ChromosOmics - Database

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                                                  -  CHROMOSOME #14 -                                                 
NORMAL
 
 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(14)mat UPD(14)pat UPD(14)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
14-
O-
p11.1/
1-1		 see 14-Uc-1
14-
O-
q1?0/
1-1		 male/
1m		 PBL maternal 47,XY,+mar[19]/
46,XY[81]		 min(14)(pter→q1?0)* all available centromeric probes normal at age of 11y {9} case 28239
14-
O-
q1?0/
1-2		 male/
1m		 PBL de novo 47,XY,+mar[~50%]/
46,XY[~50%]		 min(14)(pter→q1?0)* all available centromeric probes normal at age of 6y {9} case 41934
14-
O-
q10/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[10] inv dup(14)(q10) cenM; subcenM AMA; no ultrasound abnormalities; child born without clinical symptoms {1} case 20;
{92} case 14-O-q10/1-1
14-
O-
q10/
1-2		 male/
27y		 PBL de novo 47,XY,+mar[15] inv dup(14)(q10) acro-cenM; subcenM detected during ICSI course; no clinical symptoms {31} case 14-42
{45} case 25
{78} case 14-1; {92} case 14-O-q10/1-2
14-
O-
q10/
1-3		 male/
28y		 PBL n.a. 47,XY,+mar[15] inv dup(14)(q10) acro-cenM; subcenM detected during ICSI course; no clinical symptoms apart from OAT 3. grade {31} case 14-43
{45} case 26
{78} case 14-2; {92} case 14-O-q10/1-3
14-
O-
q10/
1-4		 male/
34y		 PBL n.a. 47,XY,+mar[15] inv dup(14)(q10) acro-cenM detected during ICSI course; no clinical symptoms apart from OAT syndrome {31} case 14-44
{45} case 27
{78} case 14-3;
{92} case 14-O-q10/1-4
14-
O-
q10/
1-5		 male/
38y		 PBL n.a.
47,XY,+mar[15]		 inv dup(14)(q10) acro-cenM detected due to prenatal diagnosis of child of female partner; no clinical symptoms in 38 year old male {31} case 14-45; {92} case 14-O-q10/1-5
14-
O-
q10/
1-6		 female/
1m		 PBL maternal 47,XX,+mar[100%] inv dup(14)(q10)* all available centromeric probes normal at age of 21y {9} case 40
14-
O-
q10/
1-7		 male/
prenatal		 AF de novo 47,XY,+mar[17]/
46,XY[3]		 inv dup(14)(q10)* all available acrocentric centromeric probes normal at age of 9 y {9} case 32830
14-
O-
q10/
1-8		 male/
1m		 PBL paternal 47,XY,+mar[100%] inv dup(14)(q10)* all available centromeric probes normal pregnancy up to week 24; then preterm spontaneous birth with postnatal complications; normal at age of 9m {10} case 1
14-
O-
q10/
1-9 to
1-12		 female/
prenatal		 AF paternal/
maternal/
de novo/ n.a.		 47,XX,+mar[100%] 2x
[30%] 1x ({12}case6)
[20%] 1x ({12}case7)		 inv dup(14)(q10)* all available centromeric probes AMA, no ultrasoundabnormalities; child born without clinical symptoms {12} cases 4-7
14-
O-
q10/
1-13		 male/
26y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q10)* centromeric probes normal but infertility in partnership; severe oligoasthenospermia {18} case 1
{45} case 28
{78} case 14-3
14-
O-
q10/
1-14		 male/
adult		 PBL n.a. 47,XY,+mar[15] inv dup(14)(q10) cenM;
subcenM		 normal but infertility in partnership {31} case 14-414
{45} case 29
{78} case 14-4;
{92} case 14-O-q10/1-14
14-
O-
q10/
1-15		 female/
adult		 PBL n.a. 47,XX,+mar[15] inv dup(14)(q10) cenM;
subcenM
normal; daughter with sSMC and abnormalities of unclear origin; no UPD 14		 {31} case 14-415; {92} case 14-O-q10/1-15
14-
O-
q10/
1-16		 female/
38y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q10) centromeric probes;
subcenM		 normal; daughter with same marker in 100% of the cells and dwarfism; suspicion of Turner syndrome {31} case 14-416; {92} case 14-O-q10/1-16
14-
O-
q10/
1-17		 male/
53y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q10) ceps, subcenM
 normal male; infertile {0} provided from Greece
14-
O-
q10/
1-18		 female/
38y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q10) ceps, subcenM
 normal female; infertile {0} provided from Munich, Germany
14-
O-
q10/
2-1		 see 13/21-O-q10/4-1
14-
O-
q11/
1-1		 male/
prenatal		 AF maternal
(age 34y)		 47,XY,+mar[15] inv dup(14)(q11) acro-cenM; UPD-test Amniocentesis due to psychological indication age; no ultrasound abnormalities; child born without clinical symptoms; mother normal {3} case 3;
{92} case 14-O-q11/1-1
14-
O-
q11/
1-2		 female/
28y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[50%]/
46,XX[50%]		 inv dup(14)(q11) acro-cenM;
subcenM		 normal female {31} case 14-6;
{92} case 14-O-q11/1-2
14-
O-
q11/
2-1		 female/
18y		 PBL n.a. 47,XX,+mar[100] min(14)(:p11→q11:) cep probes studied due to a son with karyotype 47,XY,rob(13;21)(q10;q10),+21,+mar* {64} mother of index case
14-
O-
q11.1/
1-1		 female/
37y		 PBL n.a. 47,XX,+mar[43]/
46,XX[7]		 inv dup(14)(q11.1) acro-cenM; subcenM; UPD-test detected during ICSI course; no clinical symptoms {31} case 14-7
{45} case 30
{78} case 14-5;
{92} case 14-O-q11.1/1-1
14-
O-
q11.1/
1-2		 female/
38y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acro-cenM infertility; no other clinical symptoms {31} case 14-8
{45} case 31
{78} case 14-6;
{92} case 14-O-q11.1/1-2
14-
O-
q11.1/
1-3		 male/
36y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM infertility; OAT-syndrome; no other clinical symptoms {45} case 32
{78} case 14-7;
{92} case 14-O-q11.1/1-3
14-
O-
q11.1/
1-4		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(14)(q11.1) centromeric probes; subcenM; UPD-test AMA; baby normal in ultrasound, born normal with 3210 g, APGAR 8/9 {92} case 14-O-q11.1/1-4
14-
O-
q11.1/
1-5		 see +0Xf-14-2
14-
O-
q11.1/
1-6		 male/
39y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acro-cenM, subcenM ICSI patient; normal male {45} case 33
{78} case 14-8;
{92} case 14-O-q11.1/1-6
14-
O-
q11.1/
1-7		 female/
25y		 PBL paternal 47,XX,+mar[100%] inv dup(14)(q11.1) centromeric probes, subcenM normal female; father normal as well {92} case 14-O-q11.1/1-7
14-
O-
q11.1/
1-8		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM, subcenM normal male; repeated abortions in his wife {45} case 34
{47} case 8
{78} case 14-9;
{92} case 14-O-q11.1/1-8
14-
O-
q11.1/
1-9		 female/
32y		 PBL n.a.
47,XX,+mar[100%]		 inv dup(14)(q11.1) acro-cenM, subcenM normal female; prenatally detected child with same marker - thus, cytogenetics done in mother as well {92} case 14-O-q11.1/1-9
14-
O-
q11.1/
1-10		 female/
29y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[52%]
46,XX[48%]		 inv dup(14)(q11.1) cenM, subcenM normal female; repeated abortions {39} case 6
{45} case 35
{78} case 14-10
{78} case 14-11;
{92} case 14-O-q11.1/1-10
14-
O-
q11.1/
1-11		 male/
45y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM, subcenM normal male; unfulfilled wish for children {45} case 36;
{92} case 14-O-q11.1/1-11
14-
O-
q11.1/
1-12		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM normal female {47} case 9
{78} case 14-12;
{92} case 14-O-q11.1/1-12
14-
O-
q11.1/
1-13		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM, subcenM normal female; mar detected as mar also present in unborn child {47} case 10;
{92} case 14-O-q11.1/1-13
14-
O-
q11.1/
1-14		 female/
27y		 PBL
(EKF-
cellbank)		 paternal 47,XX,+mar[100%] inv dup(14)(q11.1) cep probes subcenM normal female, father normal as well; sSMC detected due to abortus {92} case 14-O-q11.1/1-14
14-
O-
q11.1/
1-15
male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(14)(q11.1) cep probes subcenM pregnancy outcome unknown; mother normal {92} case 14-O-q11.1/1-15
14-
O-
q11.1/
1-16		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cep probes subcenM normal male with severe type of oligospermia {78} case 14-13;
{92} case 14-O-q11.1/1-16
14-
O-
q11.1/
1-17		 male/
35y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cep probes subcenM normal male, infertile {78} case 14-14;
{92} case 14-O-q11.1/1-17
14-
O-
q11.1/
1-18		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14)(q11.1) cep probes subcenM; UPD-test normal child born {58} case 19;
{92} case 14-O-q11.1/1-18
14-
O-
q11.1/
1-19		 female/
63y		 PBL n.a. 47,XX,inv(19)(p13.3q13.1),
+mar[100%]		 inv dup(14)(q11.1) cenM; subcenM normal female; reason for cytogenetic analysis unknown {92} case 14-O-q11.1/1-19
14-
O-
q11.1/
1-20		 female/
prenatal		 AF maternal 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM mother normal female; normal child born {92} case 14-O-q11.1/1-20
14-
O-
q11.1/
1-21		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM; UPD-test AMA, normal child born {58} case 20; {92} case 14-O-q11.1/1-21
14-
O-
q11.1/
1-22		 male/
prenatal		 AF de novo 47,XY,+mar[96%]
46,XY[4%]		 inv dup(14)(q11.1) cenM; subcenM; UPD-test AMA, normal child born {92} case 14-O-q11.1/1-22
14-
O-
q11.1/
1-23		 n.a./
prenatal		 AF/ PBL de novo 47,+mar[88%]
in PBL 87%		 inv dup(14)(q11.1) midi twin pregnancy; mar only in one twin, normal child born {49} case 1
14-
O-
q11.1/
1-24		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM; UPD-test studied due to sonographic markers: white spot, pericardia effusion; also previous anti-sterility treatment; normal child born {92} case 14-O-q11.1/1-24
14-
O-
q11.1/
1-25		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM; UPD-test
AMA; normal child born, normal at 1 years of age		 {56}
14-
O-
q11.1/
1-26		 female/
prenatal		 AF de novo 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM AMA, normal child born, normal at 0.5 years of age {92} case 14-O-q11.1/1-26
14-
O-
q11.1/
1-27		 female/
32y		 AF n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM normal female; reason for cytogenetics not known {92} case 14-O-q11.1/1-27
14-
O-
q11.1/
1-28		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM; UPD-test AMA, normal child born, mother normal {58} case 21;
{92} case 14-O-q11.1/1-28
14-
O-
q11.1/
1-29		 male/
33y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) cenM; subcenM normal male, fertility problems {78} case 14-15;
{92} case 14-O-q11.1/1-29
14-
O-
q11.1/
1-30		 female/
prenatal		 PBL
(EKF-
cellbank)		 maternal 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM prenatally detected by chance, mother normal {92} case 14-O-q11.1/1-30
14-
O-
q11.1/
1-31
female/
36y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[7]/
46,XX[23]		 inv dup(14)(q11.1) cenM; subcenM normal female, infertile {78} case 14-16;
{92} case 14-O-q11.1/1-31
14-
O-
q11.1/
1-32		 female/
29y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM normal female, infertile {78} case 14-17;
{92} case 14-O-q11.1/1-32
14-
O-
q11.1/
1-33		 male/
prenatal		 AF n.a. 47,XY,+mar[61%]/
46,XY[39%]		 inv dup(14)(q11.1) cenM; subcenM normal male born and normal at 6 months {92} case 14-O-q11.1/1-33
14-
O-
q11.1/
1-34		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) cenM; subcenM normal female born and normal at 3 months {92} case 14-O-q11.1/1-34
14-
O-
q11.1/
1-35		 male/
35y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM
normal male
infertile		 {78} case 14-18;
{92} case 14-O-q11.1/1-35
14-
O-
q11.1/
1-36		 male/
prenatal		 AF pat 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal father {92} case 14-O-q11.1/1-36
14-
O-
q11.1/
1-37		 male/
prenatal		 AF mat 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal mother {92} case 14-O-q11.1/1-37
14-
O-
q11.1/
1-38		 male/
43y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal male
infertile, cryptozoospermia		 {92} case 14-O-q11.1/1-38
14-
O-
q11.1/
1-39		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal male
infertile		 {92} case 14-O-q11.1/1-39
14-
O-
q11.1/
1-40		 male/
prenatal		 AF n.a. 47,XY,+mar[~90%]/
46,XY[~10%]		 inv dup(14)(q11.1) acrocenM; subcenM AMA, normal child born and normal at 3.5 month old {92} case 14-O-q11.1/1-40
14-
O-
q11.1/
1-41		 male/
32y		 PBL n.a. 47,XY,+mar[16]/
46,XY[84]		 inv dup(14)(q11.1) acrocenM; subcenM normal male
infertile		 {92} case 14-O-q11.1/1-41
14-
O-
q11.1/
1-42		 male/
46y		 PBL n.a. 47,XY,+mar[6]/
46,XY[14]		 inv dup(14)(q11.1) acrocenM; subcenM normal male
infertile		 {92} case 14-O-q11.1/1-42
14-
O-
q11.1/
1-43		 female/
39y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal female
infertile		 {92} case 14-O-q11.1/1-43
14-
O-
q11.1/
1-44		 female/
36y
PBL
 (EKF-
cellbank)		 n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal female
infertile		 {92} case 14-O-q11.1/1-44
14-
O-
q11.1/
1-45		 male/
17y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM; subcenM normal male
infertile: hypogonadotropic hypogonadism		 {92} case 14-O-q11.1/1-45
14-
O-
q11.1/
1-46		 female/
33y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal, brother died early due to unknown reasons {92} case 14-O-q11.1/1-46
14-
O-
q11.1/
1-47		 male/
30y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal male; infertile {92} case 14-O-q11.1/1-47
14-
O-
q11.1/
1-48		 male/
adult		 PBL
 (EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal male; infertile {92} case 14-O-q11.1/1-48
14-
O-
q11.1/
1-49		 female/
35y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal female; infertile {92} case 14-O-q11.1/1-49
14-
O-
q11.1/
1-50		 male/
42y		 PBL
 (EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal male; infertile {92} case 14-O-q11.1/1-50
14-
O-
q11.1/
1-51		 female/
41y		 PBL
 (EKF-
cellbank)		 n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) acrocenM
subcenM		 normal female; infertile {92} case 14-O-q11.1/1-51
14-
O-
q11.1/
1-52		 female/
30y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps normal female; infertile {92} case 14-O-q11.1/1-52
14-
O-
q11.1/
1-53		 female/
34y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps normal female; RAB {92} case 14-O-q11.1/1-53
14-
O-
q11.1/
1-54		 male/
4m		 PBL pat 47,XY,+mar[100%] inv dup(14)(q11.1) ceps abnormal male; but father normal
 {92} case 14-O-q11.1/1-54
14-
O-
q11.1/
1-55		 female/
prenatal		 AF pat 47,XX,+mar[100%] inv dup(14)(q11.1) ceps AMA; father normal
 {92} case 14-O-q11.1/1-55
14-
O-
q11.1/
1-56		 male/
34y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps normal male; infertile, azoospermia
 {92} case 14-O-q11.1/1-56
14-
O-
q11.1/
1-57		 male/
28y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps normal male; infertile
 {92} case 14-O-q11.1/1-57
14-
O-
q11.1/
1-58		 female/
19y		 PBL n.a. 47,XX,+mar[23]/
46,XX[7]		 inv dup(14)(q11.1)
aCGH: no result - and false positive on pericentr. 12
 ceps
aCGH
 healthy apart from unclear psychological disorder
 {92} case 14-O-q11.1/1-58
14-
O-
q11.1/
1-59		 female/
38y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps normal female; infertile
 {92} case 14-O-q11.1/1-59
14-
O-
q11.1/
1-60		 male/
36y		 PBL n.a. 47,XY,+mar[12]/
46,XY[18]		 inv dup(14)(q11.1) ceps normal male; infertile
 {92} case 14-O-q11.1/1-60
14-
O-
q11.1/
1-61		 female/
42y		 BM n.a. 47,XX,+mar[18]/
46,XX[2]		 inv dup(14)(q11.1) ceps normal female; sSMC detected during leukemia diagnostics
 {0}
14-
O-
q11.1/
1-62		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps normal male; infertile {0} provided from Portugal
14-
O-
q11.1/
1-63		 male/
40y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal male; infertile {0} provided from Mainz, Germany
14-
O-
q11.1/
1-64		 male/
43y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal male; infertile {0} provided from Spain
14-
O-
q11.1/
1-65		 female/
44y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal female; infertile {0} provided from Greece
14-
O-
q11.1/
1-66		 female/
32y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal female; infertile {0} provided from Essen, Germany
14-
O-
q11.1/
1-67		 female/
36y		 PBL n.a. 47,XX,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal female; infertile {0} provided from Erfurt, Germany
14-
O-
q11.1/
1-68		 male/
43y		 PBL n.a. 47,XY,+mar[100%] inv dup(14)(q11.1) ceps, subcenM
 normal male; infertile {0} provided from Hamburg, Germany
14-
O-
q11.1/
1-69		 female/
29y		 PBL n.a. 47,XX,+mar[6]/
46,XX[24]
 inv dup(14)(q11.1)
or der(14)(:p11.2→q11.1::q11.1→p11.2:)
 ceps, subcenM
 normal female; infertile {0} provided from Essen, Germany
14-
O-
q11.1/
1-70		 female/
adult
 PBL n.a. 47,XX,+mar[?%]/
46,XX[?%]		 inv dup(14)(q11.1) ceps, subcenM
 normal female; infertile {0} provided from Portugal
14-
O-
q11.1/
2-1		 male/
prenatal		 CH; umbilical chord blood de novo CH: 47,XY,+mar[50%]/
46,XY[50%]
UBL: 48,XY,+marx2[2%]/
47,XY+mar[12]/
46,XY[3]		 inv dup(14)(q11.1)x2 centromeric probes, subcenM; UPD-test AMA and enhanced nuchal translucency in early pregnancy; normal child born with weight 3920g and length 52cm; APGAR 8/9/9; {92} case 14-O-q11.1/2-1
14-
O-
q11.1/
2-2		 female/
40y		 PBL n.a. 48,XX,+2mar[100%] inv dup(14)(q11.1)x2 cenM; subcenM normal female, infertile {45} case 37
{78} case 14-19;
{92} case 14-O-q11.1/2-2
14-
O-
q11.1/
3-1
 male/
37y		 PBL n.a. 47,XY,t(5;6)(q21;q12),+mar[100%] inv dup(14)(q11.1) ceps
normal male; infertile 		{92} case 14-O-q11.1/3-1
14-
O-
q11.1/
4-1		 female/
prenatal		 AF
de novo		 47,XX,+mar[100%] min(14)(:p11.1→q11.1:)
or min(14)(pter→q11.1:)		 cenM; subcenM AMA, normal female born (normal at 6m) {92} case 14-O-q11.1/4-1
14-
O-
q11.1/
4-2		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] min(14)(pter→q11.1:) ceps; subcenM AMA; normal child born; normal at 3 y {70} case Sm-6;
{92} case 14-O-q11.1/4-2
14-
O-
q11.1/
4-3		 male/
adult		 PBL n.a. 47,XY,+mar[100%] min(14)(pter→q11.1:) acrocenM; subcenM normal male; sSMC detected as transmitted to child with macrocephaly, unilateral sensorineural deafness, global psycho-motor DD {92} case 14-O-q11.1/4-3
14-
O-
q11.1/
4-4		 female/
35y		 PBL n.a. 47,XX,+mar[14]/
46,XX[36]		 min(14)(pter→q11.1:) acrocenM; subcenM normal female; infertile {92} case 14-O-q11.1/4-4
14-
O-
q11.1/
4-5		 male/
35y		 PBL n.a. 47,XY,+mar min(14)(pter→q11.1:) MCB normal male; infertile {94} case 2
14-
O-
q11.1/
5-1		 male/
50y		 PBL n.a. 47,XY,+mar[7]/
46,XY[13]		 r(14)(::p13→q11.1::),cen+ cenM; subcenM normal male with infertility {78} case 14-21;
{92} case 14-O-q11.1/5-1
14-
O-
q11.1/
6-1		 female/
40y		 PBL n.a. 47,XX,+mar[15%]/
46,XX[85%]		 r(14)(::p1?2→q11.1::) cenM; subcenM; UPD-test AMA, normal female born {92} case 14-O-q11.1/6-1
14-
O-
q11.2/
1-1		 see 14-Uc-2
14-
O-
q11.2/
2-1		 male/
prenatal		 AF n.a. 47,XY+mar[15]/
46,XY[10]		 dic(14)(:p11.1→q11.1: :p11.1→q11.2:)
BAC RP11-324B11 in 14q11.2 present once (19.88MB)		 M-FISH
subcenM		 AMA; normal child born {92} case 14-O-q11.2/2-1
14-
O-
q11.2/
3-1		 female/
29y		 PBL n.a.
47,XX,+mar[40]/
46,XX[60]		 min(14)(pter→q11.2:)
BAC RP11-324B11 in 14q11.2 present once (19.88MB)		 acrocenM
subcenM		 normal female, infertile {45} case 38
{78} case 14-22;
{92} case 14-O-q11.2/3-1
14-
O-
q11.2/
3-2		 female/
32y		 PBL n.a.
47,XX,+mar[45]/
46,XX[12]		 min(14)(pter→q11.2:)
BAC RP11-324B11 in 14q11.2 present once (19.88MB)		 acrocenM
subcenM		 normal female, infertile {{0} provided from Göttingen, Germany
14-
O-
q11.2/
4-1		 male/
32y		 PBL n.a. 47,XY,+mar[100%] r(14)(::p11.2→q11.2::) n.a. normal male, infertile {42}
{78} case 14-23;
{92} case 14-O-q11.2/4-1
***
14-
O-
q11.2/
5-1
 male/
prenatal		 AF maternal
(in PBL sSMC 100%)		 47,XY,+mar[100%] inv dup(14)(q11.2)
BAC RP11-324B11 in 14q11.2 present twice (19.88MB)
array: 18.45-20.24		 acrocenM
subcenM;
aCGH		 AMA, pregnancy outcome unknown but mother clinically normal {70} case Si-1;
{92} case 14-O-q11.2/5-1
14-
O-
q11.2/
5-2		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(14)(q11.2) MLPA abnormal first trimester screening; mother normal {59} case 10

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
4-
O-
IMB-
q/
1-1 		-
 		-
 		-
 		-
 		-
 		-
 		-

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
14-
CO-
1		 female/
prenatal		 AF maternal 47,XX,+mar[?] mar(14) different FISH probes (D14/22Z1; wcp14)
AMA; child normal at birth		 {6} case 10
{7} case 17
14-
CO-
2		 female/
prenatal		 AF/PBL de novo 47,XX,+r[7]/
46,XX[14]
(in PBL after birth mar in 6/20 cells)		 r(14) SKY; cep14/22 telomeric and sub-telomeric probe AMA; birth at term, no clinical signs at birth and at 6m; however infantile spasms at 6m, which could be treated {15}
14-
CO-
3		 male/
postnatal, adult		 PBL n.a. 48,XY,+marx2[100%] mar(14) cep probes child of normal person mentioned here with DMD studied cytogenetically; 47,XX,+mar was detected; two mar present in father {20} case 12
14-
CO-
4		 male/
1y		 PBL
cell line at ECACC DD0618		 de novo 47,XY,+mar[?]/
46,XY[?]		 mar(14) n.a.; UPD-test clinically normal {5} case 12
14-
CO-
5
female/
32y		 PBL
cell line at ECACC DD1233		 maternal 47,XX,+mar[57%]/
46,XX[43%]		 mar(14) n.a.; UPD-test clinically normal; daughter with same marker {5} case 14
14-
CO-
6		 female/
prenatal		 AF maternal 47,XX,+mar[100%] mar(14) cep probes clinically normal {13} case17
14-
CO-
7		 male/
prenatal		 AF maternal 47,XY,+mar[100%] mar(14) cep probes clinically normal {13} case 18
14-
CO-
8		 male/
postnatal		 PBL maternal 47,XY,+mar[100%] mar(14) cep probes mother and child clinically more or less normal {13} case 19
14-
CO-
9		 n.a./
postnatal		 PBL n.a. 47,+mar[100%] mar(14) cep probes normal {14} case 15
14-
CO-
10		 female/
adult		 PBL n.a. 47,XX,+mar[100%] mar(14) cep probes normal with poor reproductive history {14} case 16
{45} case 40
{78} case
  14-24
14-
CO-
11		 female/
adult		 PBL de novo 47,XX,+mar[100%] mar(14) cep probes normal with primary amenorrhea {20} case 10
{45} case 41
{78} case 14-25
14-
CO-
12		 male/
prenatal		 PBL paternal 47,XY,+mar[?]/
46,XY[?]		 mar(14) cep probes normal father with 100% sSMC, child with sSMC abnormal {20} father of case 14
14-
CO-
13
to 17		 n.a./
prenatal		 AF 2x maternal; 3x de novo 47,+mar[?%] inv dup(14) n.a. normal mother and/ or normal ultrasound {57} 5 cases

14-
CO-
18		 female/
30y		 PBL n.a. 47,XX,+mar[100%] mar(14) M-FISH; wcp 14 normal female with infertility; one pregnancy (TOP) with congenital malformations; female herself with polycystic ovaries and irregular menstrual cycle {92} case 14-CO-18
14-
CO-
19		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] mar(14) wcp 14, cep 14/22 AMA, normal child born {71} case 27