Table 1 Results of polymorphic marker analysis.
Marker | Position (ISCN 2005) | Location (Mb, NCBI) | Genotypes/allele values | Parental origin | ||
---|---|---|---|---|---|---|
Father | Proband | Mother | ||||
D5S1981 | 5p15.33 | 1.2 | 257 | 257/263 | 263 | pat dup |
D5S406 | 5p15.32 | 5 | 173 | 173 | 165/173 | NI |
D5S630 | 5p15.31 | 9.6 | 238 | 238/244 | 244 | pat dup |
D5S1991 | 5p15.2 | 15 | 223/229 | 223/225 | 225/229 | pat dup |
D5S618 | 5q14.3 | 89 | 168/178 | 168/172 | 172 | |
D5S671 | 5q34 | 163 | 201 | 201 | 201 | NI |
D5S2073 | 5q35 | 195 | 240 | 240 | 240 | NI |
D9S129 | 9p24.3 | 1.85 | 131 | 129 | 129 | pat del |
D9S178 | 9p24.2 | 4 | 89 | 89 | 89 | NI |
D9S269 | 9p23 | 11 | 168/174 | 168 | 168 | NI |
D9S285 | 9p22.3 | 15 | 118/120 | 122 | 120/122 | pat del |
D9S1846 | 9p21.3 | 21.6 | 182/188 | 182/186 | 186 | pat dup |
D9S974 | 9p21.3 | 21.9 | 208/210 | 204/210 | 204 | pat dup |
D9S942 | 9p21.3 | 21.9 | 112/118 | 102/112 | 102 | pat dup |
D9S1748 | 9p21.3 | 21.9 | 106/116 | 110/116 | 110/112 | pat dup |
D9S171 | 9p21.3 | 24.5 | 163/169 | 155/169 | 155/163 | pat dup |
D9S165 | 9p13.3 | 33 | 210/212 | 212/216 | 210/216 | pat dup |
D9S970 | 9p13.1 | 39 | 137/141 | 137/141 | 137 | pat dup |
D9S197 | 9q22 | 66 | 200 | 200 | 200 | NI |
D9S127 | 9q31 | 77 | 152/154 | 154/156 | 154/156 | |
D9S1199 | 9q34 | 134.8 | 89/93 | 93/99 | 93/99 | |
D9S1793 | 9q34 | 135.4 | 175/185 | 177/185 | 169/177 | |
D9S66 | 9q34 | 135.7 | 119/129 | 119/129 | 119/129 | NI |
D9S1818 | 9q34 | 136.3 | 154 | 148/154 | 148 | NI |
D9S312 | 9q34 | 137.1 | 121 | 117/121 | 117 | NI |
D9S1826 | 9q34 | 137.6 | 129/133 | 131/133 | 131 | |
D9S158 | 9q34 | 138.3 | 216/218 | 216/218 | 214/216 | |
D9S1838 | 9q34 | 139.8 | 167 | 161/167 | 161 | NI |
ISCN, International System for Human Cytogenetic Nomenclature; NCBI, National Center for Biotechnology Information; pat dup, paternal duplication (interpretation based on the dosage analysis); pat del, paternal deletion; NI, non informative.