ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #22 -                                                 
NORMAL

Cases without clinical findings
Similar imbalances -
no sSMC

sSMC
not well characterized

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 without clinical findings (O)

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-
O-

q10/
1-1
male/
prenatal
AF maternal 47,XY,+mar[10] inv dup(22)(q10) acro-cenM;
subcenM; UPD-test
Abnormal triple test results; no ultrasound-abnormalities; child born without clinical signs; mother normal {1} case 32
22-
O-

q10/
1-2
male/
1m
PBL maternal 47,XY,+mar[100%] inv dup(22)(q10)* all available centromeric probes normal at age of 7y {28} case 39906
22-
O-

q10/
1-3
female/
prenatal
AF de novo 47,XX,+mar[6]/
46,XX[9]
PBL: 76% with mar
inv dup(22)(q10)* all available acrocentric centromeric probes AMA, child normal at age of 5.5y {29} case 2
22-
O-
q10/
1-4
to 1-5
female
and male/
prenatal
AF paternal 47,+mar[100%] inv dup(22)(q10)* all available acrocentric centromeric probes; UPD-test maternal anxiety; mother and child normal at birth {34} case 9, 10
22-
O-

q10/
1-6
female/
prenatal
AF maternal
(mar in 100%)
47,XX,+mar[100%] inv dup(22)(q10)* different FISH probes as specified in {36} AMA, child normal at birth {34} case 9, 10
22-
O-

q10/
1-7
female/
adult
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q10)
cep probes
subcenM
normal phenotype; mar detected due to autism and learning difficulties but no apparent dysmorphism in son {377} case 22-O-q10/1-7
22-
O-

q10/
1-8
male/
prenatal
AF / fibros de novo 47,XY,+mar[3]/
46,XY[7] in fibroblasts
inv dup(22)(q10)* centromeric probes; cos 121 AMA, child normal at birth and at 5y {178} case 8
22-
O-

q10/
1-9
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 AMA, child normal at birth and at 2y {178} case 24
22-
O-

q10/
1-10
male/
postnatal
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 AMA during pregnancy, father normal {178} case 7
22-
O-

q10/
1-11
male /
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 AMA, father and child normal {178} case 18
22-
O-

q10/
1-12
male
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 AMA, father and child normal {178} case 20
22-
O-

q10/
1-13
male/
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 AMA, father and child normal {178} case 28
22-
O-

q10/
1-14
female/
adult
PBL n.a. 47,XX,+mar[10%]; in oocytes 40% inv dup(22)(q10) cenM, acrocenM, subcenM proband clinically normal; first child of patient with maternal marker died after birth {377} case 22-O-q10/1-14
22-
O-

q10/
1-15
female/
30y
PBL n.a. 47,XX,+mar[22]/
46,XX[28]
inv dup(22)(q10) acrocenM, subcenM normal female {377} case 22-O-q10/1-15
22-
O-

q10/
1-16
female/
prenatal
AF maternal 47,XX,+mar[100%] inv dup(22)(q10) ceps, aCGH mother normal female, AMA; child normal {255}
22-
O-

q10/
1-17
male/
41y
PBL n.a.
47,XY,+mar[100%] inv dup(22)(q10) ceps, subcenM
normal, infertile
{0} provided from Hildesheim, Germany
22-
O-

q11/
1-1

female/
29y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11) all available acrocentric centromeric probes infertility {34} case 11
{212} case 100
{321} case 22-1
22-
O-

q11/
1-2
female/
prenatal
AF maternal 47,XX,+mar[10] inv dup(22)(q11) all available acrocentric centromeric probes AMA; mother without clinical signs; Child normal at birth {34} case 12
22-
O-

q11/
1-3
male/
prenatal
AF de novo 47,XY,+mar[11]/
46,XY[1]
inv dup(22)(q11)* midi, cen14/22; cen22; 22q11.2 specific probes Amniocentesis due to anxiety; child normal at birth and at age of 1y {105}
22-
O-

q11/
1-4
to 1-7
2x male,
2x female/
prenatal
AF 2x paternal, 1x maternal; 1x n.a. 47,+mar[100%] inv dup(22)(q11) cep and MLPA parents with sSMC normal, AMA or cleft palate were reason for cytogenetics {249} cases 26-29
22-
O-

q11/
2-1
female/
1y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[11]/
46,XX[39]
min(22)(:p11.1q11:)
maternal UPD 22
cenM; UPD-test (also for #14) child born without any clinical signs; in placenta and umbilical cord material mosaic of 46,XX/47,XX+22/47,XX+mar {6, 288}; {377} case 22-O-q11/2-1
22-
O-

q11/
2-2
female/
1m
PBL de novo 47,XX,+mar[100%] min(22)(:p11.1q11:)* all available centromeric probes normal at age of 8y {28} case 36319
22-
O-

q11/
3-1
see 22-Uc-1
22-
O-

q11.1/
1-1
female/
prenatal
AF de novo 47,XX,+mar[10]
Postnatal: 47,XX,
+mar[13]/
46,XX[17]
inv dup(22)(q11.1) cenM;
subcenM
see below {1} case 31;
{377} case 22-O-q11.1/1-1
AMA; child born with no dysmorphic sings and normal psychomotor development At At 6m VSD detected and corrected by surgery; 5y: still normal psychomotor development
22-
O-

q11.1/
1-2
female/
3m
PBL de novo 47,XX,+mar[15] inv dup(22)(q11.1) cenM;
subcenM
AMA; no ultrasound abnormalities; child born with no dysmorphic sings {181} case 22-9;
{377} case 22-O-q11.1/1-2
22-
O-

q11.1/
1-3
male/
prenatal
AF n.a. 47,XY,+mar[30%]/
46,XY[70%]
inv dup(22)(q11.1) centromeric probes, subcenM; UPD-test (also #14) Twin pregnancy - normal child born; at 3 months child normal {377} case 22-O-q11.1/1-3
22-
O-

q11.1/
1-4
male/
prenatal
AF n.a. 47,XY,+mar[12]/
46,XY[16]

inv dup(22)(q11.1)
centromeric probes, subcenM AMA, child born; length: 55cm; OFC: 36cm; weight 3620g, APGAR 9/10/10; at 7 days child normal; no further information available {377} case 22-O-q11.1/1-4
22-
O-

q11.1/
1-5
male/
8m
PBL mat 47,XY,+mar[100%] inv dup(22)(q11.1)
in array no imbalance detected
acrocenM subcenM, aCGH; UPD-test see below {283} case Si-4;
{377} case 22-O-q11.1/1-5
In ultrasound in 8m prenatal hydrocephalus with enlarged ventricles, birth in week 36 by sectio: bw: 2800g, length 50cm, OFC 34cm - all values normal; MRT revealed agenesis of corpus callosum; muscular hypotonia; at age of 7 years growth values normal.
22-
O-

q11.1/
1-6
female/
32y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM Normal female, infertility {212} case 101
{321} case 22-2;

{377} case 22-O-q11.1/1-6
22-
O-

q11.1/
1-7
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM; UPD-test AMA, normal female child born. Normal at 5 years. ; normal with 12 y; since age of 8y diabetes mellitus type 1 {377} case 22-O-q11.1/1-7
22-
O-

q11.1/
1-8
male/
28y
PBL n.a. 47,XY,+mar[64% or 81%]/
46,XY[36% or 19%]
inv dup(22)(q11.1) cep probes subcenM normal male - repeated abortions in female partner {212} case 102
{321} case 22-3;

{377} case 22-O-q11.1/1-8
22-
O-

q11.1/
1-9
female/
30y
PBL maternal 47,XX,+mar[60]/
46,XX[2]
inv dup(22)(q11.1) cep probes subcenM normal female - mar detected in developmentally retarded nephew {377} case 22-O-q11.1/1-9
22-
O-

q11.1/
1-10
female/
24y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM normal female - infertility {212} case 103
{321} case 22-4;

{377} case 22-O-q11.1/1-10
22-
O-

q11.1/
1-11
female/
32y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cenM subcenM normal female - dwarphism {377} case 22-O-q11.1/1-11
22-
O-

q11.1/
1-12
female/
27y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female {216} case 33;
{377} case 22-O-q11.1/1-12
22-
O-

q11.1/
1-13
male/
35y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal male, infertility
{321} case 22-5;
{377} case 22-O-q11.1/1-13
22-
O-

q11.1/
1-14
male/
prenatal
AFPBL
(EKF-
cellbank)
paternal 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal child born, father normal {377} case 22-O-q11.1/1-14
22-
O-

q11.1/
1-15
female/
adult
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal - mar detected as transmitted to a son with micropenis {377} case 22-O-q11.1/1-15
22-
O-

q11.1/
1-16
female/
adult
PBL n.a. 47,XX,inv(2)(q13q36),
+mar[100%]
inv dup(22)(q11.1) cenM subcenM normal female, niece has chromosome changes (inv 2) {377} case 22-O-q11.1/1-16
22-
O-

q11.1/
1-17
male/
40y
  PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal, infertility {247} case 15
{321} case 22-6;

{377} case 22-O-q11.1/1-17
22-
O-

q11.1/
1-18
male/
prenatal
AF n.a. 47,XY,+mar[6]/
46,XY[4]
inv dup(22)(q11.1) acrocenM subcenM AMA, normal child born {377} case 22-O-q11.1/1-18
22-
O-

q11.1/
1-19
female/
prenatal
AF paternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM AMA; normal child born. father normal {377} case 22-O-q11.1/1-19
22-
O-

q11.1/
1-20
n.a./
postnatal
PBL n.a. 47,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM infertility {321} case 22-7;
{377} case 22-O-q11.1/1-20
22-
O-

q11.1/
1-21
female/
32y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, due to pregnancy loss chr. analysis {321} case 22-8;
{377} case 22-O-q11.1/1-21
22-
O-

q11.1/
1-22
female/
adult
PBL
(EKF-
cellbank)
maternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, mother normal as well; abortions in both of them {321} case 22-9;
{377} case 22-O-q11.1/1-22
22-
O-

q11.1/
1-23
male/
prenatal
PBL
(EKF-
cellbank)
maternal 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM; UPD-test AMA, mother normal {377} case 22-O-q11.1/1-23
22-
O-

q11.1/
1-24
female/
20y
PBL paternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, sSMC familial - no clinical signs in aunts and cousin or father {377} case 22-O-q11.1/1-24
22-
O-

q11.1/
1-25
male/
2y
PBL maternal
and grand-
paternal
47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM developmental retardation and dysmorphic features - no clinical signs in mother and grandfather, child with FRA-X {235};
{377} case 22-O-q11.1/1-25
22-
O-

q11.1/
1-26
male/
prenatal
AF n.a. 47,XY,+mar[50%]/
46,XY[50%]
inv dup(22)(q11.1) acrocenM subcenM AMA; normal child born; normal at 3 years {377} case 22-O-q11.1/1-26
22-
O-

q11.1/
1-27
female/
39y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM normal, repeated abortions {321} case 22-10;
{377} case 22-O-q11.1/1-27
22-
O-

q11.1/
1-28
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep probes subcenM AMA (sonography normal), normal child born {377} case 22-O-q11.1/1-28
22-
O-

q11.1/
1-29
female/
29y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1)
array-CGH: 15476855
MB -16042396 MB
aCGH normal woman, detected due to microdeletion 21q22.3 in daughter {377} case 22-O-q11.1/1-29
22-
O-

q11.1/
1-30
female/
32y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, infertility {321} case 22-11;
{377} case 22-O-q11.1/1-30
22-
O-

q11.1/
1-31
male/
prenatal
AF, PBL
(EKF-
cellbank)
mat 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM AMA, father normal {377} case 22-O-q11.1/1-31
22-
O-

q11.1/
1-32
male/
prenatal
AF n.a. 47,XY,+mar[35]/
46,XY[65]
inv dup(22)(q11.1) SKY sonography normal {236}
22-
O-

q11.1/
1-33
male/
newborn
AF, PBL
(EKF-
cellbank)
mat 47,XY,+mar[100%] inv dup(22)(q11.1) cenM child normal, mother normal female, but before chthis child repeated abortions {321} case 22-12;
{377} case 22-O-q11.1/1-33
22-
O-

q11.1/
1-34
male/
40y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) ceps; subcenM normal male, ICSI {321} case 22-13;
{377} case 22-O-q11.1/1-34
22-
O-

q11.1/
1-35
male/
40y
PBL n.a. 47,XY,+mar[97%] - 3% with 47,XY,+21 or trob(14;21) inv dup(22)(q11.1) ceps normal male with hypogonadotropic hypogonadism {258}
{321} case 22-14
22-
O-

q11.1/
1-36
male/
adult
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
inv dup(22)(q11.1) ceps, subcenM normal male; detected due to son with MR and 47,XY,t(5;9)(q33.1;p13),+inv dup(22)(q11.1) {377} case 22-O-q11.1/1-36
22-
O-

q11.1/
1-37
male/
prenatal
AF mat 47,XY,+mar[100%] inv dup(22)(q11.1) ceps, subcenM mother normal female; pregnancy lost during follow up {282} case 1;
{377} case 22-O-q11.1/1-37
22-
O-

q11.1/
1-38
male/
36y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) ceps, subcenM normal male, IVF-patient {321} case 22-15,
{377} case 22-O-q11.1/1-38
22-
O-

q11.1/
1-39
male/
36y
PBL/
sperm
pat 47,XY,+mar[100%]
sSMC in sperm in 15.6% of the cells
inv dup(22)(q11.1) cep probes normal male; asthenozoospermia {277}
{321} case 22-16
22-
O-
q11.1/
1-40
male/
prenatal
AF pat 47,XY,+mar[100%] inv dup(22)(q11.1) cep probes father normal male {278}
22-
O-
q11.1/
1-41
male/
36y
PBL pat 47,XY,+mar[100%] inv dup(22)(q11.1) cep-probes father and male himself normal male {281}
22-
O-
q11.1/
1-42
female/
adult
PBL n.a. 47,XX,+mar[?100%] inv dup(22)(q11.1) ceps, subcenM dected due to karyotyp in unborn child as: 47,XX,t(11;22)(q23;q11.2)pat,+inv dup(22)(q11.1)mat[100%] {377} case 22-O-q11.1/1-42
22-
O-
q11.1/
1-43
female/
prenatal
AF mat 47,XX,+mar[100%] inv dup(22)(q11.1) ceps, subcenM normal mother {377} case 22-O-q11.1/1-43
22-
O-
q11.1/
1-44
male/
38y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM,
subcenM
normal male, infertility {321} case 22-17;
{377} case 22-O-q11.1/1-44
22-
O-
q11.1/
1-45
n.a./
prenatal
AF mat 47,XN,+mar[100%] inv dup(22)(q11.1) acrocenM,
subcenM
normal mother {377} case 22-O-q11.1/1-45
22-
O-
q11.1/
1-46
n.a./
prenatal
AF de novo 47,XN,+mar[?%] inv dup(22)(q11.1) n.a. normal child born {289; 317} case 3
22-
O-
q11.1/
1-47 to 1-48
n.a./
postnatal
PBL n.a. 47,XN,+mar[?%]/
46,XN[?%]
inv dup(22)(q11.1) n.a. normal {290} 2 cases
22-
O-
q11.1/
1-49 to 1-54
n.a./
postnatal
PBL n.a. 47,XN,+mar[100%] inv dup(22)(q11.1) n.a. normal {290} 6 cases
22-
O-
q11.1/
1-55
n.a./
postnatal
PBL n.a. 47,XN,+mar[100%] inv dup(22)(q11.1) subcenM normal {302} case 1
22-
O-
q11.1/
1-56
male/
42y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal but infertile {321} case 22-18;
{377} case 22-O-q11.1/1-56
22-
O-
q11.1/
1-57
male/
39y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal but infertile {321} case 22-19;
{377} case 22-O-q11.1/1-57
22-
O-
q11.1/
1-58
female/
34y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal {377} case 22-O-q11.1/1-58
22-
O-
q11.1/
1-59
male/
adult
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1)
in aCGH dup in 15q11.2
aCGH
FISH
normal but infertile {312}
{321} case 22-20
22-
O-
q11.1/
1-60
n.a./
postnatal
PBL familial 47,XN,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal {377} case 22-O-q11.1/1-60
22-
O-
q11.1/
1-61
female/
33y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal but infertile {377} case 22-O-q11.1/1-61
22-
O-
q11.1/
1-62
male/
37y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM normal male; previous child with Down syndrome {377} case 22-O-q11.1/1-62
22-
O-
q11.1/
1-63
female/
prenatal
AF pat 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM father normal {377} case 22-O-q11.1/1-63
22-
O-
q11.1/
1-64
female/
prenatal
AF pat 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM
father normal