ChromosOmics - Database
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                                                  CHROMOSOME #12 -                                                 
ABNORMAL
Specific PATIENTINFORMATION for sSMC(12)
Cases with isochromosome 12p (W-iso)

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}

Cases with clinical findings (W)

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)(:pterq11:) 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)(::p13q11::)* 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)(::p13q11::) 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)(::p13.1q1?::)* 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)(::p12.1q12::) 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

12-
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)(:p11.21q13.11:)
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)(:p11.1q12:)
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)(:p11.1q11~12:)
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)(::p11.1q14::)[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)(:p11.1q11:) 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)(:p11.1q11:) cenM;
subcenM
dwarphism, B-cell-leukemia at age of 6 years {0} provided by Dr. Gödde, Recklinghausen, Germany

W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

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)(pterp11.22::q14.1p12.3::q14.1qter)
i.e. partial trisomy of 12p12.3-p11.2
BAC-FISH, aCGH father and son with MR and mild facial features {148}

W-cases with unclear/insufficient characterization of the sSMC (CW)

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