ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #22 -                                                 
ABNORMAL

Cases without clinical findings
Similar imbalances - no sSMC
Cases with clinical findings
Similar imbalances -
no sSMC

der(22)t(11;22) syndrome
der(22)t(8;22) syndrome
Cat-Eye-syndrome (CES)
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER


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(22)mat UPD(22)pat UPD(22)mat or pat

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
22-
W-

q10/
1-1
male/
prenatal
AF de novo 47,XY,r(22),+mar mar: r(22)(pterq10),
r(22): r(22)(q10q13.31)
different probes not specified; ARSA AMA; US normal, TOP, autopsy: clinodactyly of 5th fingers, low set ears, hypertelorism {166}
22-
W-

q11/
1-1
n.a./
n.a.
PBL n.a. n.a. inv dup(22)(q11) acro M DD {27} case 9
22-
W-

q11/
1-2
female/
1m
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11) (wcp22+) all available centromeric probes; wcp 22 see below {34} case 13
moderately prominent occiput; sloping forehead, slanted palpebral fissures, epicanthus, strabismus, prominent cheekbones, broad root of the nose, thin palabium, short frenulum of the tongue, low-set ears, hypotonia, umbilical hernia, cryptorchidism
22-
W-

q11/
1-3
male/
prenatal
AF de novo 47,XY,+mar[38%]/
46,XY[62%]
inv dup(22)(q11) different FISH probes as specified in {36}; UPD-test see below {36} case 5
{37} case 12
AMA; at 5y normal apart from high frequency hearing loss on right side, at 7y required speech therapy, has squint and is autistic; normal appearance
22-
W-

q11.1/
1-4
male/
postnatal
PBL n.a. 47,XY,+mar[?%] inv dup(22)(q11.1) midi, subcenM decreased general hair pigmentation, nanism, obesity, hypothyreosis, delay skeletal maturity, constipations, MR {377} case 22-W-q11.1/1-4
22-
W-

q11.1/
1-5
female/
6y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM dwarphism, club foot {377} case 22-W-q11.1/1-5
22-
W-

q11.1/
1-6
female/
2y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM dwarphism {377} case 22-W-q11.1/1-6
22-
W-

q11.1/
1-7
male/
7y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep probes subcenM DD, DYS
{0} provided from Munich., Germany
22-
W-

q11.1/
1-8
female/
9y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM DD, DYS
{0} provided from Recklinghausen, Germany
22-
W-

q11/
2-1
female/
11y
PBL n.a. 48,XX,+marx2[100%] inv dup(22)(q11)x2 (D22Z4++,D22S9-;N25-) D22Z4, D22S9, N25 see below {39}
Catecholaminergic polymorphic ventricular tachycardia, which manifested at 10y with recurrent collapses due to atrial and ventricular tachycardia; DYS, moderate learning difficulties
22-
W-

q11.1/
3-1
female/
7y
PBL n.a. 47,XX,+mar[13]/
46,XX[28]
r(22)(::p1?3q11.1::)[7]/
inv dup22(q11.1)[5]/
r(22;22)(::p1?3
q11.1:
:p1?3
q11.1)[1]
cep probes subcenM slight MR and hypermobility {377} case 22-W-q11.1/3-1
22-
W-

q11.2/
1-1

°°°
male/
prenatal
AF/ PBL de novo (?) 47,XY,+mar[100%]
chord blood: no mar in 100 cells
min(22)(pterq11.2:) cep 14/22; wcp22; D22S75 (bcr); D22S39 see below {109}
Amniocentesis due to multicystic dysplasia in right fetal kidney, low symmetric intrauterine growth retardation (<20 centile) in week 32; growth retardation persisted in week 37 (5.-10. centile); birth in week 39 with 2200g (<3. centile) and Apgar 9/9; slightly dysmorphic child with hypertelorism, low hair attachment, micrognathia, pre-auricular fistula, slightly reduced spontaneous motility, hypertonic limbs; multicystic right kidney; enlarged left kidney; further development with moderate generalized hypotonia and moderate global psychomotor developmental retardation; At 14 months bilateral eye abduction weakness diagnosed → Duane anomaly;
22-
W-

q11.2/
1-2

°°°
female/
infant
PBL de novo 47,XX,+mar[100%] min(22)(pterq11.2:)
sSMC derived from a paternal chromosome 22
cep14/22; UPD-test costovertebral displasia (CVD) {169; 182}
22-
W-

q11.2/
1-3

°°°
male/
2m
PBL de novo 47,XY,+mar[100%] min(22)(pterq11.2:) acrocenM, subcenM axial hypotonia, lack of correct neck support, DD {377} case 22-W-q11.2/1-3
22-
W-

q11.2/
1-4

°°°
female/
prenatal
AF de novo 47,XX,+mar[100%] min(22)(pterq11.2:) acrocenM, subcenM heartdefect, TOP {377} case 22-W-q11.2/1-4
22-
W-

q11.2/
2-1
see McCl-22-W-q11.2/2-1
22-
W-

q11.21/
1-1

°°°
male/
postnatal
PBL
cell line at ECACC AL0016
n.a. 47,XY,+mar[100%] min(22)(pterq11.21:)
only first CES-specific BAC (B81B3) present
acrocenM, subcenM, CES-BACs DD, DYS {184} case 13
22-
W-

q11.21/
2-1

°°°
female/
postnatal
PBL
cell line at ECACC CC0155
n.a. 47,XX,+mar[100%] dic(22)(pterq11.21:
:p11.2
q11.21:)
acrocenM, subcenM, CES-BACs renal agenesis, absent uterus; Duane anomaly {184} case 14;
{377} case 22-W-q11.21/2-1
22-
W-

q11.21/
3-1
see 22-Ud-1
22-
W-

q11.21/
4-1
female/
1y
PBL n.a. 47,XX,+mar[100%] der(22)(pterq11.21:
:p11.?2
pter)
cep, subcenM congenital heart defect (abnormal pulmonary venous return), preauricular tags, DYS, mild hypotonia, normal growth and DDt {377} case 22-W-q11.21/4-1
22-
W-

q11.2/
1-5

°°°
male/
postnatal
PBL de novo 47,XY,+mar[13]/
46,XY[37]
inv dup(22)(q11.21)
~0.78 and 0.4MB in euchromatin
pericentric BAC-probe set at 6 months face asymmetry and reduced right eyelid {300} case 18
22-
W-

q11.21+
q11.23/
1-1
see 22-Ud-2
22-
W-

q11.22/
1-1

°°°
female/
7y
PBL de novo 47,XX,+mar[100%] min(22)(pterq11.22:) cep probes; ARSA; N25; TUPLE1; wcp22; subtel 22 see below {168}
Ebstein's anomaly including tricuspid atresia, pulmonary atresia, mild mental retardation, asthma, decreased urine output and dysmorphic features: slightly brachycephalic head, frontal bossing, hypoplastic midface, feet with mild pes planus, clubbing of fingers and hypertelorism), mild hypotonia. Patient was born at term bw:6lb 6oz
22-
W-

q11.23/
1-1
n.a./
postnatal
PBL n.a. 47,+mar[57%]/
46[43%]
r(22)(::p10q11.23:
:q11.23
p10::)*
distal clone in 22q RP11-947A12 (22.10 MB)
aCGH Duane's syndrome {195} case 13
22-
W-

q12.1/
1-1

°°°
male/
1y
PBL
(EKF-
cellbank)
de novo 47,XY,+mar[22]/
46,XY[6]
min(22)(pterq12.1:)
FISH-data:
pter to 24.6MB
distal from 20.75Mb
cenM, subcenM, locus-specific BACs; CR-FISH; UPD-test see below {345} case 12;
{377} case 22-W-q12.1/1-1
born in week 39 after uneventful pregnancy, weight 3350g, length 52 cm, head circumference 37cm, APGAR 10/10/10; after birth diagnose of Morbus Hirschsprung and correction by surgery. VSD, enlarged ventricle acc. to sonography of brain. At age of 5y muscular hypotonia and statomotoric retardation, macrocephaly, head circumference 55.5cm (>97th centile), adipositas, antimongoloid palpebral fissures, long philtrum, deep sitting ears. parents are 1 grade cousins.
22-
W-

q13.3/
1-1

°°°
n.a./
postnatal
PBL n.a. 47,+r[100%] r(22)(::p11.2q13.3::)
array: 15.31-49.34 MB
aCGH mild prematurity, asthma, microcephaly, MR, DD, aggressive behavior {377} case 22-W-q13.3/1-1

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
22-
W-

IMB-
q11.2/
1-many
dup(22)(q11.2) can cause Di George syndrome
see also {222}
{207}
22-
W-

IMB-
q13.1/
1-1

°°°
46,XX,der(22)(qterq11.2::p11.3q13.1:)
severely MR, DYS
{239}
22-
W-
IMB-
q13.1/
2-1

°°°
46,XY,der(22)(pterq13.3::q11q13.1:) or
46,XY,der(22)(pter
q13.3::q13.3q13.1:)
severely MR, DYS {240}
-
-
-
-
-
-
-
-

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
22-
CW-
1
male/
prenatal
AF/PBL de novo 47,XY,+mar[80%]/
46,XY[20%]
(in PBL as well 80% of cells with mar)
mar(22) n.a.; UPD-test AMA; normal - unaffected (diagnosed in amnion); mild DD; high frequency hearing loss {21} case 18
{37} case 12
22-
CW-
2
female/
1m
PBL de novo 47,XX,+mar[100%] inv dup(22) all available centromeric probes hypertelorism, flat nasal bridge; normal IQ at age of 20y;mother had karyotype 47,XXX[3%]/46,XX[97%] {28} case 531
22-
CW-
3
male/
prenatal
AF maternal
(mar in 1.3% of PBL)
47,XY,+mar[50%]/
46,XY[50%]
r(22)(wcp22+) all available centromeric probes; wcp 22 see below {34} case 14
mother phenotypically normal, pregnancy terminated in week23; fetus had hypertelorism, broad root of the nose, edematous eyelids, neck and upper back; clinodactyly of 5th finger.
22-
CW-
4
male/
13y
PBL de novo 47,XY,+mar[55]/
46,XY[45]
inv dup(22)(wcp22+; D14/22Z1++) cep 14/22; wcp22 cryptorchidism, anal atresia, MR; short stature {106-107}
22-
CW-
5
male/
1y
PBL n.a. 47,XY,+mar[100%] min(22) SKY DD
{266} case F0636127
22-
CW-
6
male/
postnatal
PBL n.a. 47,XY,+mar[100%] min(22) SKY DD, DYS {266} case F0636122
22-
CW-
7
female/
11y
PBL n.a. 47,XY,+mar[100%] inv dup(22) SKY DD, DYS {266} case F0646601
22-
CW-
8
female/
1d
PBL n.a. 47,XY,+mar[100%] min(22) SKY microcephaly {266} case F0845840
22-
CW-
9
female/
20y
PBL n.a. 47,XY,+mar[100%] min(22) SKY cong. heartdefect {266} case F0851097

CW-cases with unclear/insufficient characterization of the sSMC itself - without details on the cases (CWw)

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
22-
Cww-
1
'abnormal phenotype'; mar not specified {23} case 21
-
-
-
-
-
-
-
-
-

Cases with der(22) syndrome = Emanuel-Syndrome (Wder) - karyotype 47,+der(22)t(11;22)(q23;q11.2)

ES can now be identified by help of facial diagnostic, supported by computer aid {341}.
The balanced t(11;22) is, if de novo, of paternal origin {227}, with exception of 8 cases, and three case with mosic and postzygotic development (in PBL 36% of cells with t(11;22) {351} , 80% {120}, and 62 % {355})  
see Ref. 187 - they describe a family with t(11;22)(q23;q11) associated with enhanced breast cancer risk.
NIPT can detect this sSMC as shown by {407}

see also J-W Hou. Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation. Chang Gung Med J. 2003;26:48-52.
Breakpoint in #11 between 116,585061-116,774263 [= AC007707 in hg16 and translated in hg19] and in between 21,502,000-21,767,000 [hg19] {293}

case no.
References and maybe some details
22-
Wder-
1
{1} case 29; {3} case shown in Fig. 5;
{377} case 22-Wder-1
22-
Wder-
2
{27} case 10
22-
Wder-
3 to 18

{33; 93; 156} families 1-16
22-
Wder-
19

{36} case 4
22-
Wder-
20
{42} case 33
22-
Wder-
21
{93; 112}
22-
Wder-
22 to 24
{94} case 53, case 84-85 original data
22-
Wder-
25 to 104
{94} reviewed cases: 1-52 and 54-83
22-
Wder-
105 to 124
{95} 20 cases, some of them in {101}
22-
Wder-
125 to 127
{96-98} cases BM85, BM 97; BM317
22-
Wder-
128
{99}
22-
Wder-
129 to 137
{100}
22-
Wder-
138 to 140
{102} case 2, case 18, case 42
22-
Wder-
141
{103}
22-
Wder-
142
{104} case 5
22-
Wder-
143
{0} case provided by Dr. Seidel, Jena; (PBL (EKF-cellbank); der(22) from mother transmitted;
{377} case 22-Wder-143
22-
Wder-
144
{108}
22-
Wder-
145
{110}
22-
Wder-
146
{111}
22-
Wder-
147
{113}
22-
Wder-
148
{114}
22-
Wder-
149
{115}
22-
Wder-
150
{116}
22-
Wder-
151
{117}
22-
Wder-
152
{118}
22-
Wder-
153
{119}
22-
Wder-
154
{120}
22-
Wder-
155
{121}
22-
Wder-
156
{122}
22-
Wder-
157
{123}
22-
Wder-
158
{124}
22-
Wder-
159
{125}
22-
Wder-
160
{126}
22-
Wder-
161
{127}
22-
Wder-
162
{128}
22-
Wder-
163
{129}
22-
Wder-
164
{130}
22-
Wder-
165 to 172
{131}
22-
Wder-
173
{132}
22-
Wder-
174
{133}
22-
Wder-
175
{134}
22-
Wder-
176
{135}
22-
Wder-
177
{136}
22-
Wder-
178
{137}
22-
Wder-
179
{138}
22-
Wder-
180
{139}
22-
Wder-
181
{140}
22-
Wder-
182
{141}
22-
Wder-
183
{142}
22-
Wder-
184
{143}
22-
Wder-
185
{144}
22-
Wder-
186
{145}
22-
Wder-
187
{146}
22-
Wder-
188
{147}
22-
Wder-
189
{148}
22-
Wder-
190
{149}
22-
Wder-
191 to 192
{150}
22-
Wder-
193
{151}
22-
Wder-
194
{152}
22-
Wder-
195
{153}
22-
Wder-
196
{154}
22-
Wder-
197
{155}
22-
Wder-
198
{157}
22-
Wder-
199
{158}
22-
Wder-
200
{159}
22-
Wder-
201
{160}
22-
Wder-
202
{161}
22-
Wder-
203
{162}
22-
Wder-
204 to 227
{164} - 19 maternally inherited, 3 unknown, 2 apparently de novo
22-
Wder-
228
{170} - 1 maternally inherited
22-
Wder-
229
{174} - 1 maternally inherited
22-
Wder-
230
{178} - 1 paternally inherited, case 26
22-
Wder-
231
{180}
22-
Wder-
232 to 233
{185} - cases 4 and 5 maternally inherited
22-
Wder-
234 to 235
{186} - cases 25 and 26
22-
Wder-
236
{181} case 5; {377} case 22-Wder-236
22-
Wder-
237
{198} 1 case
22-
Wder-
238
{199} 1 case
22-
Wder-
239
{200} 1 case
22-
Wder-
240
{203} case 6
22-
Wder-
241
{377} case 22-Wder-241
22-
Wder-
242
{214} 1 case
22-
Wder-
243
{377} case 22-Wder-243
22-
Wder-
244 to 246
{216} cases 38-40; {377} case 22-Wder-244 to 246
22-
Wder-
247
{218} 1 case postnatal, 1 maternally inherited
22-
Wder-
248
{221} 1 case postnatal, 1 maternally inherited
22-
Wder-
249
{225} 1 case prenatal (and postnatal), 1 maternally inherited
22-
Wder-
250
{247} case 16; {377} case 22-Wder-250
22-
Wder-
251
{377} case 22-Wder-251
22-
Wder-
252 to 253
{228} 2 cases
22-
Wder-
254 to 316
{231} 63 cases
22-
Wder-
317
{232} 1 case
22-
Wder-
318 to 319
{233} 2 cases
22-
Wder-
320
{234} 1 case
22-
Wder-
321
{236} 1 case
22-
Wder-
322 to 323
{247} cases 17 and 18
22-
Wder-
324
{252} 1 case
22-
Wder-
325
{253} 1 case
22-
Wder-
326
{377} case 22-Wder-326; maternally inherited
22-
Wder-
327
{0} provided by Dr. Anikó, Ujfalusi, Hungary
22-
Wder-
328
{264} case 2 array-data: #11 break in position 116.27; #22: position 19.07
22-
Wder-
329 to 333
{268} 5 cases
22-
Wder-
334
{270} 1 case (mat)
22-
Wder-
335
{273}
22-
Wder-
336
{0} provided by Dr. Kozlowski, Düsseldorf, Germany
22-
Wder-
337
{286}
22-
Wder-
338
{377} case 22-Wder-338
22-
Wder-
339
{290} 1 case
22-
Wder-
340
{308}
22-
Wder-
341
{309}
22-
Wder-
342
{310}
22-
Wder-
343
{0} provided by Dr. E. Manolakis, Athens, Greece
22-
Wder-
344 to 345
{322}
22-
Wder-
346 to 381
{323}
22-
Wder-
382
{329}
22-
Wder-
383
{330}
22-
Wder-
384
{335}
22-
Wder-
385
{377} case 22-Wder-385
22-
Wder-
386
{377} case 22-Wder-386
22-
Wder-
387
{337} - breakpoints given wrong!
22-
Wder-
388
{338}
22-
Wder-
389
{343}
22-
Wder-
390 to 391
{344} cases P10, P11
22-
Wder-
392
{344} case P16
22-
Wder-
393
{377} case 22-Wder-393
22-
Wder-
394
{348}; also del(7)(q31.33q31.33)
22-
Wder-
395 to 396
{349} 2 cases
22-
Wder-
397
{350} 1 case
22-
Wder-
398 to 401
{352} 4 cases; 2 with possibly slightly different breakpoints
22-
Wder-
402
{352}
22-
Wder-
403
{355} case 12
22-
Wder-
404 to 405
{363} 2 cases prenatal
22-
Wder-
406
{366} case 160246; prenatal
22-
Wder-
407
{375} postnatal
22-
Wder-
408
{387} postnatal
22-
Wder-
409
{388} postnatal
22-
Wder-
410 to 413
{391} postnatal, 4 cases
22-
Wder-
414 to 416
{398} prenatal, 3 cases
22-
Wder-
417 to 422
{399} 6 cases prenatal
22-
Wder-
423 to 428
{400} 6 cases prenatal
22-
Wder-
429 to 433
{408} postnatal, 5 cases

Cases with der(22) syndrome 47,+der(22)t(8;22)(q24;q11.1~11.2)

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
22/8-
Wder-
1
male/
newborn
PBL paternal t(8;22) 47,XY,+mar[100%] der(22)t(8;22)(q24.1;q11.2)
CGH; different FISH-probes
see below {177, 294}
born at 37 weeks gestation weight 5 lbs. 5 oz.; transient jaundice in the neonatal period and failed his newborn hearing screen; right atretic ear; at 4 months, weight and occipital frontal circumference (OFC) were between the 10 and 25th centile, length 50th centile, anterior fontanel open and flat, posterior fontanel closed, no metopic ridge palpated, broad forehead, slightly upslanting palpebral fissures, long eyelashes, bulbous nasal tip, anteverted nares, micrognathia, left ear prominent, cup-shaped, low set and posteriorly rotated plus upper helical pit. No coloboma were noted. Palate normally arched, slight excess nuchal skin fold, a symmetric chest and back. A I/VI systolic murmur was appreciated. Spatulate fingers and bilateral 5th finger clinodactyly, slight tibial bowing, axial hypotonia with slight head lag and symmetric reflexes. Developmentally, consistently fixing and following and not yet rolling over, ophthalmology evaluation: high hyperopia (þ 7 OD, þ 6.5 OS), normal ocular structures and no evidence of strabismus. computed tomography: temporal bone right membranous external auditory canal (EAC) atresia. The malleolar head and short process of the incus appeared globular and mildly malformed; slight narrowing of the left EAC; left moderate hearing loss; 4-mm secundum atrial septal defect in addition to a small slightly inferior patent foramen ovale.
22/8-
Wder-
2 to 3
male and female/
18y and 29 y
PBL maternal t(8;22) 47,XY,+ der(22)t(8;22)(q24.1;q11.1)[100%]
47,XX,+ der(22)t(8;22)(q24.1;q11.1)[100%]
n.a. n.a. DD, DYS, clinodactyly {294; 296; 299}