Table 3.
List of ≈ 500 kb duplication region overlapping our duplications (Database of Genomic Variants (DGV) and Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (Decipher), www.deciphergenomics.org) – cases associated with short stature are highlighted
| No | Decipher patient number | Duplication length | Location GRCh37/hg19 | Overlap with patient 1 | Overlap with patient 2 | Patogenicity | Inheritance | Reported phenotype |
|---|---|---|---|---|---|---|---|---|
| 1 | 501685 | 578 kb | chrX:430431-1008430 | 165.8 kb | 281.3 kb | likely pathogenic | unknown | tall stature |
| 2 | 321306 | 575.6 kb | chrX:444444-1020083 | 165.8 kb | 281.3 kb | unspecified | unknown | proportionate short stature |
| 3 | 327886 | 575.6 kb | chrX:444444-1020083 | 165.8 kb | 281.3 kb | unspecified | maternally | neurodevelopmental delay |
| 4 | 472564 | 417.9 kb | chrX:458034-875989 | 78.2 kb | 186.8 kb | pathogenic | unknown | |
| 5 | 278988 | 537.1 kb | chrX:481940-1019080 | 165.8 kb | 281.3 kb | unspecified | unknown | intellectual disability, moderate. macrocephaly |
| 6 | 378974 | 537.1 kb | chrX:481940-1019080 | 165.8 kb | 281.3 kb | uncertain | unknown | cognitive impairment |
| 7 | 279033 | 327.9 kb | chrX:481940-809860 | 12.1 kb | 120.6 kb | unspecified | unknown | intellectual disability, moderate |
| 8 | 367150 | 327.9 kb | chrX:481940-809860 | 12.1 kb | 120.6 kb | uncertain | unknown | cognitive impairment, generalized hypotonia. poor coordination. tall stature |
| 9 | 307967 | 488.8 kb | chrX:481940-970747 | 165.8 kb | 281.3 kb | pathogenic | unknown | short stature, obesity |
| 10 | 292734 | 516.2 kb | chrX:481940-998152 | 165.8 kb | 281.3 kb | uncertain | maternally | microtia |
| 11 | 501321 | 587.7 kb | chrX:505654-1232802 | 165.8 kb | 281.3 kb | pathogenic | unknown | short stature |
| 12 | 253249 | 407.3 kb | chrX:510558-917875 | 120.1 kb | 228.6 kb | unspecified | inherited from normal parent | intellectual disability |
| 13 | 472225 | 314.1 kb | chrX:515011-829150 | 31.4 kb | 139.9 kb | pathogenic | unknown | |
| 14 | 398712 | 582.72 kb | chrX:535224-1257358 | 165.8 kb | 281.3 kb | uncertain | unknown | brachydactyly, short stature |
| 15 | 262464 | 290.5 kb | chrX:545753-836276 | 38.5 kb | 147 kb | unspecified | inherited from normal parent | intellectual disability |
| 16 | 488457 | 357.6 kb | chrX:592753-950433 | 152.7 kb | 261.2 kb | pathogenic | unknown | short stature |
| 17 | 327474 | 213.4 kb | chrX:605776-819243 | 21.5 kb | 130 kb | likely pathogenic | unknown | Madelung deformity |
| 18 | 504301 | 507.6 kb | chrX:607140-1254176 | 165.8 kb | 281.3 kb | uncertain | unknown | hypotonia, persistent head lag |
| 19 | 421367 | 436.9 kb | chrX:610580-1186938 | 165.8 kb | 281.3 kb | uncertain | unknown | intellectual disability |
| 20 | 284012 | 271.3 kb | chrX:679520-950907 | 153.1 kb | 261.7 kb | unspecified | unknown | short stature |
| 21 | 476460 | 136.7 kb | chrX:714838-851541 | 53.8 kb | 162.3 kb | uncertain | unknown | |
| 22 | 501096 | 106.8 kb | chrX:715197-822052 | 26.3 kb | 106.8 kb | likely pathogenic | unknown | short stature |
| 23 | 363319 | 40 kb | chrX:782028-822052 | 24.3 kb | 142.8 kb | pathogenic | unknown | mild short stature |
| 24 | 501125 | 36.7 kb | chrX:782334-819108 | 21.3 kb | 36.7 kb | likely pathogenic | unknown | short stature |
| 25 | 501180 | 36.7 kb | chrX:782334-819108 | 21.3 kb | 36.7 kb | likely pathogenic | maternally | short stature |
| 26 | 501325 | 36.7 kb | chrX:782334-819108 | 21.3 kb | 36.7 kb | likely pathogenic | unknown | short stature |
| 27 | 501827 | 36.7 kb | chrX:782334-819108 | 21.3 kb | 36.7 kb | likely pathogenic | unknown | |
| 28 | 500817 | 39.7 kb | chrX:782334-822052 | 24.3 kb | 36.7 kb | likely pathogenic | paternally | short stature |
| 29 | 294915 | 391 kb | chrX:428.231-819.243 | 23.5 kb | 130 kb | likely pathogenic | paternally | ventriculomegaly |
| 30 | 501831 | 516.3 kb | chrX:492.059-1.008.430 | 165.8 kb | 281.3 kb | likely pathogenic | unknown | craniosynostosis |
| 31 | 292606 | 302.1 kb | chrX:517.114-819.243 | 23.5 kb | 130 kb | likely pathogenic | maternally | intrauterine growth retardation, macrocephaly |
| 32 | 433135 | 346.6 kb | chrX:561527-908212 | 112.4 kb | 219 kb | uncertain | maternally | intellectual disability, mild |
| 33 | 385376 | 365.6 kb | chrX:579005-944608 | 148.8 kb | 255.4 kb | uncertain | unknown | |
| 34 | 288720 | 225.5 kb | chrX:652203-877796 | 82 kb | 188.6 kb | likely bening | unknown | intellectual disability |
| 35 | 420946 | 364.2 kb | chrX:660.336-1.024.551 | 165.8 kb | 281.3 kb | likely pathogenic | unknown | microcephaly, proportionate short stature |
| 36 | 255494 | 177.4 kb | chrX:767.642-945.079 | 149.3 kb | 177.4 kb | unspecified | de novo | proportionate short stature |