ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #13/21 -                                                 
NORMAL

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
13/21-
O-
q1?/
1-1
1-2		 male and female/
prenatal		 AF paternal 47,+mar[100%] inv dup(13 or 21)(q1?)* all available centromeric probes normal at birth {8} case 1-2
13/21-
O-
q1?/
1-3		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q1?)* all available acrocentric centromeric probes normal ; sSMC detected due to abnormal child reported in {24} {24} father of patient
13/21-
O-
q1?0/
2-1		 female/
prenatal		 AF maternal 47,XX,+mar[?] min(13 or 21)(q1?0)* FISH probe (D13/21Z1) AMA; child normal at age of 4 y {3} case 8
{4} case 15
13/21-
O-
q10/
1-1		 male/
prenatal		 AF de novo 47,XY,+mar[19%]/
46,XY[81%]		 inv dup(13 or 21)(q10) all available centromeric probes AMA; child normal at birth {16} case 1
13/21-
O-
q10/
1-2		 female/
prenatal		 AF and PBL
cell line at ECACC DD1364		 de novo 47,XX,+mar[100%] inv dup(13 or 21)(q10)* all centromeric probes; wcp 13; UPD-test AMA; clinically normal after birth and at 13y {2} case 21
{19} case 9
13/21-
O-
q10/
1-3		 male/
42y
PBL		 n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM
subcenM		 planned ICSI {39} case 18
{55} case 13/21-1
13/21-
O-
q10/
1-4		 female/
prenatal		 AF de novo 47,XX,+mar[15] inv dup(13 or 21)(q10) acro-cenM
subcenM		 AMA; clinically normal after birth {0} provided from Germany
13/21-
O-
q10/
1-5		 female/
prenatal		 AF de novo 47,XX,+mar[66%]/
46,XX[34%]		 inv dup(13 or 21)(q10)* centromeric probes, wcp 13, 21 AMA; twin pregnancy, second twin without marker; clinically normal after birth and at 4.5y {28} case 12; {34} case 28
13/21-
O-
q10/
1-6		 male/
prenatal		 AF de novo 49,XY,+marx3[8]/
47,XY,+mar[10]		 inv dup(13 or 21)(q10)* centromeric probes, wcp 13, 21 AMA; clinically normal after birth and at 3y {28} case 16
13/21-
O-
q10/
1-7		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10)* centromeric probes, wcp 13, 21 AMA; clinically normal after birth and at 3y {28} case 21
13/21-
O-
q10/
1-8		 male/
prenatal		 AF maternal 47,XY,+mar[100%] inv dup(13or21)(q10)* centromeric probes, wcp 13, 21 AMA; clinically normal after birth and at 1y; mother normal {28} case 27
13/21-
O-
q10/
1-9		 male/
prenatal		 AF paternal 47,XY,+mar[100%] inv dup(13 or 21)(q10)* centromeric probes, wcp 13, 21 AMA; clinically normal after birth and at 1y; mother normal {28} case 37
13/21-
O-
q10/
1-10		 female/
prenatal		 AF de novo 47,XX,+mar[50%]/
46,XX[50%]		 inv dup(13 or 21)(q10) cenM, subcenM; UPD-test AMA; clinically normal after birth and at 1y; mother normal {0} provided from Germany
13/21-
O-
q10/
1-11		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) cep probes, subcenM AMA, normal child born - normal at 8 weeks {0} provided from Germany
13/21-
O-
q10/
1-12		 female/
prenatal		 AF paternal
(in father 15%)		 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM AMA; clinically normal after birth, father normal {0} provided from Slovakia
13/21-
O-
q10/
1-13		 male/
prenatal		 AF paternal
(in father 100%)		 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM AMA; father clinically normal {0} provided from Germany
13/21-
O-
q10/
1-14		 female/
prenatal		 AF,  PBL
(EKF-
cellbank)		 maternal
(in mother 100%)		 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM AMA; mother clinically normal {0} case provided from Germany
13/21-
O-
q10/
1-15		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM AMA; father clinically normal {0} case provided from Czech Republic
13/21-
O-
q10/
1-16		 female/
prenatal		 AF,  PBL
(EKF-
cellbank)		 paternal 47,XX,+mar[100%] inv dup(13 or 21)(q10) cenM; subcenM Amniocentesis due to hygroma colli; after sectio a lymphangioma was removed; Child develops normal until 8y; at 11 y Asperger-autism and mild ADHS plus 2 years premature. Father clinically normal {0} case provided from Germany
13/21-
O-
q10/
1-17		 female/
13y		 PBL
(EKF-
cellbank)		 maternal 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM mother healthy, child studied due to leukemia and minor dysmorphic signs {0} case provided from Greece
13/21-
O-
q10/
1-18		 male/
34y		 PBL n.a. 47,XX,+mar[8]/
46,XX[12]		 inv dup(13 or 21)(q10) acrocenM; subcenM nromal male; 2 abortions in female partner {55} case 13/21-2
13/21-
O-
q10/
1-19		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal sonography, normal child born {0} provided from Germany
13/21-
O-
q10/
1-20		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal sonography, father normal {0} provided from Hungary
13/21-
O-
q10/
1-21		 male/
37y		 PBL
(EKF-
cellbank)		 n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal male, infertility {55} case 13/21-3
13/21-
O-
q10/
1-22		 male/
33y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal male, infertility {55} case 13/21-4
13/21-
O-
q10/
1-23		 female/
33y		 PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal female, infertility {0} provided from Greece
13/21-
O-
q10/
1-24		 male/
37y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal male, infertility {0} provided from Germany
13/21-
O-
q10/
1-25		 male/
31y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM normal male, infertility {0} provided from Germany
13/21-
O-
q10/
1-26		 female/
newborn		 PBL mat 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM mother and child normal {0} provided from Tunesia
13/21-
O-
q10/
1-27		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM normal female, infertility {0} provided from Greece
13/21-
O-
q10/
1-28		 female/
prenatal		 AF mat 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM lost during follow up; mother normal {0} provided from Germany
13/21-
O-
10/
1-29		 female/
prenatal		 AF and now PBL n.a.
47,XX,+mar[100%]		 inv dup(13 or 21)(q10) acrocenM prenatally detected - never studied and now pregnant {0} provided from Greece
13/21-
O-
q10/
1-30		 male/
36y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acrocenM normal male, infertile {0}
13/21-
O-
q10/
1-31		 male/
26y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps normal male, infertile {0} provided from Germany
13/21-
O-
q10/
1-32		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps normal male and RAB in partnership {0} provided from Portugal
13/21-
O-
q10/
1-33		 male/
prenatal		 AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps, wcp normal male at 4 y {50; 58} case 1
13/21-
O-
q10/
1-34		 male/
34y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-35		 male/
34y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-36		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Portugal
13/21-
O-
q10/
1-37		 male/
36y		 PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal male
infertile; infertile; OAT grade III
 {0} provided from Germany
13/21-
O-
q10/
1-38		 female/
45y		 PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal female
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-39		 female/
37y		 PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal female
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-40 to 1-44
 n.a./
prenatal		 PBL n.a. 47,XN,+mar inv dup(13 or 21)(q10) ceps
 normal
infertile
 {60} 5 cases
13/21-
O-
q10/
1-45		 female/
37y		 PBL n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) ceps
 normal female
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-46		 male/
36y		 PBL n.a. 47,XY,+mar[10]/
46,XY[20]		 inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Spain
13/21-
O-
q10/
1-47		 male/
42y		 PBL n.a. 47,XY,+mar[87]/
46,XY[13]		 inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Greece
13/21-
O-
q10/
1-48		 male/
38y		 PBL n.a. 47,XY,+mar[15]/
46,XY[15]		 inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Germany
13/21-
O-
q10/
1-49		 male/
adult		 PBL n.a. 47,XY,+mar inv dup(13 or 21)(q10) ceps
 normal male
infertile
 {0} provided from Spain
13/21-
O-
q10/
2-1		 female/
prenatal		 AF de novo 47,XX,+mar[25] min(13 or 21)(q10) M-FISH
acro-cenM;
subcenM		 AMA; pyelectasy on both spleens in ultrasound {0} provided by from Germany
13/21-
O-
q10/
2-2		 female/
37y		 PBL n.a. 47,XX,+mar[50%]/
46,XX[50%]		 min(13 or 21)(q10) cenM;
subcenM		 cytogenetics due to a planned ICSI {39} case 19
{55} case 13/21-5
13/21-
O-
q10/
3-1		 male/
1m		 PBL de novo 47,XY,+mar[41%]/
46,XY[59%]		 min(13 or 21)(:p11→q10:)* all available centromeric probes normal at age of 5y {10} case 42618
13/21-
O-
q10/
4-1		 see 13/21-Uc-1
13/21-
O-
q10/
5-1		 see 13/21-Uc-2
13/21-
O-
q10/
6-1		 male/
prenatal		 AF n.a. 48,XY,+mar1,+mar2[100%] inv dup(13 or 21)(q10) and del(13 or 21)(q10) acrocenM, subcenM AMA, normal child born and normal at 7 months {56}
13/21-
O-
q10/
7-1		 male/
32y		 PBL de novo 47,XY,t(4;17)(p15.2;q24.3)mat,+mar[10]/
46,XY,t(4;17)(p15.2;q24.3)mat[25]		 inv dup(13 or 21)(q10) acrocenM, subcenM normal but infertile {0} provided from Germany
13/21-
O-
q10/
8-1		 male/
32y		 PBL n.a. 48,XY,+marx2[100%] inv dup(13 or 21)(q10)x2 ceps normal male
OAT-syndrome		 {0} provided from Austria
13/21-
O-
q11/
1-1		 female/
prenatal		 AF paternal 47,XX,+mar[15] min13 (pter→q11:) or min21(pter→q11.1:) cenM;
midi		 AMA; pyelectasy on both spleens in ultrasound; father normal {0} provided from Germany
13/21-
O-
q11/
1-2		 male/
adult		 PBL n.a. 47,XY,+mar[100%] min13 (pter→q11:) or min21(pter→q11.1:)
aCGH no euchromtin detected		 cenM, acrocenM, subcenM
aCGH		 see below {0} provided from Turkey
normal male; mar detected due to child with abnormalities; child born at term, birth weight 3250g; mother with hypothyroidism and born with cleft lip and palate. developmental retardation at 16m; OFC 47,5 cm (25-50 centice), height 76 cm (25 centile) weight 9.4 kg (10-25 centile). wide, flat nasal bridge, wide mouth with protruding tongue. voice hoarse. Bilateral simian lines, skin loose,[nbsp] shawl scrotum, curly hair and long and curved eyelashes.When 2 yold, his intelligence was consistent with 18 months and his motor development was consistent with 23 months.
13/21-
O-
q11/
1-3		 male/
prenatal		 AF paternal 47,XY,+mar[11]/
46,XY[3]		 min13 (pter→q11:) or min21(pter→q11.1:) cenM, subcenM AMA; father normal {0} provided from Germany
13/21-
O-
q11/
1-4		 female/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] min13 (pter→q11:) or min21(pter→q11.1:) cenM, subcenM normal female, infertile {0} provided from Spain
13/21-
O-
q11/
1-5		 female/
adult		 PBL
 mat
(and in grandparent as well)
 47,XX,+mar[100%] min13 (pter→q11:) or min21(pter→q11.1:) cenM, subcenM normal female, unborn child with same sSMC (child born normal) - twin with +21
 {0} provided from Germany
13/21-
O-
q11/
1a-1		 male/
prenatal		 PBL n.a. 47,XY,+mar[50-75%]/ 46,XY[25-50%] min(13)(:p11.?1→q11:) or min(21)(:p11.?1→q11.1:) cenM;
subcenM		 AMA; no sonsgraphic abnormalities; child born without clinical symptoms {0} provided from Germany
13/21-
O-
q11/
1a-2		 female/
adult		 PBL n.a. 47,XX,+mar[20%]/ 46,XX[80%] min13 (:p11.1→q11:) or min21(:p11.1→q11.1:) acrocenM;
subcenM		 normal female {0} provides from Germany
13/21-
O-
q11/
2-1		 male/
prenatal		 AF de novo 47,XY,+mar[12]/
46,XY[2]		 inv dup(13)(q11) or inv dup (21)(q11.1)
aCGH no euchromtin detected		 cenM; aCGH AMA; no ultrasound abnormalities; child born without clinical symptoms {1} case 19
{0}
13/21-
O-
q11/
2-2		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal male, infertile 39} case 20
{55} case 13/21-6
13/21-
O-
q11/
2-3		 female/
adult		 PBL n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal female, studied due to repeated abortions {39} case 21
{42} case 6
{55} case 13/21-7
13/21-
O-
q11/
2-4		 male/
adult		 PBL n.a. 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal male, studied due to repeated abortions in his wife {39} case 22
{42} case 7
{55} case 13/21-8
13/21-
O-
q11/
2-5		 female/
prenatal		 AF n.a. 47,XX,+mar[5]/
46,XX[22]		 inv dup(13)(q11) or inv dup (21)(q11.1) acrocenM AMA; clinically normal after birth {0} provided from Germany
13/21-
O-
q11/
2-6		 male/
36y		 PBL n.a. 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cep probes, subcenM normal male, OAT syndrome {39} case 23
{55} case 13/21-9
13/21-
O-
q11/
2-7		 male/
30y		 PBL n.a. 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1)
aCGH no euchromtin detected
 cep probes; midi, aCGH normal male, infertility
{55} case 13/21-10
13/21-
O-
q11/
2-8		 male/
prenatal		 AF mat 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cep probes, midi white spot in US, child born, no further information available. mother normal {0} provided from Germany
13/21-
O-
q11/
2-9
 		male/
49y		 PBL mat 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cep probes; subcenM normal male,  (IVF planned) {55} case 13/21-11
13/21-
O-
q11/
2-10		 female/
prenatal		 AF mat 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cep probes; subcenM detected prenatally, mother normal, child normal born as well {0} provided from Spain
13/21-
O-
q11/
2-11		 male/
prenatal		 AF pat 47,XY,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM detected prenatally, father normal {0} provided from Israel
13/21-
O-
q11/
2-12		 n.a./
prenatal		 AF mat 47,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM detected prenatally, mother normal {0} provided from Israel
13/21-
O-
q11/
2-13		 n.a./
prenatal		 AF de novo 47,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM detected prenatally, normal baby born {0} provided from Serbia
13/21-
O-
q11/
2-14		 female/
prenatal		 AF , PBL
(EKF-
cellbank)		 n.a.
47,XX,+mar[3]/
46,XX[47]		 inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM detected prenatally, normal baby born {0} provided from Turkey
13/21-
O-
q11/
2-15		 female/
prenatal		 AF mat 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM detected prenatally, mother normal
 {0} provided from Spain
13/21-
O-
q11/
2-16		 female/
postnatal		 PBL mat 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) pericentric BAC probes normal as mother {53} case 6
13/21-
O-
q11/
2-17		 female/
postnatal		 PBL n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal female, sSMC already detected prenatally {0} provided from Spain
13/21-
O-
q11/
2-18		 female/
32y		 PBL n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal female, infertile {0} provided from Germany
13/21-
O-
q11/
2-19		 female/
60y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM; subcenM normal female {0}
13/21-
O-
q11/
3-1		 female/
adult		 PBL n.a. 48,XX,+marx2[100%] inv dup(13)(q11) or inv dup (21)(q11.1) x2 acrocenM; subcenM normal female, studied due to child with Down-syndrome - sSMC also in child (Case U-29 in Down-syndrome cases with sSMC) {0} case provided from Spain
13/21-
O-
q11/
3-2		 male/
adult		 PBL n.a. 48,XY,+marx2[100%] inv dup(13)(q11) or inv dup (21)(q11.1) x2 acrocenM; subcenM normal male; sSMC detected due to leukemia and cytogenetics performed in bone marrow {0} case provided from Serbia
13/21-
O-
q11/
4-1		 see 13/21-Uc-3
-
 -
 -
 -
 -
 -
 -
 -
 -

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
13/21-
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
13/21-
CO-
1		 female/
10m		 PBL de novo 47,XX,+mar[26%]/
46,XX[74%]		 inv dup(13 or 21)* centromeric probes for 13/21, 14/22 and 15 clinically normal after birth {5} case 3
13/21-
CO-
2		 male/
prenatal		 AF de novo 47,XY,+mar[100%] ?r(13 or 21) FISH with all available centromeric probes AMA; child normal at age of 4 months {6} case 6
13/21-
CO-
3		 male/
35y		 PBL n.a. 48,XY,+r1,+r2 r(13 or 21)
r(13 or 21)		 midi
cen13/21		 father normal, studied due to a hydrocephalus in the 3y old son {11} case 1;
{16} case 3
13/21-
CO-
4		 female/
prenatal		 AF de novo 47,XX,+mar[22]/
46,XX[28]		 r(13 or 21) cen13/21; wcp 13 , wcp 21, telomeric probe AMA; born at full term (birth weight: 3,351 g), and at 6 m of age phenotypically normal {27} case 2
13/21-
CO-
5		 female/
adult		 PBL n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal but repeated abortions {18} case 14
{39} case 24
{55} case 13/21-12
13/21-
CO-
6		 female/
prenatal
AF		 maternal 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal {18} case 15
13/21-
CO-
7		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(13 or 21) cen13/21 normal {18} case 16
13/21-
CO-
8		 female/
newborn		 PBL paternal 47,XX,+mar[100%] mar(13 or 21) cen13/21 father nad child normal {19} case 7
13/21-
CO-
9		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal at 7m {19} case 8
13/21-
CO-
10		 female/
adult		 PBL n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal; studied due to Down syndrome in family {19} case 11
13/21-
CO-
11		 n.a./
prenatal		 AF n.a. 47,+mar[100%] mar(13 or 21) cen13/21 normal at 18m {19} case 12
13/21-
CO-
12		 male/
prenatal		 AF de novo 47,XY,+mar[100%]
mar(13 or 21)		 cen13/21 normal at birth {30} case 30
13/21-
CO-
13		 female/
prenatal		 AF de novo 47,XX,+mar[11]/
46,XX[4]		 mar(13 or 21) cen13/21 normal at birth {30} case 31
13/21-
CO-
14		 male/
prenatal
AF		 de novo 47,XY,+mar[6]/
46,XY[11]		 mar(13 or 21) cen13/21 normal at 3y {30} case 32
13/21-
CO-
15		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(13 or 21) cen13/21 normal at 6w {30} case 34
13/21-
CO-
16		 female/
prenatal		 AF de novo 47,XX,+mar[7]/
46,XX[8]		 mar(13 or 21) cen13/21 normal at 21m {30} case 35
13/21-
CO-
17		 male/
prenatal		 AF de novo 47,XY,+mar[100%] mar(13 or 21) cen13/21 normal at 1y {30} case 37
13/21-
CO-
18
to 19		 male and female/
prenatal		 AF 2x maternal 47,+mar[100%] mar(13 or 21) cen13/21 mothers normal , no info on children available {30} case 38-39
13/21-
CO-
20		 female/
adult		 PBL n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal , detected due to mar in unborn child {31} mother of case 10
13/21-
CO-
21		 male/
adult
PBL		 n.a. 47,XY,+mar[59%]/
46,XY[41%]		 mar(13 or 21) cen13/21 left variocele and cryptorchidism {40} case 12
13/21-
CO-
22
to 24		 n.a./
prenatal		 AF 2x maternal; 1x de novo 47,+mar[?%] inv dup(13 or 21)
n.a.		 normal mothers and/ or normal ultrasound {45} 3 cases
13/21-
CO-
25		 female/
prenatal		 AF paternal 47,XX,+mar[100%] inv dup(13 or 21) cep 13/21; MLPA normal father, abnormal first trimester test {46}case 9
13/21-
CO-
26		 male/
prenatal		 AF de novo 47,XY,+mar[34%]/
46,XY[66%]		 mar(13 or 21) ceps normal child born {0} provided from Croatia
13/21-
CO-
27		 male/
prenatal		 AF n.a. 47,XY,+mar[100%] inv dup(13 or 21) ceps normal child born {48} case 25