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 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)(:p11.1→q11:)
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)(:p11.1→q11:)* 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		 AF,  PBL
(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		 {377} case 22-O-q11.1/1-64
22-
O-
q11.1/
1-65		 male/
prenatal		 AF mat 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM mother normal {377} case 22-O-q11.1/1-65
22-
O-
q11.1/
1-66		 female/
37y		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM infertile, otherwise normal {377} case 22-O-q11.1/1-66
22-
O-
q11.1/
1-67		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) SKY; subcenM normal female; gave sSMC to two daughters, one with UPD(15)(pat) {328}
22-
O-
q11.1/
1-68		 female/
prenatal		 AF n.a. 47,XX,+mar[14]/
46,XX[9]		 inv dup(22)(q11.1) acrocenM; subcenM normal child born {377} case 22-O-q11.1/1-68
22-
O-
q11.1/
1-69		 female/
47y		 PBL n.a. 47,XX,+mar[17]/45,X[2]/
46,X,+mar[1]/46,XX[9]		 inv dup(22)(q11.1) cep;
subcenM		 normal female; daughter with sSMC and infertile {377} case 22-O-q11.1/1-69
22-
O-
q11.1/
1-70		 female/
37y		 PBL n.a. 47,XX,+mar[14]/
46,XX[18]		 inv dup(22)(q11.1) cep;
subcenM		 normal female; infertile {377} case 22-O-q11.1/1-70
22-
O-
q11.1/
1-71		 female/
17y		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep;
subcenM		 normal female; infertile {377} case 22-O-q11.1/1-71
22-
O-
q11.1/
1-72		 male/
50y		 PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep;
subcenM		 normal male; infertile {377} case 22-O-q11.1/1-72
22-
O-
q11.1/
1-73		 male/
44y		 PBL
(EKF-
cellbank)		 n.a. parental, as brother has same sSMC 47,XY,+mar[100%] inv dup(22)(q11.1) cep;
subcenM		 normal male; infertile; AT; brother OAT {377} case 22-O-q11.1/1-73
22-
O-
q11.1/
1-74		 female/
40y		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep;
subcenM		 normal female; infertile {377} case 22-O-q11.1/1-74
22-
O-
q11.1/
1-75		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep normal female; infertile {377} case 22-O-q11.1/1-75
22-
O-
q11.1/
1-76		 male/
36y
 PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep normal male; infertile {377} case 22-O-q11.1/1-76
22-
O-
q11.1/
1-77		 male/
adult
 PBL
bucal mucosa
sperm
 n.a. 47,XY,+mar[30%]/
46,XY[70%]
in BM: sSMC in 42%
in sperm: 27.5%
 inv dup(22)(q11.1) cep normal male; infertile {361}
22-
O-
q11.1/
1-78		 male/
32y
 PBL
 n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep normal male; transsexual
 {377} case 22-O-q11.1/1-78
22-
O-
q11.1/
1-79		 male/
33y
 PBL
 n.a. 47,XY,+mar[11]/
46,XY[24]		 inv dup(22)(q11.1) cep normal male; infertile
 {0} provided from Germany
22-
O-
q11.1/
1-80 to 86
 n.a./
adult
 PBL
 n.a. 47,XN,+mar[?]/
46,XN[?]		 inv dup(22)(q11.1) cep; BACs
 normal ; infertile
 {379} 7 cases
22-
O-
q11.1/
1-87		 male/
39y
 PBL
 n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep normal male; infertile
 {0} provided from Germany
22-
O-
q11.1/
1-88		 female/
33y
 PBL
 n.a. 47,XX,+mar[30]/
46,XX[70]		 inv dup(22)(q11.1) cep normal female; infertile
 {0} provided from Greece
22-
O-
q11.1/
1-89		 female/
32y
 PBL
 n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep normal male; infertile
 {0} provided from Canada
22-
O-
q11.1/
2-1		 female/
prenatal		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[13]/
46,XX[27]		 min(22)(:p13→q11.1:) M-FISH, acro M;
cenM; UPD-test for #14		 AMA; no ultrasound abnormalities; after 38 weeks of gestation an unremarkable girl was born (weight 3.800g, length 53cm, and OFC 36.5cm). {2};
{377} case 22-O-q11.1/2-1
22-
O-
q11.1/
2-2		 female/
prenatal		 AF paternal 47,XX,+mar[100%] min(22)(pter→q11.1:) cenM; subcenM AMA; normal child born; father normal, as well {377} case 22-O-q11.1/2-2
22-
O-
q11.1/
2-3		 female/
1y		 PBL
(EKF-
cellbank)		 de novo 47,XX,+mar[21]/
46,XX[29]		 min(22)(:p12→q11.1:) acrocenM; subcenM normal child;
sSMC found prenatally		 {377} case 22-O-q11.1/2-3
22-
O-
q11.1/
2-4		 male/
30y		 PBL n.a. 47,XY,+mar[100%] min(22)(:p12→q11.1:) cenM; subcenM normal male but infertile {377} case 22-O-q11.1/2-4
22-
O-
q11.1/
2-5		 male/
37y		 PBL n.a. 47,XY,+mar[100%] min(22)(pter→q11.1:) ceps;
subcenM		 normal male but infertile {377} case 22-O-q11.1/2-5
22-
O-
q11.1/
2-6		 male/
29y		 PBL n.a. 47,XY,+mar[100%] min(22)(pter→q11.1:) ceps;
subcenM		 normal male but infertile {0} provided from Germany
22-
O-
q11.1/
3-1		 see 22-Uc-1
22-
O-
q11.1/
4-1		 male/
prenatal		 AF maternal 48,XY,+marx2[12]/
47,XY,+mar[9]		 inv dup(22)(q11.1) (x2) centromeric probes, cos 121 mother and child normal {178} case 2
22-
O-
q11.1/
5-1		 male/
33y		 PBL n.a. 47,XY,+mar[100%] min(22)(pter→q11.1)[5]/
inv dup(22)(q11.1)[5]/ r(22)(::pter→q11.1:
:q11.1→pter::)[2]		 acrocenM subcenM normal male - repeated abortions in female partner {212} case 104
{321} case 22-21;
{377} case 22-O-q11.1/5-1
22-
O-
q11.1/
5-2		 female/
prenatal		 AF de novo 47,XX,+mar[100%] r(22)(::p1?2→
q11.1::)[2]/
min(22)(pter→q11.1)[1]/
inv dup(22)(q11.1)[6]		 acrocenM subcenM AMA; sonography of fetus normal; normal child born - normal at 3m {247} case 14,
{377} case 22-O-q11.1/5-2
22-O-
q11.1/
6-1		 male/
27y		 PBL n.a. 47,XY,+mar[10%]/
46,XY[90%]		 r(22)(::p1?2→q11.1::) cenM
subcenM		 habitual abortions in female partner {321} case 22-22;
{377} case 22-O-q11.1/6-1
22-
O-
q11.1/
6-2		 male/
prenatal		 AF pat 47,XY,+mar[100%] r(22)(::p1?3→q11.1::) cenM subcenM; UPD-test AMA; father normal {377} case 22-O-q11.1/6-2
22-
O-
q11.1/
7-1		 see McCl-22-O-q11.1/1-1
22-
O-
q11.1
~11.2/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(22)(q11.1~11.2) midi see below {43}
Amniocentesis due to unilateral hydronephrosis in ultrasound; child born without CES stigmata apart from preauricular skin pits; additionally unilateral hearing loss and hypoplasia of right kidney; normal at age of 3y
***
22-
O-
q11.1
~11.2/
1-2
 female/
prenatal		 AF de novo?
47,XX,+mar[18]/
46,XX[3]		 inv dup(22)(q11.1~11.21)
FISH-data:CTA-115F6 at 16.37MB on sSMC		 cep probes
subcenM		 AMA; child born and normal - apart from preauricular tags on both sides {377} case 22-O-q11.1~
11.2/1-2
22-
O-
q11.1
~11.2/
2-1		 female/
13y		 PBL/bone marrow n.a. 47,XX,+mar[25] min(22)(:p13→q11.1~11.2:)* SKY, probe PAC134J15 detected in bone marrow due to a hemangioendothelioma {44}
22-
O-
q11.2/
1-1		 female/
prenatal		 CH
AF/ PBL		 de novo 47,XX,+r[10]CH/
[38%]AF/
46,XX[90]CH/
[62%]AF
r present in 55% of PBL		 r(22)(::p10→q11.2::) .ish (D22S75+) all available centromeric probes; DiGeorge syndrome probe AMA and nuchal translucency; child developmentally normal at 15m {35} case 10
22-
O-
q11.21/
1-1		 female/
prenatal		 AF maternal; familial 47,XX,+mar[10] inv dup(22)(q11.21) M-FISH; acro-cenM;
subcenM; aCGH		 AMA; mother with dwarphism and clubfoot no clinical signs in normal brother and father with same sSMC {181} case 22-17
{192} case E;
{377} case 22-O-q11.21/1-1
22-
O-
q11.21/
1-2		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(22)(q11.21)* SKY, 4 centromere near probes AMA and twin pregnancy, second twin without sSMC; newborn normal apart from type II ASD; normal at 2y of age {188}
22-
O-
q11.21/
1-3		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.21)
FISH-data:CTA-115F6 at 16.35MB on sSMC		 cenM, subcenM normal female, oligoamenorrhoea possible, urinary tract infection {377} case 22-O-q11.21/1-3
22-
O-
q11.21/
1-4		 see -0Xf-22-1
22-
O-
q11.21/
1-5		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(22)(q11.21)* BACs and MLPA AMA in normal woman {249} case 24
22-
O-
q11.21/
1-6		 male/
31y		 PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.21) acro-cenM, subcenM
CES-specific BACs		 normal man with infertility {321} case 22-24;
{377} case 22-O-q11.21/1-6
22-
O-
q11.21/
2-1		 male and female/
children and adult		 AF, PBL
(EKF-
cellbank)		 familial 47,+mar[100%] inv dup(22)(pter→
q11.21:
:q11.1→pter)
FISH-data: CTA-115F6 at 16.35MB on sSMC
between
16.35MB and 17.10MB		 cenM, subcenM
CR-FISH		 all family members normal grandfather, mother, child {345} case 11;
{377} case 22-O-q11.21/2-1
22-
O-
q11.21/
3-1		 see 22-Uc-3
22-
O-
q11.21/
3-2		  female
4y
 PBL maternal 47,XX,+mar[100%] inv dup(22)(q11.21)

aCGH[hg19] break in q at 18.651673 Mb
 cenM, subcenM
 all family members normal
 {0} provided from Germany
***
22-
O-
q11.21/
4-1
 female/
prenatal		 AF paternal 47,XX,+mar[35]/
46,XX[12]		 r(22)(::p12→q11.21::)
FISH-data: RP11-172D7 at 16.37MB on sSMC		 cenM, subcenM, CES-specific BACs AMA, normal sonography {377} case 22-O-q11.21/4-1
22-
O-
q11.21/
4-2		 male/
prenatal		 AF de novo 47,XY,+mar[46]/
46,XY[19]		 min(22)(:p11.2→q11.21:) cep probes, subcenM, CES-specific BACs; UPD-test AMA, normal child born {377} case 22-O-q11.21/4-2
22-
O-
q11.21/
4-3		 male/
29y		 PBL n.a. 47,XY,+mar[15]/
46,XY[15]		 min(22)(pter→q11.21:)
in aCGH no euchromatin deteceted		 cep probes, subcenM, CES-specific BACs infertility {321} case 22-25;
{377} case 22-O-q11.21/4-3
22-
O-
q11.21/
4-4		 male/
prenatal		 AF maternal (9% in PBL of mother) 47,XY,+mar[100%] min(22)(pter→q11.21:) BACs and MLPA normal woman, child studied due to known sSMC in mother {249} case 25
***
22-
O-
q11.21/
4-5
 female/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[20%]/
46,XX[80%]		 min(22)(:p11.2→q11.21:)
aCGH: arr[hg19]: break in 18,848,020		 cenM,
subcenM,
aCGH		 infertile {377} case 22-O-q11.21/4-5
22-
O-
q11.21/
5-1		 female/
prenatal		 AF maternal (?) (1 sSMC in 50 PBL cells) 47,XX,+mar[21]/
46,XX[6]		 r(22)(:p12→
q11.21:)[9]/
r(22)(::p12→
q11.21::)[3]/
r(22;22)(::p12→
q11.21: :p12→q11.21::)[3]
array: 15.31-16.10
FISH-data: CTA-115F6 at 16.35MB on sSMC		 cenM subcenM; aCGH; UPD-test abnormal biochemistry test and flat profile in ultrasound. normal child born. Normal at age of 2y {377} case 22-O-q11.21/5-1
22-
O-
q11.21/
6-1		 female/
prenatal		 AF
PBL
 de novo
 47,XX,+mar[37]/
46,XX[152]
in PBL sSMC in 42%
 r(22)(:p12→
q11.21:)
  FISH-data: HIRA on sSMC - at 19.4Mb		 wcp 22, cep 14/22 and LSI HIRA
 normal child born and normal at 10 months
 {373}
22-
O-
q11.21/
6-2		 female/
33y		 PBL
 n.a.
 47,XX,+mar[12]/
46,XX[38]
 min(22)(pter→
q11.21:)
  FISH-data: HIRA on sSMC - at 19.4Mb		 ceps, subcenM, LSI HIRA
 normal female, infertile
 {0} provided from Germany

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
22-
O-
IMB-
p11.2/
1-1 to
1-3 		female/
adult 		PBL n.a.
46,XX,dup(22)(q11.2)
array: 17,270,615 to 20,128,907 		MLPA; aCGH normal female, son studied due to non-syndromic classic bladder exstrophy {243; 244}

O-cases with unclear/insufficient characterization of the sSMC (CO)

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-
CO-
1		 female/
prenatal		 AF maternal 47,XX,+mar[?] mar(22) different FISH probes (D14/22Z1; wcp22) AMA; child normal at birth {22} case 11
{23} case 23
22-
CO-
2		 female/
prenatal		 AF de novo 47,XX,+mar[?] mar(22) different FISH probes (D14/22Z1; wcp22) AMA; child normal at birth {22} case 23
{23} case 22
22-
CO-
3
 female/
prenatal		 n.a. n.a. 47,XX,+mar[100%] min(22) SKY newborn normal {167}
22-
CO-
4		 male/
1m		 PBL maternal?
46,XX,t(22;?)		 47,XY,+mar[100%] inv dup(22)(:q1?2→p11.1:
:p11.1→q1?2:)		 cenM, subcenM newborn normal {377} case 22-CO-4
22-
CO-
5		 female/
6y		 PBL de novo 47,XX,+mar[100%] mar(22) cep normal {23} cases 22
22-
CO-
6		 female/
prenatal		 AF maternal 47,XX,+mar[100%] mar(22) cep normal at birth {23} cases 23
22-
CO-
7
 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(22) cep normal; ISCI patient {47} 1 case
{212} case 105
{321} case 22-26
22-
CO-
8
 male/
1m		 PBL maternal 47,XY,+mar[100%] mar(22) all available centromeric probes normal at age of 6y {28} case 45539
22-
CO-
9
 n.a./
prenatal		 AF maternal 47,+mar[?%] inv dup(22) n.a. normal mother and/ or normal ultrasound {228} 1 case
22-
CO-
10
 n.a./
26y		 PBL maternal 47,+mar[?%] inv dup(22) wcp 22 normal mother and normal male; repeated abortions in partner of male {248}
{321} case 22-27
22-
CO-
11 to 12
 male/
39 and 52y		 PBL n.a. 47,XY,+mar[?%] mar(22) wcp 22 normal male, infertile
 {364} cases P4 and P5
22-
CO-
13
 n.a./
postnatal		 PBL n.a. 47,+mar[?%] min or r(22) n.a. normal, infertile
 {380} 1 case