBE3A |