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Table 1 Alleles of STR markers studied in Patient 1 and father and Patient 2 and relatives.

From: A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

  Position Patient 1 Father 1 Patient 2 Mother 2 Father 2 Maternal aunt 2a Maternal aunt 2b Maternal uncle 2 Maternal grandfather 2
CATCH 10 191,164,96 120 122 NA 120 122 122 120 122 122 122 122 122
CATCH 20 19,245,111 160 160 NA 160 160 162 160 160 160 160
PCQAP* 19,266,745 N N N N N N N N N
LCR-C** 19,354,000–19,417,000          
CATCH 42 19,449,222 99 93 99 93 97 101 93 99 101 97 99 93 99 101 93 99 101 93 99 101 93 101
CATCH 41 19,450,208 NA 169 173 169 173 169 173 173 177 169 173 169 173 169 173 169 173
CATCH 11 19,469,542 197 195 197 195 199 191 195 199 195 199 191 195 199 191 195 199 191 195 199 195 199
D22S311 19,503,575 251 249 255 251 253 249 253 251 249 253 249 253 249 253 249 253
CATCH 12 19,566,292 116 116 116 116 116 116 116 116 116
CATCH 13 19,567,154 143 138 143 138 143 138 143 143 138 143 138 143 138 143 138 143
SNAP29* 19,572,014 del N dup dup N dup dup dup dup
CATCH 14 19,595,454 212 212 215 200 216 227 208 216 227 200 210 208 216 227 208 216 227 208 216 227 216 220 227
CATCH 39 19,640,114 106 106 110 94 102 110 94 102 106 106 110 94 102 106 94 102 106 94 102 106 94 102
LZTR1* 19,679,191 del N dup dup N dup dup dup dup
D22S1709 19,735,440 120 128 126 128 132 126 128 132 128 132 126 128 132 126 128 132 126 128 132 126 132
CATCH 38 19,745,025 157 159 159 159 155 159 159 159 159 159 163
CATCH 37 19,759,833 NA 226 234 230 245 230 245 230 245 230 245 230 245 230 245 230 245
LCR-D** 19,777,000          
LCRD 06317-L10754* 19,779,435 del N dup dup N dup dup dup dup
CATCH 36 20,126,412 109 109 109 109 109 109 109 109 109
HIC2* 20,130,631 del N N N N N N N N
LCR-D** 20,242,000          
LCRD 06321-L05796* 20,247,101 del N N N N N N N N
CATCH 35 20,341,833 136 136 150 136 150 136 143 143 150 136 143 136 143 136 143 136 143
D22S446bis 20,343,665 157 157 185 157 180 157 161 165 180 157 161 157 161 157 161 157 161
PPIL2* 20,379,687 N N N N N N N N N
D22S306 20,887,523 106 106 NA NA NA 106 106 106 106
D22S303 21,599,366 212 222 212 222 NA NA NA 212 222 212 222 212 222 212
  1. Alleles are expressed in fragment bp. STR markers are located according to the NCBI Build 36.1, together with the MLPA probes (*) and the LCRs (**). The shortest informative deletion and duplication segments by MLPA and STRs are D22S311-LCRD 06321-L05796 and CATCH 42-LCRD 06317-L10754, respectively. Bold text indicates haploinsufficiency or trisomy, two alleles listed in bold mean that homozygosity is suspected in one of them, so there are really three alleles. Regular text indicates biallelism. Italic indicates non informative results. del: deletion; dup: duplication; N: normal; NA: not available.