 |
 |
- CHROMOSOME #12 -
ABNORMAL
| Cases without
clinical findings |
Similar imbalances
– no sSMC |
| References |
In general 70% of sSMC carriers are clinically normal. The figures listed above
are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!
| UPD (uniparental disomy) cases: | UPD(12)mat | UPD(12)pat | UPD(12)mat or pat |
Pallister-Killian-syndrome (PKS) can now be identified by help of facial diagnostic, supported by computer aid {279}
In {289; 291} the fetal phenotype of PKS is summarized.
| case
no. |
prenatal/
postnatal
|
Reference |
| 12- Wpks- 1 |
postnatal |
{17, 237; 308} mild
phenotype - mosaic |
| 12- Wpks- 1a |
postnatal | {247; 308} |
| 12- Wpks- 2 |
postnatal |
{18} |
| 12- Wpks- 3 |
postnatal |
{19} |
| 12- Wpks- 4 |
postnatal |
{20} here a mosaic of
i(12p) and min(12); - i(12p) of maternal
origin |
| 12- Wpks- 5 |
prenatal |
{188} case 12-Wpks-5 |
| 12- Wpks- 6 |
postnatal |
{163} 1 case |
| 112- Wpks- 7 to 8 |
1 x
prenatal, 1 x postnatal |
{21} - 1 case i(12p) of
paternal origin |
| 12- Wpks- 9 |
postnatal |
{22} |
| 12- Wpks- 10 |
postnatal |
{23} |
| 12- Wpks- 11 |
postnatal |
{24} - i(12p) of paternal
origin |
| 12- Wpks- 12 |
postnatal |
{25} |
| 12- Wpks- 13 |
prenatal |
{26} |
| 12- Wpks- 14 |
postnatal |
{27} |
| 12- Wpks- 15 |
postnatal |
{28} |
| 12- Wpks- 16 |
postnatal |
{29} |
| 12- Wpks- 17 |
prenatal |
{30} |
| 12- Wpks- 18 |
postnatal |
{31} |
| 12- Wpks- 19 |
postnatal |
{32} |
| 12- Wpks- 20 to 22 |
3 x
postnatal |
{33} - 3 cases of i(12p)
of maternal origin |
| 12- Wpks- 23 |
postnatal |
{35} - i(12p) of paternal
origin |
| 12- Wpks- 24 to 42 |
11 x
prenatal; 8 x postnatal |
{36} {37}? - 2 cases
i(12p) of maternal origin, one case of
paternal origin |
| 12- Wpks- 43 |
prenatal |
{38} - i(12p) of maternal
origin |
| 12- Wpks- 44 |
prenatal |
{39} |
| 12- Wpks- 45 to 46 |
2 x prenatal |
{40} |
| 12- Wpks- 47 |
prenatal |
{41} case with two
PKS-chromosomes |
| 12- Wpks- 47a |
postnatal |
{248} case with two PKS-chromosomes |
| 12- Wpks- 48 to 49 |
2 x
postnatal |
{42} |
| 12- Wpks- 50 |
postnatal |
{43} |
| 12- Wpks- 51 |
postnatal |
{44} |
| 12- Wpks- 52 |
prenatal |
{45} |
| 12- Wpks- 53 |
prenatal |
{46} |
| 12- Wpks- 54 |
prenatal |
{47} |
| 12- Wpks- 55 |
postnatal |
{48} |
| 12- Wpks- 56 |
postnatal |
{49} |
| 12- Wpks- 57 |
postnatal |
{50} |
| 12- Wpks- 58 |
postnatal |
{51} |
| 12- Wpks- 59 |
prenatal |
{52} |
| 12- Wpks- 60 |
prenatal |
{53} |
| 12- Wpks- 61 |
postnatal |
{54} |
| 12- Wpks- 62 |
prenatal |
{55} |
| 12- Wpks- 63 |
postnatal |
{56} |
| 12- Wpks- 64 |
prenatal |
{57} |
| 112- Wpks- 65 to 68 |
4 x
postnatal |
{58} |
| 12- Wpks- 69 |
prenatal |
{62} |
| 12- Wpks- 70 |
postnatal |
{63} |
| 12- Wpks- 71 |
postnatal |
{64} |
| 12- Wpks- 72 |
prenatal |
{65} |
| 12- Wpks- 73 |
prenatal |
{66} |
| 12- Wpks- 74 |
postnatal |
{67} |
| 12- Wpks- 75 |
prenatal |
{68} |
| 12- Wpks- 76 |
postnatal |
{69} |
| 12- Wpks- 77 |
postnatal |
{70} |
| 12- Wpks- 78 |
postnatal |
{71} |
| 12- Wpks- 79 |
postnatal |
{72} = case 1 {93} |
| 12- Wpks- 80 |
prenatal |
{73} |
| 12- Wpks- 81 |
postnatal |
{74} |
| 12- Wpks- 82 |
prenatal |
{75} |
| 12- Wpks- 83 |
postnatal |
{76} |
| 12- Wpks- 84 to 85 |
2 x
postnatal |
{77} |
| 12- Wpks- 86 to 87 |
2 x
postnatal |
{78} |
| 12- Wpks- 88 to 89 |
2 x
postnatal |
{79} |
| 12- Wpks- 90 to 92 |
1 x
prenatal; 2 x postnatal |
{80} |
| 12- Wpks- 93 to 99 |
7 x
postnatal |
{81} |
| 12- Wpks- 100 to 106 |
7 x prenatal |
{14} |
| 12- Wpks- 107 |
prenatal |
{82} |
| 12- Wpks- 108 to 111 |
1 x
prenatal; 2 x postnatal |
{83} |
| 12- Wpks- 112 |
postnatal |
{84} |
| 12- Wpks- 113 |
postnatal |
{85} |
| 12- Wpks- 114 to 124 |
11 x
postnatal |
{86}; case 1 = {87} |
| 12- Wpks- 125 |
prenatal |
{88} |
| 12- Wpks- 126 to 127 |
2 x prenatal |
{89} |
| 12- Wpks- 128 to 129 |
2 x prenatal |
{90} |
| 12- Wpks- 130 |
prenatal |
{91} |
| 12- Wpks- 131 |
prenatal |
{92} |
| 12- Wpks- 132 to 135 |
1x prenatal,
3 x postnatal |
{93} |
| 12- Wpks- 136 |
prenatal |
{94} |
| 12- Wpks- 137 |
postnatal |
{95} |
| 12- Wpks- 138 |
postnatal |
{96} |
| 12- Wpks- 139 |
prenatal |
{97} |
| 12- Wpks- 140 |
postnatal |
{98} |
| 12- Wpks- 141 |
postnatal |
{99} |
| 12- Wpks- 142 |
prenatal |
{100} |
| 12- Wpks- 143 to 145 |
1 x
prenatal, 2x postnatal |
{101} |
| 12- Wpks- 146 to 147 |
2 x prenatal |
{102} |
| 12- Wpks- 148 |
prenatal |
{104} |
| 12- Wpks- 149 to 150 |
2 x
postnatal |
{105} - 1 case i(12p) of
maternal origin, 3 cases i(12p) of
paternal origin |
| 12- Wpks- 151 |
postnatal |
{106} |
| 12- Wpks- 152 - 153 |
2 x prenatal |
{108} cases 9 and 10 |
| 12- Wpks- 154 |
prenatal |
{109} |
| 12- Wpks- 155 |
postnatal |
{111} |
| 12- Wpks- 156 |
prenatal |
{112} case 12 |
| 12- Wpks- 157 |
prenatal |
{113} 1 case |
| 12- Wpks- 158 |
postnatal |
{115} 1 case |
| 12- Wpks- 159 |
prenatal |
{116} 1 case - mosaic 47,XX,+12/47,XX,i(12p) mat UPD of normal chrs. 12 |
| 12- Wpks- 160 |
prenatal |
{120} 1 case, {181}case 4 |
| 12- Wpks- 161 |
postnatal |
{121} 1 case ; {161} |
| 12- Wpks- 162 |
postnatal |
{122} 1 case paternally
derived mar |
| 12- Wpks- 163 |
prenatal |
{124} case 5 |
| 12- Wpks- 164 |
postnatal |
{126} 1 case |
| 12- Wpks- 165 |
prenatal |
{128} case 19, {134} 1
case |
| 12- Wpks- 166 |
prenatal |
{188} case 12-Wpks-166 |
| 12- Wpks- 167 |
prenatal |
{188} case 12-Wpks-167; Array: 0.00-36.29 MB |
| 12- Wpks- 168 to 169 |
2 x prenatal |
{129} 2 cases |
| 112- Wpks- 170 to 172 |
3 x prenatal |
{130} cases 62-65 |
| 12- Wpks- 173 |
prenatal |
{188} case 12-Wpks-173 |
| 12- Wpks- 174 |
postnatal |
{132; 179} 1 case - mosaic
of tetrasomy, trisomy and disomy 12p |
| 12- Wpks- 175 to 176 |
2 x prenatal |
{133} |
| 12- Wpks- 177 to 183 |
7 x
postnatal |
{134} 5 mat origin, 1 pat
origin, 1 n.d.; {137} |
| 12- Wpks- 184 to 185 |
2 x prenatal |
{134} 2 cases |
112- Wpks- 186 |
postnatal |
{138} |
| 12- Wpks- 187 |
prenatal |
{139} |
| 12- Wpks- 188 |
prenatal |
{145} 1 pat origin |
| 12- Wpks- 189 |
postnatal |
{151} 1 case |
| 12- Wpks- 190 to 191 |
2 x prenatal |
{152} 2 cases |
| 12- Wpks- 192 |
prenatal |
{153} 1 case |
| 12- Wpks- 193 |
prenatal |
{154} 1 case |
| 12- Wpks- 194 to 195 |
2 x prenatal |
{155} 2 cases |
| 12- Wpks- 196 |
postnatal |
{156} 1 case |
| 12- Wpks- 197 |
postnatal |
{157} 1 case |
| 12- Wpks- 198 |
prenatal |
{180} |
| 12- Wpks- 199 |
postnatal |
{159} 1 case |
| 12- Wpks- 200 |
postnatal |
{160} 1 case; {200} case 1 |
| 12- Wpks- 201 to 202 |
1 x
prenatal, 1 x postnatal |
{162} 1 case |
| 12- Wpks- 203 |
prenatal |
{164} 1 case |
| 12- Wpks- 204 |
postnatal |
{165} 1 case |
| 12- Wpks- 205 to 206 |
2 x
postnatal |
{166} 2 cases |
| 12- Wpks- 207 to 210 |
4 x
postnatal |
{167} 4 cases |
| 12- Wpks- 211 |
prenatal |
{168} 1 case |
| 12- Wpks- 212 |
postnatal |
{169} 1 case |
| 12- Wpks- 213 |
postnatal |
{167} 1 case, {171} |
| 12- Wpks- 214 |
postnatal |
{172} 1 case |
| 12- Wpks- 215 |
postnatal |
{173} 1 case |
| 12- Wpks- 216 |
postnatal |
{174} case 19 |
| 12- Wpks- 217 |
prenatal |
{175} 1 case |
| 12- Wpks- 218 |
prenatal |
{176} 1 case |
| 12- Wpks- 219 |
prenatal |
{177} 1 case |
12- Wpks- 220 |
postnatal |
{103} 1 case |
| 12- Wpks- 221 |
prenatal |
{178} 1 case |
| 12- Wpks- 222 |
prenatal |
{34} 3 cases |
| 12- Wpks- 223 |
postnatal |
{59} |
| 12- Wpks- 224 |
prenatal |
{60} |
| 12- Wpks- 225 |
prenatal |
{61} |
| 12- Wpks- 226 |
postnatal |
{184} |
| 12- Wpks- 227 to 228 |
prenatal |
{185} cases 4 and 5 |
| 12- Wpks- 229 |
postnatal | {187} double ring! |
| 12- Wpks- 229a |
prenatal |
{236} double ring! |
| 12- Wpks- 230 to 231 |
postnatal |
{189, 270} 2 cases |
| 112- Wpks- 232 to 234 |
prenatal |
{190} 3 cases |
| 12- Wpks- 235 |
postnatal |
{191, 193} 1 case |
| 12- Wpks- 236 to 242 |
prenatal |
{192} 7 cases |
| 12- Wpks- 243 |
postnatal |
{194} case 25838 |
| 12- Wpks- 244 |
postnatal |
{195} |
| 12- Wpks- 245 |
prenatal |
{0} case provided by Dr.
Morlot, Hannover |
| 12- Wpks- 246 to 247 |
prenatal |
{196} cases 4 and 5, 1
mosaic |
| 12- Wpks- 248 to 249 |
postnatal |
{197} 2 cases |
| 12- Wpks- 250 |
prenatal |
{198} |
| 12- Wpks- 251 |
postnatal |
{199}
48,XX,+i(12p)x2[2]/46,XX[8] |
| 12- Wpks- 252 to 258 |
postnatal |
{200} 7 cases |
| 12- Wpks- 259 |
prenatal |
{201} |
| 12- Wpks- 260 |
prenatal |
{202} |
| 112- Wpks- 261 to 262 |
postnatal |
{203} 2 cases |
| 12- Wpks- 263 |
prenatal |
{204; 205} |
| 12- Wpks- 264 |
prenatal |
{206} |
| 12- Wpks- 265 |
prenatal |
{207} |
| 12- Wpks- 266 |
prenatal |
{208} |
| 12- Wpks- 267 |
postnatal |
{209; 210} besides sSMC
also XXY and del(1)(p36.1p36.3) |
| 12- Wpks- 268 to 270 |
postnatal |
{211} 3 cases |
| 12- Wpks- 271 |
postnatal |
{212} case 3 |
| 12- Wpks- 272 to 327 |
postnatal |
{213; 229; 232; 234} 58
cases {230} 15 of those cases |
| 12- Wpks- 328 to 329 |
postnatal most likely small mosaic; mild symptoms only |
{231} 2 cases; {308} |
| 12- Wpks- 330 |
prenatal |
{0} provided by Dr.
Morlot, Hannover, Germany |
| 12- Wpks- 331 |
prenatal |
{0} provided by Dr.
Mau-Holzmann, Tübingen, Germany |
| 12- Wpks- 332 |
prenatal |
{0} provided by Dr.
Petersen, Athens, Greece |
| 12- Wpks- 333 |
postnatal |
{214} |
| 12- Wpks- 334 |
postnatal |
{215} |
| 12- Wpks- 335 |
postnatal |
{216} |
| 12- Wpks- 336 |
prenatal |
{217} |
| 12- Wpks- 337 |
postnatal |
{218} |
| 12- Wpks- 338 |
prenatal |
{0} provided by Dr.
Morlot, Hannover, Germany |
| 12- Wpks- 339 |
postnatal |
{219} |
| 12- Wpks- 340 |
postnatal |
{220} - i(12p) of maternal
origin |
| 12- Wpks- 341 |
prenatal |
{0} provided by Dr.
Morlot, Hannover, Germany |
| 12- Wpks- 342 to 354 |
postnatal |
{222} 13 cases |
| 12- Wpks- 355 |
prenatal;
also der(15)t(15;18)(q24;q21)mat |
{223} |
| 12- Wpks- 356 |
postnatal |
{224} |
| 12- Wpks- 357a |
postnatal
twin II |
{225} |
| 12- Wpks- 357b |
postnatal
twin I |
{225; 237; 308} |
| 12- Wpks- 358 to 360 |
postnatal |
{226} 3 cases |
| 12- Wpks- 361 to 365 |
postnatal |
{227; 233} 5 cases |
| 12- Wpks- 366 |
prenatal |
{0} provided by Dr.
Manolakis, Athens, Greece |
| 12- Wpks- 367 |
postnatal |
{229} |
| 12- Wpks- 368 |
postnatal |
{238} 2 isochromosomes in
47% of skin fibroblasts |
| 12- Wpks- 369 to 371 |
postnatal |
{239} 3 cases |
| 12- Wpks- 372 |
postnatal |
{0} provided by Dr. A.
Kuechler, Essen, Germany |
| 12- Wpks- 373 |
postnatal |
{242} |
| 12- Wpks- 374 |
prenatal |
{243} |
| 12- Wpks- 375 to 464 |
postnatal |
{244} 90 cases |
| 12- Wpks- 465 to 467 |
postnatal |
{245} |
| 12- Wpks- 468 |
postnatal |
{246} |
| 12- Wpks- 469 |
postnatal |
{247} |
| 12- Wpks- 470 to 477 |
postnatal |
{249} |
| 12- Wpks- 478 to 489 |
postnatal |
{251} 2 female, 10 male |
| 12- Wpks- 490 |
prenatal |
{0} provided by Dr. Eiben,
Essen, Germany |
| 12- Wpks- 491 |
prenatal |
{252} |
| 12- Wpks- 492 |
prenatal |
{253} |
| 12- Wpks- 493 |
postnatal |
{254} |
| 12- Wpks- 494 to 511 |
postnatal |
{255-256} overall 18 cases |
| 12- Wpks- 512 |
prenatal |
{257} |
| 12- Wpks- 513 |
prenatal |
{258} |
| 12- Wpks- 514 to 523 |
postnatal |
{259; 260} |
| 12- Wpks- 524 |
postnatal |
{261} 1 case |
| 12- Wpks- 525 |
prenatal |
{0} provided by Dr. Eiben,
Essen, Germany |
| 12- Wpks- 526 |
prenatal | {262} 1 case |
| 12- Wpks- 527 |
postnatal | {263} 1 case |
| 12- Wpks- 528 to 548 |
postnatal | {264} 21 cases |
| 12- Wpks- 549 |
postnatal |
{265} 1 case |
| 12- Wpks- 550 to 555 |
postnatal |
{266} 5 cases |
| 12- Wpks- 556 |
postnatal |
{267} 1 case |
| 12- Wpks- 557 |
prenatal |
{268} 1 case |
| 12- Wpks- 558 to 567 |
postnatal |
{269} 10 cases |
| 12- Wpks- 568 to 587 |
postnatal |
{270} 20 cases |
| 112- Wpks- 588 |
postnatal |
{271} 1 case |
| 12- Wpks- 589 |
prenatal |
{273} 1 case |
| 12- Wpks- 590 to 591 |
prenatal |
{274} 2 cases |
| 12- Wpks- 592 to 594 |
postnatal |
{275} 3 cases |
| 12- Wpks- 595 to 599 |
prenatal |
{276} 5 cases |
| 12- Wpks- 600 |
prenatal |
{277} 1 case |
| 12- Wpks- 601 |
postnatal |
{280} 1 case |
| 12- Wpks- 602 |
prenatal |
{281} 1 case |
| 12- Wpks- 603 to 604 |
postnatal |
{282} 2 cases |
| 12- Wpks- 605 |
postnatal |
{283] 1 case |
| 12- Wpks- 606 |
postnatal |
{284} 1 case |
| 12- Wpks- 607 |
n.a. |
{285} case P1 |
| 12- Wpks- 608 |
postnatal |
{286} 1 case |
| 12- Wpks- 609 |
prenatal |
{287} 1 case |
| 12- Wpks- 610 |
prenatal |
{181} case 5, {188} case
12-Wpks-185 |
| 12- Wpks- 611 |
postnatal |
{287} |
| 12- Wpks- 612 |
postnatal |
{288} |
| 12- Wpks- 613 |
prenatal |
{290} |
| 12- Wpks- 614 to 727 |
prenatal |
{291} 114 cases |
| 12- Wpks- 728 |
prenatal |
{292} |
| 12- Wpks- 729 |
postnatal |
{293} |
| 12- Wpks- 730 |
prenatal |
{294} |
| 12- Wpks- 731 |
prenatal |
{295} |
| 12- Wpks- 732 |
postnatal |
{296} |
| 12- Wpks- 733 to 736 |
prenatal |
{297} 4 cases |
| 12- Wpks- 737 to 740 |
postnatal |
{298} 4 cases; 2 of them
also in {301} |
| 12- Wpks- 741 |
postnatal +der(12)t(12;12)(q12;p12.1) |
{298} 1 case |
| 12- Wpks- 742 |
prenatal |
{299} |
| 12- Wpks- 743 to 745 |
postnatal |
{300} 3 cases |
| 12- Wpks- 746 |
prenatal |
{302} |
| 12- Wpks- 747 to 761 |
postnatal |
{303} 15 cases |
| 12- Wpks- 762 |
postnatal |
{304} case 2, {305} |
| 12- Wpks- 763 |
prenatal |
{306; 307} case 23/ aCGH
20 |
| 12- Wpks- 764 to 766 |
prenatal |
{309} cases 14, 15, 20 |
| 12- Wpks- 767 to 769 |
prenatal 3 cases detected by NIPT |
{310} 3 cases |
| 12- Wpks- 770 |
prenatal |
{311} |
| 12- Wpks- 771 |
postnatal |
{312} |
| 12- Wpks- 772 |
postnatal (2x i(12p)) |
{313} |
| 12- Wpks- 773 |
postnatal |
{314} case P11 |
| 12- Wpks- 774 |
prenatal |
{315} |
| 12- Wpks- 775 |
prenatal |
{316} |
| 12- Wpks- 776 |
postnatal |
{317} |
| 12- Wpks- 777 to 778 |
postnatal |
{318} 2 cases |
| 12- Wpks- 779 |
prenatal |
{319} |
| 12- Wpks- 780 |
postnatal |
{320} |
| 12- Wpks- 781 |
postnatal |
{321} |
| 12- Wpks- 782 |
postnatal |
{322} |
| 12- Wpks- 783 |
postnatal |
{323} |
| 12- Wpks- 784 |
postnatal |
{0}
provided from Germany
|
| 12- Wpks- 785 |
postnatal |
{324}
|
| 12- Wpks- 786 |
postnatal |
{325} |
| 12- Wpks- 787 |
prenatal |
{326} |
| 12- Wpks- 788 to 790 |
prenatal |
{327} 3 cases |
| 12- Wpks- 791 |
prenatal |
{328} |
| 12- Wpks- 792 to 796 |
prenatal |
{329} 5 cases |
| 12- Wpks- 797 to 799 |
postnatal |
{330} 3 cases |
| 12- Wpks- 800 to 803 |
postnatal |
{331} 4 cases |
| 12- Wpks- 804 to 805 |
prenatal postnatal |
{0} provided from Köln, Germany |
| 12- Wpks- 806 to 827 |
postnatal |
{333; 334} 22 cases |
| 12- Wpks- 828 to 829 |
postnatal |
{335} |
| 12- Wpks- 830 |
postnatal |
{336} 1 case |
| 12- Wpks- 831 |
postnatal |
{337} |
| 12- Wpks- 832 |
postnatal |
{338} |
| 12- Wpks- 833 to 834 |
prenatal |
{340} cases 5 and 15 |
| 12- Wpks- 835 |
postnatal with Burkitt lymphoma and rel. mild PKS symptoms |
{342} |
| 12- Wpks- 836 |
prenatal detetcted by NIPT |
{343} |
| 12- Wpks- 837 to 859 |
postnatal |
{344} - 23 cases |
| 12- Wpks- 860 |
prenatal |
{345} case 71 |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding result grade of mosaicism |
final result of the sSMC |
test methods |
clinical symptoms |
Reference |
| 12- W- pter/ 1-1 |
see 12-Ud-1 | |||||||
| 12- W- pter/ 2-1 |
male/ postnatal? |
PBL? |
n.a. | 47,XY,+mar[46%]/ 46,XY[54%] |
mar(12)(:pter→q11:) | aCGH | abnormal | {194} case 23919 |
| 12- W- pter/ 3-1 |
see 12-Ud-2 | |||||||
| 12- W- p13/ 1-1 °°°
|
male/ 1w |
PBL | de novo | 47,XY,+r[13]/ 46,XY[7] |
r(12)(::p13→q11::)* | SKY, cep 12; TEL-probe | see below | {114} |
| born at term, weight: 3.1 kg, APGAR 6 at 1 and 5 min. immediate respiratory distress, cyanosis, and hypoxemia. Congenital heart malformation was suspected Chest roentgenogram revealed dextrocardia, mild cardiomegalie, increased pulmonary venous marking, and left aortic arch (the major axis of the heart oriented from left shoulder to right hip, with the morphologic left atrium located to the left of the morphologic right atrium), obstructed infradiaphragmatic TAPVR to the portal vein/inferior vena cava, large secundum atrial septal defect, and patent ductus arteriousus. All the pulmonary veins coalesced behind the right atrium into a common pulmonary venous confluence, which drained to the portal system. Splenic tissue in the left upper quadrant suggesting abdominal situs solitus. After surgery, secondary supraventricular tachycardia At 8 month weight: 15th, length: 50th centile, head circumference 15th centile; no DD at this time. | ||||||||
12- W- p13/ 1-2 °°°
|
female/ 6m |
PBL | de novo | 47,XX,+r[50%]/ 46,XX[50%] |
r(12)(::p13→q11::) | wcps for all chromosomes, cep 12; different FISH-probes as specified in {127} | see below | {127} |
| born by cesarean section because placenta praevia, birth weight 3205g (50th centile), OFC 42.5cm (50th centile), no abnormality at birth noted; from birth on motor DD retarded plus nystagmus; at 6m additionally noted hypotonia (esp. of trunk), decreases vision, nystagmus, alternating strabismus convergence; at 13m height 73cm (P10-P50), weight 9kg (P10-P50) OFC 45.2cm (P10-P50), plagiocephaly, protruding and low-set left ear, slight hypotonia; walking at 2y7m, speech severely delayed (at 3y only a few words); visual activity of 0.25 because of cerebral visual impairment; at 6y obesity (height 117 (P25), weight 29.4kg (3kg; ~ P98), severe flat feet, speaking only single words and 2-word sentences. | ||||||||
| 12- W- p13.1/ 1-1 °°°
|
female/ 6m |
PBL | de novo | 47,XX,+r[50%]/ 46,XX[50%] |
r(12)(::p13.1→q1?::)* | all wcp probes, cep12, 12p centromere near probes as specified in {13} | see below | {13} |
| normal at birth; sSMC missed in prenatal diagnosis, which was done due to advanced maternal age; at 6m motor retardation, poor visual contact, hypotonia, plagiocephaly, decreased vision, horizontal nystagmus | ||||||||
| 12- W- p12.3/ 1-1 |
male/ 17y |
PBL | de novo | 47,XY,+mar[22]/ 46,XY[28] |
r(12)(::p12.3→p11.2::) | midi and reverse FISH | see below | {0} provided by Lilia Kraoua, Tunis, Tunesia |
| at birth w: 3600g, lenght 51cm, OFC 37cm; inguinal hernia, cryptochidism, psychomotor delay, speech delay, seizures at 4y; MR; aggressive behavior, insomnia, at 17y w 59kg, h: 170cm; PC 58cm, facial dysmorph, bilat. Camptodactyly and clinidactyly of 5th finger, nystagmus, myopia | ||||||||
12- W- p12.2/ 1-1 |
female/ 1w |
PBL | de novo | 47,XX,+r[100%] | min(12)(::p12.2→q13.11::)* 25.53-46.40 Mb present on sSMC |
M-FISH, aCGH | see below | {144} |
| Pregnancy and delivery normal, at birth weight 3485 g, APGAR score 7-9-10. Dysmorphic bilateral optic disc coloboma, small chin, broad mouth, large tongue, angulated ears, pronounced nuchal skin folds and bilateral partial syndactyly of second and third toes, patent ductus arteriousus, mildly reduced myocardial contractility. Brief myoclonic spasms in lower extremities observed 1month after birth. Shortly after this, generalized tonic-clonic seizures. The electroencephalogram was normal and computed tomography showed no radiological abnormalities of the brain and skull. Swallowing was difficult and there was hypertonia of lips and cheeks. At 15m received a percutaneous endoscopic gastrostomy. Weight and head circumference are within normal limits, whereas height is more than 3 SD above normal. She still often falls to one side when sitting, she can stand only when held and helped, does not yet walk and has mild flexion contractures of her knee joints | ||||||||
| 12- W- p12.1/ 1-1 |
male/ n.a. |
PBL | de novo | 47,XY,+r[63%]/ 46,XY[37%] |
r(12)(::p12.1→q12::) | centromeric probes, cep 12; YACs in 12q12, 12p11-p12.1; SOX-gene specific YAC | see below | {8} |
| Uneventful pregnancy; born at term by cesarean section due to uterine inertia. Weight: 3520g; length 51cm; OFC 33cm; At birth. anorectal malformation with urethral fistula; skeletal X-ray showed multiple dorsal and lumbar hemivertebrae, sacral agenesis, multiple fused ribs; medullar lipoma; thickened terminal filum, hydromelia; absence of left kidney; normal psychomotor development | ||||||||
|
W- p11.21/ 1-1 |
female/ 5y |
PBL buccal mucosa urine cells |
pat sSMC in PBL 6-18% in buc muc: 19% in urine cells: 6% |
47,XX,+mar[6]/ 46,XX[24] in buc muc: 25% in urine cells: 29% |
r(12)(:p11.21→q13.11:) hg19: 32598017-48639744 |
FISH, aCGH |
language
delay, auditory conduction changes, epilepsy,
skin pallor, attention and concentration
difficulties, and autistic spectrum features.
global DD. DYS; father normal |
{332} |
|
***
12-W- p11.1/ 1-1 °°°
|
male/ 15y |
PBL (EKF- cellbank) |
de novo | 47,XY,+r[21]/ 46,XY[11] |
min(12)(:p11.1→q12:) FISH-data: RP11-490D11 at 40.2MB on sSMC |
cenM; subcenM |
psychomotor retardation; craniofacial DYS | {1} case 18 |
|
***
12-W- p11.1/ 1-2 °°°
|
male/ 2.5y |
PBL | de novo (?) | 47,XY,+mar[100%] | min(12)(:p11.1→q11~12:) FISH-data: RP11-490D11 at 40.2MB on sSMC |
cenM; subcenM |
see below | {125} case12-4 |
| Birth weight was 3.1 kg, length 50 cm and head circumference 35 cm. He presented mild retrognathia, feeding problems with poor sucking; psychomotor development retarded with delayed visual maturation; able to walk without support at the age of 18 months; At 2.5y psycho diagnostic testing revealed severe developmental delay (developmental level of 12 months at the age of 30 months) with autistic behavioral features; at age of 5y 4m severely mentally retarded; weight 17 kg (25th percentile), height 102 cm (third percentile); HF 48.8 cm (third percentile); general physical development is adequate; mild facial dysmorphism with large mouth, full lips, relative midface hypoplasia, small and conical teeth; except for two extra nipples on the right side and one on the left side, no other congenital malformations are present. Routine biochemical and metabolic screening and brain MRI scan are normal. | ||||||||
| 12- W- p11.1/ 2-1 °°°
|
female/ 1y 2m |
PBL | de novo | 47,XX,+r[6]/ 46,XX[24] in FISH sSMC only in 9/90 cells |
r(12)(::p11.1→q14::)[7]/ r(12)(::p11.1→q11::)[2] FISH-data; break in q14 between 46.63 and 56.12 MB |
wcp12; MCB; subcenM; PCL-FISH | see below | {110} {228} case 13 |
| second child of non-identical twins, born in week 37 of gestation; failure to thrive, recurrent respiratory tract infections, developmental delay, atrial septum defect, dysmorphic features like prominent metopic suture, down slating palpebral fissures, low set ears, long slim digits; weight and length <0.4 centile; OFC~3rd centile; | ||||||||
| 12- W- p11.1/ 3-1 |
female/ 10y |
PBL | de novo | 47,XX,+mar[60%]/ 46,XX[40%] |
min(12)(:p11.1→q11:) | cenM; subcenM |
complex retardation, cleft palate, heart defect, pulmonalarterial stenosis, congenital microcephaly | {0} provided by Dr. Demuth, Dresden, Germany |
| 12- W- p11.1/ 3-2 |
female/ 9y |
PBL | n.a. | 47,XX,+mar[30%]/ 46,XX[70%] |
min(12)(:p11.1→q11:) | cenM; subcenM |
dwarphism, B-cell-leukemia at age of 6 years | {0} provided by Dr. Gödde, Recklinghausen, Germany |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 12- W- IMB- p13 1-1 to 1-10 |
10 case with partial trisomy 12p are summarized in Ref {140} | {140} | |||||
| 12- W- IMB- p13.2/ 1-1 |
female/ 19m |
PBL | de novo | 46,XX,dup(12)(p11.2p13.2),trp(12)(p13.2 pter)[5%]/46,XX[15%] | aCGH | at 19m broad, high forehead, bitemporal balding, small posteriorly rotated ears, global DD, and mild hypotonia; able to sit but not pull to a stand. | {241} |
| 12- W- IMB- p12.3/ 1-1 °°°
|
n.a./ postnatal |
PBL | paternal, unbalanced | 46,XY,inv(12)(pter→p11.22::q14.1→p12.3::q14.1→qter) i.e. partial trisomy of 12p12.3-p11.2 |
BAC-FISH, aCGH | father and son with MR and mild facial features | {148} |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding
result grade of mosaicism |
final
result of the sSMC |
test methods |
clinical
symptoms |
Reference |
| 12- CW- 1 |
male/ 2y |
PBL | de novo | 47,XY,+mar[20%]/ 46,XY[80%] |
r(12) | FISH with all available centromeric probes | DD, vesico-ureteric reflux | {6} case 5 |
| 12- CW- 2 |
female/ 7y |
PBL | de novo | 47,XX,+mar[58%]/ 46,XX[42%] |
r(12)[52%]/ r(12;12)[6%] |
telomeric probes; all centromeric probes in an array | non-dysmorphic but moderate DD |
{7} case 1 |