ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #22 -                                                 
UNCLEAR

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
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 unclear clinical correlation (U)

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-
U-
1		 female/
prenatal		 AF de novo 47,XX,+mar[20] inv dup(22)(q11.1) M-FISH;
cenM		 AMA; no ultrasound abnormalities; TOP {4} case 12;
{377} case 22-U-1
22-
U-
2
 female/
prenatal		 AF paternal; (mar in 2/50 mitosis) 47,XX,+mar[6]/
46,XX[35]		 inv dup(22)(q11.2)
[cep22+,cep14/22+,
Midi54+,bK115F6+]/
der(22)(:p11.1→q11.1:) [cep22+,cep14/22-]/
der(22)(:p11.1q11.1:)
[cep22+,cep14/22+]		 acro M;
cenM		 AMA; no ultrasound abnormalities; TOP {1} case 33;
{377} case 22-U-2
22-
U-
3		 female/
n.a.		 PBL n.a. 47,XX,r(22),
+mar [100%]		 mar(22) RP11-760F7+,
RP11-441P22+(22q11)		 RxFISH;
centromeric + centromere-near probes in 22q11		 DD, autism, clinodactyly {25} case 7
22-
U-
4		 see 15-U-6
22-
U-
5		 female/
prenatal		 AF de novo 47,XX,mar [100%] inv dup(22) all available centromeric probes AMA; TOP; presence of mar confirmed in fetus; in necropsy the fetus appeared normal {37} case 13
22-
U-
6		 see 22-Uc-4
22-
U-
7
 see 22-Uc-5
22-
U-
8		 male/
prenatal		 n.a. n.a. 47,XY,+mar[mos] inv dup(22) SKY TOP {167}
22-
U-
9
 female/
'young girl'		 PBL n.a. PBL fis(22)(::q10→q13.3::)
fis(22)(::p13→p10::)
both ring chromosomes		 diff. FISH-probes dysmorphic and intellectual disability {171} case 1
22-
U-
10		 female/
prenatal		 AF de novo 47,XX,+mar[~15%] min(22)(:p11.1→q11.1).(D22Z4+;D14/22Z1-) cenM, subcenM ongoing pregnancy, ultrasound normal {175};
{377} case 22-U-10
22-
U-
11 to 11j		 see 22/8-Wder-1 to 12
22-
U-
12		 female/
prenatal		 AF de novo 47,XX,+mar[100%] r(22)(:p11→q11.2) centromeric probes; cos 121 AMA, TOP, no further information available {178} case 9
22-
U-
13		 see +21-U-30
22-
U-
14		 n.a./
prenatal		 AF de novo 47,+mar[10%] inv dup(22)(q12~13)* centromeric probes; wcp21 AMA, TOP, no further information available {183} case 10
22-
U-
15		 n.a./
prenatal		 AF paternal (?)
5/150 with mar		 47,+mar[40%]/
46[60%]		 inv dup(22)(q10) cenM, subcenM AMA, TOP, no further information available {377} case 22-U-15
22-
U-
16		 female/
prenatal		 AF n.a. 47,XX,+mar[25%]/
46,XX[75%]		 inv dup(22)(q10) cenM, subcenM   AMA, patient lost during follow-up {377} case 22-U-16
22-
U-
17		 female/
n.a.		 n.a. de novo 47,XX,+mar[100%] mar(22) wcp22 no info available {186} case 22
22-
U-
18		 see 22-Uc-6
22-
U-
18a		 see 22-Uc-7
22-
U-
19 to 30		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(22) n.a. no info available {193} 12 cases
22-
U-
31 to 32		 n.a./
prenatal		 AF n.a. 47,+mar[?%] mar(22) SKY no info available {202} 2 new cases
22-
U-
33		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] inv dup(22) midi no info available {204} 1 case
22-
U-
34		 n.a./
n.a.		 n.a. n.a. 47,+mar[?%] mar(22) wcp probes no info available {217} 1 case
22-
U-
35		 female/
prenatal		 AF n.a. 47,XX,der(22q),+mar)/
46,XX,der(22q)		 min(22)(p11.1q11.1) acrocenM; subcenM no info available {216} case 35;
{377} case 22-U-35
22-
U-
36		 female/
1y		 PBL de novo 47,XX,+mar mar(22) n.a. Klippel-Feil syndrome {219}
22-
U-
37		 see +21-U-31
22-
U-
38		 female/
prenatal		 AF n.a. 47,XX,+mar[50%]/
46,XX[50%]		 min(22)(:p11.1→q11.23:) cenM;
subcenM		 AMA, TOP, no further information available {377} case 22-U-38
22-
U-
39		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM n.a. {377} case 22-U-39
22-
U-
40		 see 15-P-5
22-
U-
41		 male/
1y		 PBL mat
mother has SMC up to 3 times		 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM boy and mother with heart problems {377} case 22-U-41
22-
U-
42		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) n.a. normal male with secondary hypogonadism {237}
22-
U-
43		 see 22-Uc-8
22-
U-
44		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM AMA, no further information available {377} case 22-U-44
22-
U-
45		 male/
prenatal		 AF n.a. 47,XY,+mar[35%]/
46,XY[65%]		 inv dup(22)(q11.1) acrocenM; subcenM AMA, no further information available {377} case 22-U-45
22-
U-
46		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM AMA, no further information available {377} case 22-U-46
22-
U-
46a		 female/
prenatal		 AF n.a. 47,XX+mar[59]/
46,XX[41]		 inv dup(22)(q11.1) acrocenM; subcenM no further information available {377} case 22-U-46a
22-
U-
46b		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM AMA,
no information available		 {377} case 22-U-46b
22-
U-
47		 female/
prenatal		 AF n.a. 47,XX,+mar[95%]/
46,XX[5%]		 min(:p1?3→q11.1:)[6]/
r(22)(::p1?3→q11.1::)[4]		 ceps; subcenM AMA,
no information available		 {377} case 22-U-47
22-
U-
48		 n.a./
prenatal		 AF n.a. 47,+mar[?%]/
46[?%]		 der(22)(:q11.1→p11.2:
:p11.2→q11.1:)		 cenM; subcenM; UPD-test n.a. {377} case 22-U-48
22-
U-
49		 n.a./
prenatal		 AF n.a. 47,+mar[?%]/
46[?%]		 min(22)(pter→q11.21:) cenM; subcenM; UPD-test n.a. {377} case 22-U-49
22-
U-
50		 see 22-Uc-9
22-
U-
51		 see 22-U-11j
22-
U-
52		 male/
35y		 PBL n.a. 47,XY,+mar[100%] min(22) SKY unspec. anterior pituitary hyperfunction, chronic lymphocytosis, throiditis, hirsutism, celiac disease, iron metabolism disease {266} case F0535997
22-
U-
53		 female/
27y		 PBL n.a. 47,XX,+mar[100%] inv dup(22) SKY found due to neutropenia and anemia in bonemarrow and confirmed in PBL {266} case F0560040
{299}
22-
U-
53a		 see 22-Uc-10
22-
U-
54		 see +13-22-1 {0} provided from Neu-Ulm, Germany
22-
U-
55		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acro-cenM; subcenM abnormal sonography, patient lost during follow-up {282} case 3;
{377} case 22-U-55
22-
U-
56		 female/
prenatal		 AF de novo 47,XX,+mar[100%] min(22)(pter→q13.?1:) acro-cenM; subcenM AMA and egg donation- normal sonography; TOP {377} case 22-U-56
22-
U-
57 		see 22-Uc-11
22-
U-
58 to 60		 female/
prenatal		 AF n.a. 47,XX,+mar mar(22) - diff aCGH results aCGH n.a. {287} cases 33, 34, 36
22-
U-
61		 male/
prenatal		 AF n.a. 47,XX,+mar inv dup(22)(q11.1)
with euchromatin		 subcenM n.a. {302} case 3
22-
U-
62		 male/
prenatal		 AF n.a. 47,XY,+mar[80%]/
46,XY[20%]		 inv dup(22)(q11.1) acrocenM; subcenM AMA; no info available {377} case 22-U-62
22-
U-
63		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM AMA; no info available {377} case 22-U-63
22-
U-
64 		see 22-Uc-12
22-
U-
65 		see 22-Uc-13
22-
U-
66 		see 22-Uc-14
22-
U-
67 		see 22-Uc-15
22-
U-
68		 see 22-Uc-16
22-
U-
69		 n.a./
postnatal		 n.a. n.a. 47,XN,+mar mar(22) n.a. abnormal {332}
22-
U-
70		 n.a./
n.a.		 n.a. n.a. n.a. inv dup(22) cep probes
M-FISH		 n.a. {336} case 7
22-
U-
71		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(22)(q11.1) acro-cenM
subcenM		 n.a. {377} case 22-U-71
22-
U-
72		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acro-cenM
subcenM
UPD test		 AMA {377} case 22-U-72
22-
U-
73		 female/
prenatal		 AF n.a. 47,XX,+mar[50%]/
46,XX[50%]		 min(22)(:p11.2→q11.1:) cep probes; subcenM heterotaxia
syndrome		 {377} case 22-U-73
22-
U-
74		 male/
prenatal		 CH
AF		 n.a. 47,XY,+mar[24]/
46,XY[7]
in AF 100%		 inv dup(22)(q11.1) cep probes; subcenM twin pregnancy; sSMC only in one twin {377} case 22-U-74
22-
U-
75		 female/
prenatal		 AF n.a. 47,XX,+mar[6]/
46,XX[15]		 inv dup(22)(q11.1) cep probes; subcenM; aCGH n.a. {377} case 22-U-75
22-
U-
76		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM AMA {377} case 22-U-76
22-
U-
77		 male/
prenatal		 AF n.a. 47,XY,+mar[4]/
46,XY[16] 		der(22)(:p11.2→q11.1:
:q11.1→p11.2:)		 acrocenM; subcenM n.a. {377} case 22-U-77
22-
U-
78		 male/
prenatal		 CH n.a. 47,XY,+mar[46%]/
46,XY[54%] 		der(22)(:p11.2→q10:) cenM;
subcenM		 n.a. {377} case 22-U-78
22-
U-
79		 male/
prenatal		 AF n.a. 47,XY,+mar[7]/
46,XY[9] 		inv dup(22)(q11.1) cep;
subcenM		 heart defect and enhanced NT; inrtauterine death {377} case 22-U-79
22-
U-
80		 male/
postnatal		 PBL n.a. 48,XY,+marx2[1]/
47,XY,+mar[5]/46,XY[1]		 inv dup(22)(q11.1) cep;
subcenM		 facial DYS, failure to thrive, heart defect {377} case 22-U-80
22-
U-
81		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(22)(pter→q11.2)
aCGH (hg19)
breakat 18.64 Mb
gain of copy numbers given as x3 - so no (!) cat eye syndrome (!)		 aCGH AMA; TOP {339}
22-
U-
82		 see 22-Uu-1
22-
U-
83		 see 22-Uc-17
22-
U-
84		 hermaphrodite/
newborn		 PBL de novo 46,X,+mar/46,XY min(22)(pter→q11.1:) M-FISH, cep hermaphrodite {279}
22-
U-
85		 female/
prenatal		 Ch
 de novo 47,XX,+mar[22]/
46,XX[10]
inv dup(22)(q11.1)  cep, subcenM
 enhanced nuchal translucency
{377} case 22-U-85
22-
U-
86		 male/
prenatal		 Ch
 n.a. 47,XY,+mar[~50%]/
46,XY[~50%]
 min(22)(:p11.1→q11.21:)  cep, subcenM
 n.a.
{377} case 22-U-86
22-
U-
87		 male/
prenatal		 AF n.a. 48,XY,+mar,+mar[?%]/
47,XY,+mar[?%]/46,XY[?%]		 inv dup(22)(q11.1) cep;
subcenM		 n.a.
{377} case 22-U-87
22-
U-
88		 male/
prenatal		 AF n.a. 47,XY,+mar[52]/
46,XY[36]		 min(22)(:p11.1->q11.21:)(midi54-,D14/22Z1+,
RP11-172D7+,RP11-332N6-)		 cep;
subcenM		 AMA
 {0} provided from Nürnberg, Germany
22-
U-
89		 female/
15y
 PBL n.a. 47,XX,+mar1[16]/ 48,XX,+mar1x2[2]/ 47,XX,+mar2[1]/ 48,XX,+mar2x2[1]/ 46,XX[30]] inv dup(22)(q11.1)
arr - no CNV
 cep;
subcenM; aCGH
 short stature, VSD and conductive hearing loss
 {0} provided from Aachen, Germany

Cases with complex sSMC (Uc)

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-
Uc-
1
(14)		 female/
n.a.		 PBL maternal
46,XX,
t(14;22)(q31;q11)		 47,XX,+der(22)
t(14;22)(q31;q11)
[100%]		 n.a. n.a. normal apart from strabismus {81; 299}
22-
Uc-
2
(21)		 n.a./
n.a.		 PBL n.a.
46,tROB(21;22),
+mar[100%]		 der(22)t(21;22)
(p11.2;q11.1)*		 centromeric probes for 13/21 and 14/22 normal {45} case 1
22-
Uc-
3
(17)		 male/
35y		 PBL paternal
t(17;22)		 47,XY,+mar[100%] der(22)t(17;22)(p13.3;q11.21) several locus specific probes as listed in {201} and MLPA detected due to familial antecedents of MR (paternal uncle) {201; 299}
22-
Uc-
4
(17)		 male/
2.5y		 PBL maternal 46,XX,
t(17;22) (p10;q10)
de novo		 47,XY,+der(22),t(17;22)
(17pter→p10;22q10-pter)
[100%]		 n.a. n.a. uneventful pregnancy and development until 29m; At 29m up to 69m height at 97. centile, dolichocephaly, narrow head and face {48; 299};
22-
Uc-
5
(21)		 male/
prenatal		 AF de novo
maternal karyotype 45,XX,
der(21;22)
(p11;p11) de novo		 46,XY,der(21;22)(p11;p11),+mar[21]/
45,XY,der(21;22)(p11;p11)[81]
mar in 3/10 skin cells		 46 chrs:
der(21;22) = der(22)t(21;22) (21qter→21p11:
:22q11.2→22qter),
mar = min(22)(p11→q11.2)
45 chrs:
der(21;22) = der(21;22)(p11;p11)*
wcp21, wcp22, specific probes for CATCH22-region in 22q11; ARSA probe in 22q13		 AMA; ultrasound normal at19.5 weeks of gestation; TOP, presence of mar confirmed in fetus; in necropsy the fetus appeared normal apart from low thymus weight (0.1g instead of 0.4g)
similar cases in {41}
 {40}
22-
Uc-
6
(12)		 male/
1d		 PBL de novo 47,XY,+mar[100%] der(22)t(12;22)
(p12;q11.2-12)		 SKY; TEL and DGCR probe cleft palate, pterygium colli, cardiopathy, cerebral cists, died at 1 day of live {163} case 14
{299}
22-
Uc-
7
(12)		 male/
1d		 PBL mat 47,XY,+der(22)t(12;22)(p13.3;q12)[100%]* n.a. n.a. multiple malformations {265; 299}
22-
Uc-
8
(8)		 male/
6y		 PBL maternal translocation present 47,XY,+mar[100%] der(22)t(8;22)(p22;q11.21) FISH and aCGH MR {241; 299}
22-
Uc-
9
(19)		 male/
5y		 PBL n.a. 47,XY,+mar[100%] der(22)t(19;22)(q13.42;q11.1)
array-data: 3.66 MB on 19qter and 0.3 MB on 22q11.1 present (pos. 15.99)		 diff. FISH probes; aCGH global DD, autism. generalized brief tremor with peripheral cyanosis {264} case 3;
{299}
22-
Uc-
10
(6)		 female/
prenatal		 AF n.a. (potentially parental) 47,XX,+mar[100%] ?der(22)t(6;22)(p22.1;q11.21) aCGH prenatally detected; TOP {269} case 9
22-
Uc-
11
(9)		 male/
10y		 PBL maternal
balanced transloc.		 47,XY,+mar[100%] min(22)t(9;22)(p13.1;q11)
aCGH: 9p: break at 33.9 Mb; break in 22: 18.18 Mb		 cep; aCGH slight dysmorphism, no MR {284; 299}
22-
Uc-
12
(15)		 female/
postnatal		 PBL n.a. 47,XX,+mar[100%] der(22)t(15;22)(q26.1;q11.2) n.a. DD, MR {315}
22-
Uc-
13
(16)		 female/
newborn		 PBL maternal bal. translocation 47,XX,+mar[100%]
der(22)t(16;22)(p13.1;q11.2)		 n.a. DD, MR, heart defect {316}
22-
Uc-
14
(7)		 female/
prenatal		 PBL n.a. 47,XX,+mar[100%] der(22)t(7;22)(p15.3;q11.2) M-FISH (wcps) abortus {377} case 22-Uc-14 (7)
22-
Uc-
15
(7)		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] der(22)t(7;22)(p11.2;q11.1) cep, M-FISH abortus {377} case 22-Uc-15 (7)
22-
Uc-
16
(9)		 male/
prenatal		 CVS maternal
balanced transloc.		 47,XY,+mar der(22)t(9;22)
(p13;q11.2)		 NIPT,
sequencing		 prenatal {326}
22-
Uc-
17
(11/20)		 male/
postnatal		 PBL n.a. 47,XY,+mar[100%] see below aCGH see below {344} case P17
DD, partial diaphragmatic hernia, mild tachypnea, malrotation, laryngomalacia, pre-auricular tags, microcephaly,
plagiocephaly, high palate, mild micorgnathia, poor head control, overlapping toes
arr11q23.3q25 (116,186,822–134,444,816)x3, arr20p12.2 (11,232,997–11,870,134)x3,arr22q11.1q11.21 (14,434,579–18,691,906)x3
no FISH done - possible a der(22) wih involvement of 3 chrs. or another add. imbalance in normal chromsome content
22-
Uc-
18
(3) 		male/
6m		 PBL paternal
balanced transloc.; also present in whole family 		47,XY,+mar[100%] der(22)t(3;22)(q28;q13.3) aCGH; FISH DYS, DD
 {354}
22-
Uc-
19
(4) 		female/
18y		 PBL maternal
balanced transloc.; t(4;22) 		47,XX,+mar[100%] der(22)t(4;22)(p15.2;q11.2) n.a. DYS, DD, MR
 {362}
22-
Uc-
20
(X) 		male/
26y		 PBL maternal
balanced transloc.; t(X;22) 		47,XY,+mar[100%] der(22)t(X;22)(p22.3;q11.23) aCGH genital retardation with cryptorchidism
 {383}
22-
Uc-
21
(20) 		male/
4y		 PBL maternal
balanced transloc.; t(20;22) 		47,XY,+mar[100%] der(22)t(20;22)(q13;q11.2) FISH, aCGH DYS, DD {392}
22-
Uc-
22
(19)		 female/
3m
 PBL maternal
balanced transloc.; t(19;22)		 47,XYX+mar[100%] der(22)t(19;22)(q13.33;q11.21)
array-data: 48.5 MB on 19qter and 17,5 MB on 22q11.1 (hg19)
 diff. FISH probes; aCGH DD, DYS
 {0} provided from Heidelberg, Germany

Cases with discontinous sSMC (Ud)

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-
Ud-
1 		female/
newborn 		PBL n.a. 47,XX,+mar[20] del(22)(pter→q11.21:
:q13.31→qter) 		aCGH; FISH acc. to {205} low birth weight, hydrocephalus, possible partial agenesis of the corpus callosum, preauricular pits, and total anomalous pulmonary venous return {205} case 3
22-
Ud-
2
 		male/
prenatal 		AF de novo 47,XY,+mar[100%] der(22)(pter→q11.21:
:q11.23→q1?21:
:q11.1→pter)		 midi, subcenM; CES BACs AMA - normal in sonography apart from little cysts at the neck, spontaneous intrauterine death {377} case 22-Ud-2

Cases with UPD (Uu)

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-
Uu-
1 		n.a./
prenatal 		AF n.a. 47,XN,+mar[?100%} mar(22)
UPD(22)pat 		aCGH DD, DYS, TOP {340} case 1
22-
Uu-
2
 		male/
prenatal 		AF de novo 47,XY,+mar[100%} inv dup(22)(q12.1)
UPD(22)
arr(hg19):
break im 27,421,632
 		aCGH in NIPT +22, TOP {365} case 11