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)(::q10q13.3::)
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)(:p11.1q11.1).(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)(:p11q11.2) 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)(:p11.1q11.23:) 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?3q11.1:)[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)(:q11.1p11.2:
: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)(pterq11.21:) 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)(pterq13.?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)(pterq11.1:) 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)(:p11.1q11.21:)  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