TL

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			sSMC not well characterized
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)(pter→q10), 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
22- W- q11/ 1-2	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
22- W- q11/ 1-3	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 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 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}
22- W- q11/ 2-1	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?3→q11.1::)[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)(pter→q11.2:)	cep 14/22; wcp22; D22S75 (bcr); D22S39	see below	{109}
22- W- q11.2/ 1-1 °°°	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)(pter→q11.2:) 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)(pter→q11.2:)	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)(pter→q11.2:)	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)(pter→q11.21:) 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)(pter→q11.21: :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)(pter→q11.21: :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)(pter→q11.22:)	cep probes; ARSA; N25; TUPLE1; wcp22; subtel 22	see below	{168}
22- W- q11.22/ 1-1 °°°	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)(::p10→q11.23: :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)(pter→q12.1:) 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
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)(::p11.2→q13.3::) 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)(qter→q11.2::p11.3→q13.1:) severely MR, DYS						{239}
22- W- IMB- q13.1/ 2-1 °°°	46,XY,der(22)(pter→q13.3::q11→q13.1:) or 46,XY,der(22)(pter→q13.3::q13.3→q13.1:)					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
22- CW- 3	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}

In {411} ZAP70 gene is suggested as a 'key gene' in Emanuel syndrome.

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 from Germany; (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 from 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 from 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 from 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
22- Wder- 434 to 435	{413} prenatal, cases 11 and 27

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}
22/8- Wder- 1	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}
22/8- Wder- 4	male/ 16y	PBL	paternal t(8;22)	47,XY,+ der(22)t(8;22)(q24.1;q11.1)[100%]	n.a.	n.a.	DD, DYS, clinodactyly	{294; 297; 299}
22/8- Wder- 5 to 8	males/ 0-16y	PBL	maternal t(8;22)	47,XX,+ der(22)t(8;22)(q24.1;q11.1)[100%]	n.a.	n.a.	DD, DYS, clinodactyly	{294; 297; 299}
22/8- Wder- 9	male/ 43y	PBL	n.a.	47,XY,+der(22)t(8;22)(q24.13;q11.21)[100%]	n.a.	n.a.	DD, DYS, clinodactyly	{294; 298; 299}
22/8- Wder- 10	female/ 10y	PBL	paternal t(8;22)	47,XX,+mar[100%]	der(22)t(8;22)(q24.13;q11.21)	HR-MLPA; FISH	DD, DYS	{294; 295; 299}
22/8- Wder- 11	male/ 4y	PBL	maternal t(8;22)	47,XY,+mar[100%]	der(22)t(8;22)(q24.13;q11.21)	FISH	DD, DYS	{294; 299}
22/8- Wder- 12	male/ 6y	PBL	n.a.	47,XY,+mar[100%]	der(22)t(8;22)(q24.1;q11.2) array-data: 8q24.13-8q24.3 (125,641,226-146,250,824 MB) and 22q11q11.21 (~15,448,000-19,049171 MB)	cep probes and midi; aCGH	MR (DD) muscular hypotonia, strikingly large hands and feet	{299}; {377} case 22/8-Wder-12

Cases with cat eye syndrome (Wces)

CES - first described in 1878 {229}
CES can now be identified by help of facial diagnostic, supported by computer aid {381}
For typical signas and symptoms see {406}
There is a mouse model for CES {385}

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- Wces- 1	male/ 7y	PBL	de novo	47,XY,+mar[20]	der(22)del(q11.2)dup(q11.2)	cenM; subcenM; MCB	Cat-eye syndrome with psychomotor retardation, craniofacial dysmorphism, anal atresia and iris coloboma	{1} case 30; {377} case 22-Wces-1
22- Wces- 1a	male/ 3d	PBL	de novo	47,XY,+mar[?]	del(22)(q13.1)	Tuple1 ARSA	Cat-eye syndrome with heart malformations anal atresia and iris coloboma	{104} case 4
22- Wces- 2	female/ prenatal	AF	de novo (?)	47,XX,+mar1[12]/ 47,XX,+mar2[4]	inv dup(22)(q11.2) min(22)(:p11.1→q11.1:)	different FISH probes (D14/22Z1; D22Z75; wcp 14; wcp 22)	Cat-eye syndrome SMC and second smaller SMC detected prenatally; follow-up or parents were not available	{5} case 2
22- Wces- 3-01	female/ 1m	PBL	de novo	47,XX,+mar[20]	inv dup(22)(q11.21)	different FISH probes (D14/22Z1; cos121; wcp 22)	see below	{7} case 1 {8} case 1
22- Wces- 3-01	Cat-eye syndrome; Pregnancy and delivery uneventful. Weight 3150 g, length 53 cm, HC 36 cm, imperforate anus with recto vestibular fistula; non-rotation intestini, bilateral coloboma of the iris, retina and choroideus with microphtalmia; epicanthus, antimongoloid slant of palpebral fissures, preauricular dimples; appendages on the right side. Echography of brain suggested mild dilatation of the ventricles. There was failure to thrive. Motor development in childhood was retarded. Since age of 18, she has been blind in the right eye because of a dense cataract. Intelligence, considered to be average, was not tested
22- Wces- 3-02	female/ 1m	PBL	de novo	47,XX,+mar[20]	inv dup(22)(q11.21) aCGH: 20,247,000 MB	different FISH probes (D14/22Z1; cos121; wcp 22)	see below	{7} case 2 {0} {283} case Si-7
22- Wces- 3-02	Cat-eye syndrome; At birth weight 2500 g, length 48 cm, HC 34 cm. Imperforate anus with a recto-perineal fistula was successfully corrected. Despite a coloboma of the iris in the left eye and rudimentary coloboma on the right side, vision is not impaired; position of the eyes asymmetric, with a downward palpebral slant and epicanthic folds; preauricular dimple on the right side, agenesis of the right kidney. No other dysmorphic features; at the age of 12, height 149 cm, weight 39 kg, and canthal distances were 29 (mean) and 86 ( -2 SD) mm. Developmental milestones normal. Intelligence was normal. revealed while the left kidney was normally located and functioning. Mild hearing impairment suspected.
22- Wces- 3-03	female/ prenatal	AF	de novo	47,XX,+mar[19]/ 46,XX[1]	inv dup(22)(q11.21) aCGH: 16,925,496 MB	different FISH probes (D14/22Z1; cos121; wcp 22)	see below	{7} case 3 {0}
22- Wces- 3-03	Cat-eye syndrome; Amniocentesis due to polyhydramnion. Cesarean section 3 weeks before term: weight 2230 g, length 47 cm HC 30.5 cm. Imperforate anus; coloboma of the right iris, hypertelorism, antimongoloid palpebral fissures, preauricular appendages on both sides with dimples close to the angle of the mouth, left microtia, micrognathia, short nose, cleft palate and abnormality of the larynx. persistent vena cava superior, hypoplasia of mitral valve with hypoplasia of left atrium and ventricle, suspicion of abnormal venous return. She died at the age of 2 months. Permission for autopsy was not granted.
22- Wces- 3-04	male/ 1m	PBL	de novo	47,XY,+mar[20]	inv dup(22)(q11.21) break in 17.02MB	different FISH probes (D14/22Z1; cos121; wcp 22) aCGH	see below	{7} case 5 {0} {283} case Si-8
22- Wces- 3-04	Cat-eye syndrome; Pregnancy and de1ivery 2 weeks prior to term uneventful. APGAR score 10, birth weight 2850 g, length 49 cm, HC 38 cm; imperforate anus with recto urethral fistula, bilateral preauricular appendages . Hearing never appeared impaired. Motor and mental development have been considered normal. School performances were average. At age of 9 years height 117 cm; minor muscular hypotonia, down slanting palpebral fissures . On the right palm, there was a Simian crease.
22- Wces- 3-05	female/ 1m	PBL	de novo	47,XX,+mar[20]	inv dup(22)(q11.2)*	n.a.	see below	{13}
22- Wces- 3-05	Cat-eye syndrome; pregnancy was uneventful. Weight 3000 g, length 50 cm; HC 34cm; short neck and clavicle; flattened nasal bridge; microphtalmia, hypertelorism, bilateral coloboma of iris, epicanthus, strabismus, muscular hypotonia, low-set abnormal ears, cleft palate, down slating palpebral fissures, unilateral kidney, hydrocephalus in CT.
22- Wces- 3-06	female/ 1m	PBL	de novo	47,XX,+mar[20]	inv dup(22)(q11.21) midi aCGH: no euchromatin detected	different FISH probes (D14/22Z1; cos121; wcp 22)	see below	{7} case 6 {0}
22- Wces- 3-06	Cat-eye syndrome; pregnancy was uneventful. Shortly before term, polyhydramnion was suspected. Delivery at term was normal. Weight 2900 g, length 48 cm; respiratory failure, imperforate anus with recto vestibular fistula and progressive icterus. The facies was unremarkable except for a preauricular tag on the right side, mild micrognathia and high palate. Clinical examinations showed agenesis of the left kidney with hypertrophy of the right kidney, two small ASDs of secondary type, DAB and a cyst of the choledochus. Anal atresia and fistula were successfully operated and a hepatico-jejunostomy was performed. Postoperative care was complicated by laryngomalacia.
22- Wces- 3-07	female/ 1m	PBL	n.a.	47,XX,+mar[100%]	inv dup(22)(q11.21)	different FISH probes (D14/22Z1)	Cat-eye syndrome	{24} case 13
22- Wces- 3-08	male/ prenatal	AF	de novo	47,XY,+mar[100%]	inv dup(22)	different FISH probes (D22Z3; wcp22)	Cat-eye syndrome	{26} case 2
22- Wces- 3-09 to 3-18	male and female/ postnatal	PBL	de novo	47,+mar[100% or mosaic]	inv dup(22)	different FISH probes (D22Z3; wcp22)	Cat-eye syndrome	{30;31}
22- Wces- 3-19 to 3-21	male and female/ postnatal	PBL	de novo	47,+mar[100%]	inv dup(22)(q11.21)*	different FISH probes as specified in {36}; UPD test (cases 1 and 2)	Cat-eye syndrome	{36} cases 1-3 ; case 3 reported in {37} case 13
22- Wces- 3-22	female/ postnatal	PBL	maternal	47,XX,+mar[100%]	see below	different FISH probes as specified in {38}	Cat-eye syndrome; dies 35d after birth see below	{38} case II3 {288}
22- Wces- 3-22	sSMC was present in the mother, who had minor abnormalities in 9% of PBL (15/174), in daughter II-5, who was severely affected in 60% of PBL (62/102); and in daughter II-2, who was mildly affected in 1% of PBL (3/220). inv dup(22)(q11.21)* plus 4 or more different variants (bisatellited with two active NORs; bisatellited with one active NOR, non-satellited with one active NOR; ring chromosome without active NOR; chromosome fragments of different sizes)
22- Wces- 3-22a	2x male/ postnatal	PBL	maternal	47,XY,+mar[100%]	inv dup(22)(q11.21)*	different FISH probes	Cat-eye syndrome SMC was present in the mother, who had minor abnormalities	{260, 288}
22- Wces- 3-23	male/ postnatal	PBL	de novo	47,XY,+mar[100%]	inv dup(22)*	different FISH probes cep probes	Cat-eye syndrome	{46} case 16
22- Wces- 4	male/ 1m	PBL	de novo	47,XY,+mar[20]	inv dup(22)(:p11.1→q?ter)	different FISH probes (D14/22Z1; cos121; wcp 22)	see below	{7} case 4
22- Wces- 4	Cat-eye syndrome; In the 8th month polyhydramnion noted. Delivery near term. Weight 3620 g, length 52 cm, HC 37 cm. Failure to suck; dolichocephaly, rather small facies, down slanting palpebral fissures, low-set dysplastic ears with gross preauricular appendages, micrognathia, cleft palate, pedes adducti, stenosis of the sphincter ani with elongated sigma coli, enlarged ampulla. Developmental milestones have been within normal limits. At age of 15 months, HC 48cm with canthal distances of 33 and 83 mm, mild hypoplasia of the left mandibular arch. At the age of 9 years, his height was 130.5 cm, and HC was 53 cm. Intelligence was average.
22-Wces-5 see below
22- Wces- 5	cell line at ECACC DD0227							{21} case 10 {37} case 7 {184} case 9
22- Wces- 5-01	-							{49}
22- Wces- 5-02	-							{50}
22- Wces- 5-03	-							{51}
22- Wces- 5-04	-							{52}
22- Wces- 5-05 to 5-06	-							{53}
22- Wces- 5-07 to 5-08	-							{54}
22- Wces- 5-09	-							{56}
22- Wces- 5-10	-							{57}
22- Wces- 5-11	-							{58}
22- Wces- 5-12	-							{59}
22- Wces- 5-13	-							{60}
22- Wces- 5-14	-							{61}
22- Wces- 5-15	-							{62}
22- Wces- 5-16	-							{63}
22- Wces- 5-17	-							{64}
22- Wces- 5-18	-							{65}
22- Wces- 5-19	-							{55}
22- Wces- 5-20	-							{83}
22- Wces- 5-21	-							{84}
22- Wces- 5-22	-							{85}
22- Wces- 5-23	-							{86}
22- Wces- 5-24	-							{87} 1 case
22- Wces- 5-25	-							{88}
22- Wces- 5-26	-							{66}
22- Wces- 5-27	-							{67}
22- Wces- 5-28	-							{68}
22- Wces- 5-29	-							{69}
22- Wces- 5-30 to 5-32	-							{70}
22- Wces- 5-33	-							{71}
22- Wces- 5-34 to 5-36	-							{72}
22- Wces- 5-37								{9}
22- Wces- 5-38 to 5-48	-							{10}; cases C2 and C5 as well in {72}
22- Wces- 5-39 to 5-54	-							{11; 12} {14} {15} {16}{17} {18} {72}
22- Wces- 5-55	-							{19}
22- Wces- 5-56	-							{20}
22- Wces- 5-57 to 5-59	-							{72; 73} cases KG, OL, MS
22- Wces- 5-60	-							{74}
22- Wces- 5-61	-							{75}
22- Wces- 5-62	-							{76}
22- Wces- 5-63	-							{77}
22- Wces- 5-64	-							{78}
22- Wces- 5-65	-							{79}
22- Wces- 5-66	-							{80}
22- Wces- 5-67 to 5-69	-							{73} cases S2, S5, IG (IG and S5 in {82})
22- Wces- 5-70	-							{89}
22- Wces- 5-71	-							{90}
22- Wces- 5-72	-							{91}
22- Wces- 5-73	-							{92}
22- Wces- 5-74	-							{377} case 22-Wces-5-74
22- Wces- 5-75 to 5-83	-							{172} cases 1-9 case 2 = {178} case 22; case 3 = {178} case 33, case 7 {178} case 36; case 6 = {178} case 40 two of the cases in {194} cases 25 and 27
22- Wces- 5-84	-							{173}
22- Wces- 5-85	-							{377} case 22-Wces-5-85
22- Wces- 5-86	-							{275} case 23; {377} case 22-Wces-5-86
22- Wces- 5-87	-							{176}
22- Wces- 5-88	-							{377} case 22-Wces-5-88
22- Wces- 5-89	paternal							{179}
22- Wces- 5-90	-							{377} case 22-Wces-5-90
22- Wces- 5-91	at 9 weeks hexadactyly on right hand, dysmorphic. face, dysplastic ears, coloboma, small VSD							{377} case 22-Wces-5-91
22- Wces- 5-92	amniotic fluid; TOP; autopsy: small kidneys							{184} case 3
22- Wces- 5-93	PBL (EKF-cellbank) distal from 20.75 MB							{197} case 14; {345} case 10; {377} case 22-Wces-5-93
22- Wces- 5-94	aCGH: 0.00-19,219,660 MB							{275} case 24 {283} case Si-5; {377} case 22-Wces-5-94
******* 22- Wces- 5-95	aCGH: 0.00-17.00 MB FISH-data incl 16.2 MB							{283} case Si-6; {377} case 22-Wces-5-95
22- Wces- 5-96	-							{377} case 22-Wces-5-96
22- Wces- 5-97	-							{377} case 22-Wces-5-97
22- Wces- 5-98	-							{377} case 22-Wces-5-98
22- Wces- 5-99	-							{189}
22- Wces- 5-100	-							{377} case 22-Wces-5-100
22- Wces- 5-101	+dic(13/21;22)(13/21pter→13/21q11: :22q11.1~11.2→22q11.21~11.22: :22q11.21~11.22→22pter)							{213} case 10 {299}; {377} case 22-Wces-5-101
22- Wces- 5-102 to 5-104	-							{195} case 12, 14, 15
22- Wces- 5-105	-							{196}
22- Wces- 5-106	-							{377} case 22-Wces-5-106
22- Wces- 5-107	-							{377} case 22-Wces-5-107
22- Wces- 5-108	-							{203} case 1
******* 22- Wces- 5-109	aCGH: 0.00-17.00 MB aCGH midi: 0-17,274,894 MB							{377} case 22-Wces-5-109
22- Wces- 5-110	-							{215}
22- Wces- 5-111	-							{216} case 34
22- Wces- 5-112	PBL (EKF-cellbank) PBL: 47,XY,+mar[28]/46,XY[2]							{377} case 22-Wces-5-112
22- Wces- 5-113	-							{220}
22- Wces- 5-114	-							{377} case 22-Wces-5-114
22- Wces- 5-115 to 5-116	-							{223}
22- Wces- 5-117	-							{377} case 22-Wces-5-117
22- Wces- 5-118	-							{377} case 22-Wces-5-118
22- Wces- 5-119	-							{224} case 13
22- Wces- 5-120	midi aCGH - no euchromatin detected							{377} case 22-Wces-5-120
22- Wces- 5-121	-							{377} case 22-Wces-5-121
22- Wces- 5-122	-							{226}
22- Wces- 5-123 to 5- 125	-							{228} 3 cases
22- Wces- 5-126	-							{377} case 22-Wces-5-126
22- Wces- 5-127	aCGH: 0.00-19.78 MB (hg18, NCBI Build 36)							{377} case 22-Wces-5-127
22- Wces- 5-128 to 5-129	-							{233} 2 cases
22- Wces- 5-130	-							{275} case 25; {377} case 22-Wces-5-130
22- Wces- 5-131	-							{377} case 22-Wces-5-131
22- Wces- 5-132	-							{238} case 32875
22- Wces- 5-133	-							{243} 1 case
22- Wces- 5-134 to 5-138	-							{246} 5 cases
22- Wces- 5-139 to 5-140	mosaic							{246} 2 cases {288}
22- Wces- 5-140 to 5-141	inherited							{246} 2 cases
22- Wces- 5-142 to 5-144	-							{249} cases 21-23
22- Wces- 5-145	-							{377} case 22-Wces-5-145
22- Wces- 5-146	mar maternal, mother normal							{377} case 22-Wces-5-146
22- Wces- 5-147	-							{377} case 22-Wces-5-147
22- Wces- 5-148	-							{250} 1 case
22- Wces- 5-149 to 5-154	one mosaic and no symptoms							{251} 6 cases {288}
22- Wces- 5-155	-							{254} 1 case
22- Wces- 5-156	-							{256} 1 case
22- Wces- 5-157	-							{259}
22- Wces- 5-158	inherited to two children							{260} case 2; {263}
22- Wces- 5-159	mosaic							{377} case 22-Wces-5-159
22- Wces- 5-160	array-data: pter to 17.19 MB							{377} case 22-Wces-5-160
22- Wces- 5-161	array-data: pter to 17.04 MB							{262; 264}
22- Wces- 5-162	array-data: pter to 17.19 MB							{377} case 22-Wces-5-162
22- Wces- 5-163	-							{276} case 4
22- Wces- 5-164	-							{377} case 22-Wces-5-164
22- Wces- 5-165	-							{377} case 22-Wces-5-165
22- Wces- 5-166	-							{377} case 22-Wces-5-166
22- Wces- 5-167	array-data: pter to 17.02 MB							{377} case 22-Wces-5-167
22- Wces- 5-168	father, his 2 daughters and one son have sSMC in ~3-29% of PBL cells and 5.4-63% of buccal mucosa; father has SMC in 50% of spermatozoa array-data: pter to 18.95~19.14 MB							{267; 358}
22- Wces- 5-169	one female, one male from one family; mat							{276} cases 5-7
22- Wces- 5-170	-							{377} case 22-Wces-5-170
22- Wces- 5-171	-							{272}
22- Wces- 5-172 to 5-174	two female, one male							{276} cases 1-3
22- Wces- 5-175	almost no symptoms							{358}; {377} case 22-Wces-5-175
22- Wces- 5-176	no coloboma							{278}
22- Wces- 5-177	array-data: pter to 17.035 MB							{285}
22- Wces- 5-178	-							{377} case 22-Wces-5-178
22- Wces- 5-179	-							{287} cases 35
22- Wces- 5-180 to 182	2 cases mosaic							{290} 3 cases
22- Wces- 5-183	+inv dup(22)(q11.21→p11.2::p11.1→q11.21) array-data: pter to 18.651 MB (hg19)							{291}
22- Wces- 5-184	-							{292}
22- Wces- 5-185	-							{300} case 17
22- Wces- 5-186	-							{301}
22- Wces- 5-187	mosaic							{377} case 22-Wces-5-187
22- Wces- 5-188	-							{303}
22- Wces- 5-189	-							{304}
22- Wces- 5-190	-							{305}
22- Wces- 5-191	-							{307}
22- Wces- 5-192	patient with IUGR; patient and mother without CES-signs							{358}; {377} case 22-Wces-5-192
22- Wces- 5-193	-							{313}
22- Wces- 5-194	-							{318}
22- Wces- 5-195	-							{320} 1 case
22- Wces- 5-196	-							{377} case 22-Wces-5-196
22- Wces- 5-197	-							{377} case 22-Wces-5-197
22- Wces- 5-198	-							{324}
22- Wces- 5-199	-							{325}
22- Wces- 5-200	47,XX,+der(22)(:q12.?1→p11.2: :p11.2→q12.?1:)[20%]/46,XX[80%] 30y, normal but infertile							{358}; {377} case 22-Wces-5-200
22- Wces- 5-201	mosaic							{333; 358} mother with mosaic; two chidlren with same sSMC 100% and CES
22- Wces- 5-202	-							{377} case 22-Wces-5-202
22- Wces- 5-203	-							{377} case 22-Wces-5-203
22- Wces- 5-204	-							{327} 1 case
22- Wces- 5-205	-							{331}
22- Wces- 5-206	-							{334}
22- Wces- 5-207	-							{377} case 22-Wces-5-207
22- Wces- 5-208	- PBL (EKF-cellbank)							{377} case 22-Wces-5-208
22- Wces- 5-209	-							{342}
22- Wces- 5-210 to 5- 211	-							{377} case 22-Wces-5-210 to 211
22- Wces- 5-212	-							{346}
22- Wces- 5-213	-							{347}
22- Wces- 5-214 to 5- 216	-							{356} cases 1/1, 42/33, 55/41
22- Wces- 5-217 to 5-218	-							{357}
22- Wces- 5-219	-							{359} case 8
22- Wces- 5-220	-							{360}
22- Wces- 5-221	-							{365} case 10
22- Wces- 5-222	-							{366} case 18290
22- Wces- 5-223 to 5-226	-							{366} 4 cases
22- Wces- 5-227	-							{368}
22- Wces- 5-228	-							{369}
22- Wces- 5-229 to 5-232	-							{370} 4 cases - 1 in 371
22- Wces- 5-233	-; hg19 break in 18,628,078							{372} case P8
22- Wces- 5-234	-							{374}
22- Wces- 5-235	-							{376}
22- Wces- 5-236	-							{378} case 1
22- Wces- 5-237	hg19 break in 18,651,673							{0} provided from Germany
22- Wces- 5-238	hg19 break in 18,644,241							{382}
22- Wces- 5-239	-							{384}
22- Wces- 5-240	-							{386}
22- Wces- 5-241 to 5-242	-							{389} 2 cases
22- Wces- 5-243	-							{390}
22- Wces- 5-244	-							{393} case SJ022
22- Wces- 5-245	-							{394}
22- Wces- 5-246 to 5-247	- in one case hg19?: 18,894,894							{395}
22- Wces- 5-248	-							{396} 1 case
22- Wces- 5-249	-							{397}
22- Wces- 5-250	diagnosed as adult							{0} provided from Germany
22- Wces- 5-251	arr[GRCh37] 22q11.1q11.21(16,486,086_18,651,673)x4							{0} provided from Germany
22- Wces- 5-252	arr[GRCh37] 22q11.1q11.21(17068186_18651673)x4							{0} provided from Germany
22- Wces- 5-253	"arr[GRCh] 22q11.1q11.21(16878002e18656495) 4~5" - data unclear - most likely a cat eye marker							{401} case 16
22- Wces- 5-254	cat eye marker four copies denominated through whole paper as 'duplication'							{402}
22- Wces- 5-255	cat eye marker four copies denominated through whole paper as 'duplication'							{403}
22- Wces- 5-256	cat eye marker not demonstreated on chr- level - just '3 copies' seen by aCGH; evtl. mosaic?							{404}
22- Wces- 5-257 to 5-259	3 cases with CES							{405}
22- Wces- 5-260 to 5-302	43 CES cases - some of them aleady published - not highighted in paper by main authors							{406}
22- Wces- 5-303	1 postnatal CES case							{409} case 14
22- Wces- 5-304	1 postnatal CES case							{410}
22- Wces- 5-305 to 5-307	3 postnatal CES cases							{413} case 2, 17 and 26
22- Wces- 6-1	male/ postnatal	PBL	n.a.	47,XY,+mar[60]/ 46,XY[40]	idic r(22)(q11.1.q11.21) breakpoints in q-arm: 17.80 and 18.04Mb (hg19)	aCGH FISH	Cat-eye syndrome	{319}
22- Wces- 7-1	female/ 33y	PBL (EKF- cellbank)	n.a.	47,XX,+mar[16]/ 46,XX[185]	inv dup(22)(q11.21)	aCGH FISH	normal, but 3 fetuses with sSMC 100%	{377} case 22-Wces-7-1
22- Wces- 7-2	female/ 26y	PBL	n.a.	47,XX,+mar[7]/ 46,XX[43]	inv dup(22)(q11.21)	FISH	normal, but daughter with suspicion of syndrome	{377} case 22-Wces-7-2
22- Wces- 8-1	male/ prenatal	AF	n.a.	47,XY,+mar[9]/ 46,XY[43]	inv dup(22)(q11.21)(midi54++,D22Z1++,RP11-81B3++,RP11-1058B20+)[2]/ inv dup(22)(q11.1)(midi54++,D22Z1++,RP11-81B3-,RP11-1058B20-)[4]/ del(22)(q11.1)(midi54+,D22Z1+,RP11-81B3-, RP11-1058B20-)[2] seq[GRCh37] 22q11.1q11.21(16,050,501_18,656,659)x4, 22q11.21(18,659,489_21,351,687)x3	CMA FISH	Cat-eye syndrome ?	{0} provided from Germany

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- CES- IMB/ 1-1 to several	46,XY,dup(22)(q11.1q11.2) and similar duplications; no tetrasomy, no CES!							{206, 208-211; Review 245; 271; 306}
22- CES- IMB/ 2-1	46,XX,der(22)(pter→q11.21:q11.21→p10::p10→qter)mat							{314}
-	-	-	-	-	-	-	-	-