tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC -

CHROMOSOME 13 or 21

References

 

             
  Cases without
clinical findings
98 Cases with
clinical findings
14 symptoms  
  Cases with
unclear clinical correlation
Cases with
neocentromeres
0 tumor
0
 
      DISCLAIMER      

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!


References

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) Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; 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
cytogenetics due to a 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
Amniocentesis due to advanced maternal age; clinically normal after birth {0} provided by Höls-Herpertz; Bensberg, 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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to earlymaternal age; 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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; clinically normal after birth and at 1y; mother normal {0} provided by Drs. Birgit Rommel Sabine Bartnitzke, Norbert Drieschner, Bremen, 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 amniocentesis due to advanced maternal age, normal child born - normal at 8 weeks {0}provided by Dr. Körner Berlin, 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 Amniocentesis due to advanced maternal age; clinically normal after birth, father normal {0} provided by Dr. Dana Kantarská, 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 Amniocentesis due to advanced maternal age; Father clinically normal {0} provided by Dr. Mazauric, Düsseldorf, Germany  
  13/21-
O-q10/
1-14
female/
prenatal
AF
(EKF-
cellbank)
maternal
(in mother 100%)
47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM Amniocentesis due to advanced  maternal age; Mother clinically normal {0} case provided by Dr. Huhle (Leipzig, Germany)  
  13/21-
O-q10/
1-15
female/
prenatal
AF paternal 47,XX,+mar[100%] inv dup(13 or 21)(q10) acrocenM; subcenM Amniocentesis due to advanced maternal age; Father clinically normal {0} case provided by Dr. J. Lastuvková. Ústi nad Labem, Czech Republic  
  13/21-
O-q10/
1-16
female/
prenatal
AF
(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; Chld develops normal. Father clinically normal {0} case provided by Dr. Kozlowski, Düsseldorf, 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 by Dr. Sarri, Athens, 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 by Dr. Schulze , Hannover, 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 by Dr. Niemann, Overath, 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 by W. Trawicki, Essen, 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 by Dr. Wafa, 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 by Dr. Spiros, 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 by Schulze, Hannover, 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 by Dr. Manolakos, Athens, 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/

2-1
female/
prenatal
AF de novo 47,XX,+mar[25] min(13 or 21)(q10) M-FISH
acro-cenM;
subcenM
Amniocentesis due to advanced maternal age; Pyelectasy on both spleens in ultrasound {0} provided by Dr. A. Dufke, Tübingen, 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)(:p11q10:)* all available centromeric probes normal at age of 5y {10} case 42618  
  13/21-
O-q10/
4-1
female/
adult
PBL
cell line at ECACC DD1175
maternal 47,XX,+mar[27]/
46,XX[4]
dic(13 or 21;14)(q10;q10)* all available centromeric probes mother and daughter both adult and normal, Daughter was studied due to history of miscarriages {19} case 26
{39} case 107
{52}
 
  13/21-
O-q10/
5-1
female/
prenatal
AF maternal 47,XX,+mar[100%] dic(13 or 21;15)(q10;q10)* centromeric probes mother normal and child normal at 5 y {28} case 6; {52}
 
  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 by Dr. Bartels, Tübingen, Germany
 
  13/21-
O-q11/
1-1
female/
prenatal
AF paternal 47,XX,+mar[15] min13 (pterq11:) or min21(pterq11.1:) cenM;
midi
Amniocentesis due to advanced maternal age; Pyelectasy on both spleens in ultrasound; father normal {0} provided by Dr. D. Missbach, Magdeburg, Germany  
  13/21-
O-q11/
1-2
male/
adult
PBL n.a. 47,XY,+mar[100%] min13 (pterq11:) or min21(pterq11.1:)
aCGH no euchromtin detected
cenM, acrocenM, subcenM
aCGH
see below {0} provided by Dr. D. Aktas, 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,  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 (pterq11:) or min21(pterq11.1:) cenM, subcenM advanced maternal age; father normal {0} provided by Dr. Lemmens, Aachen, Germany  
  13/21-
O-q11/
1-4
female/
adult
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] min13 (pterq11:) or min21(pterq11.1:) cenM, subcenM normal female, infertile {0} provided by Reprogenet, Spain  
  13/21-
O-q11/
1a-1
male/
prenatal
PBL n.a. 47,XY,+mar[50-75%]/ 46,XY[25-50%] min(13)(:p11.?1q11:) or min(21)(:p11.?1q11.1:) cenM;
subcenM
Amniocentesis due to advanced maternal age; no ultrasound abnormalities; child born without clinical symptoms {0} provided by Dr. Hanne Tittelbach, Nuremberg, Germany  
  13/21-
O-q11/
1a-2
female/
adult
PBL n.a. 47,XX,+mar[20%]/ 46,XX[80%] min13 (:p11.1q11:) or min21(:p11.1q11.1:) acrocenM;
subcenM
normal female {0} provides by Dr. I. Bartels, Tübingen, 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 Amniocentesis due to advanced maternal age; 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, studied due to infertility

{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 Amniocentesis due to advanced maternal age; clinically normal after birth {0} provided by Dr. Mehnert, Neu-Ulm, 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, fertility problems {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 by Drs. Rudolf, Rommel Bartnitzke, Drieschner, Bremen, 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, fertility problems (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 by Dr. C. Fuster, 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 by Dr. Nehemia, 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 by Dr. Borochowitz, 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 by Dr. Vesic, Belgrade, Serbia  
  13/21-
O-q11/
2-14
female/
prenatal
AF
(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 by Dr. Ergun, Ankara, Turkey  
  13/21-
O-q11/
2-15
male/
prenatal
AF n.a. 47,XY,+mar[19/8]/
46,XY[21/12]
inv dup(13)(q11) or inv dup (21)(q11.1) cep probes detected prenatally, normal baby born {50}  
  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 by Dr. Soler , Barcelona, 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 by Drs. Wagner/ Stibbe, Hannover, 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 by Carme Fuster (Barcelona, 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 by Nina Ilic, Belgrade, Serbia
 
  13/21-
O-q11/
4-1
male/
adult

PBL
sperm

n.a. 46,XY,t(13;21)(q11;q11.1) n.a. normal male, infertile; {57} 1 case  
                     

 

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 Amniocentesis due to advanced maternal age; 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 Amniocentesis due to advanced maternal age; 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 both 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 by Dr. Stipolev, 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  
                     

 


References

Cases with clinical findings (W)

 

 
  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-
W-q10/
1-1
n.a./
postnatal
PBL n.a. n.a. inv dup(13 or 21)(q10) acro M Dysmorphic features; mental retardation {9} case 1  
  13/21-
W-q10/
1-2
n.a./
postnatal
PBL n.a. n.a. inv dup(13 or 21)(q10) acro M Dysmorphic features {9} case 5  
  13/21-
W-q10/
1-3
male/
15y
PBL n.a. 47,XY,+mar[100%?] inv dup(13 or 21)(q10) acro-cenM Intellectually impaired, developmental delay. {0} provided by Jason Anderson,
Brisbane, Australia
 
  13/21-
W-q10/
1-4

female/
2m

PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM
Dysmorphic features {0} provided by Dr. Wafa, Tunesia  
  13/21-
W-q11/
1-1
male/
9m
PBL de novo 47,XY,+mar [25] inv dup(13 or 21)(q11) cenM;
subcenM;
M-FISH
at age of 4 years: dwarfism; muscular dystrophy; LADD-syndrome {0} provided by Dr. J. Seidel, Jena, Germany  
  13/21-
W-q11/
1-2
male/
prenatal
AF/PBL de novo 47,XY,+mar[46%]/
46,XY[54%]
inv dup(13 or 21)(q11) all available centromeric probes Amniocentesis due to gamete interfalliopian transfer; developmentally normal with brachycephaly, reverse epicanthic folds and thin upper lip at age of 6m {14; 15} case 10  
  13/21-
W-q11/
1-3
male/
39y
PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q11) cenM;
subcenM;
mental retardation {0} provided by Dr. Lukretija Brecevic, Zagreb, Croatia  
                     

 

W-cases with unclear/insufficient characterization of the sSMC (CW):

 

 
  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-
CW-1
male/
41y
PBL
cell line at ECACC DD0876
de novo 47,XY,+mar[10%]/
46,XY[90%]
inv dup(13 or 21) n.a.; UPD-test mild mental retardation; mildly dysmorphic like rounded face, short stubby fingers, slightly lax joints {2} case 22
{20} case 5
 
  13/21-
CW-2
male/
prenatal
AF de novo 47,+mar[50%]/
46[50%]
mar(13 or 21) all available centromeric probes  pregnancy terminated; fetus with VSD, spina bifida occulta, bilateral cataracts {8} case 3  
  13/21-
CW-3
male/
10y
PBL n.a. 47,XY,+mar[100%] inv dup(13 or 21) different FISH-probes:
all centromeric  probes
overweight and gynecoid body habitus, small genitalia {7} case 2  
  13/21-
CW-4
male/
4y
PBL maternal 47,XY,+mar[100%] inv dup(13 or 21) FISH with all available centromeric probes see below {20} case 4  
marked developmental and speech delay at 4y; mother had mar in 44% of PBL and needed special schooling in reading and writing; maternal grandmother had mar in 1% of PBL
  13/21-
CW-5
male/
postnatal
PBL de novo 47,XY,+mar[94%]/
46,XY[6%]
min (13 or 21)* FISH with centromeric probes for acrocentric epicanthal fold, moderately retarded partial seizures {25} case 5  
                     

 

Further CW-cases without extensive details on the cases (CWw)

 
  GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
 
  13/21-
CWw-1
mentally retarded - no details on mar {21} 1 case  
  13/21-
CWw-2
abnormal phenotype; 1 inv dup {43} 1 case  
         

 


References

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  
  13/21-
U-1
n.a./
n.a.
n.a. n.a. n.a. mar(13 or 21) n.a. n.a. {17}  
  13/21-
U-2
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(13 or 21) FISH with all available centromeric probes see below {10} case 6  
Amniocentesis due to advanced maternal age; no information about pregnancy outcome
  13/21-
U-3
n.a./
prenatal
AF n.a. n.a. min(13or21)(pterq10:) acro M see below {9} case 4  
n.a. amniocentesis due to enhanced maternal age; no information about pregnancy outcome
  13/21-
U-4
female/
5m
PBL de novo 47,XX,r(13)(p11q34),+mar[100%] min(13 or 21) centromeric probe 13/21 see below {12; 13}  
delay of growth and development plus dysmorphic features "in concordance with a del(13qter) genotype"
  13/21-
U-5
see mult 2-12   {14;15} case 20  
  13/21-
U-6
see mult 2-13   {14;15} case 21a and 21b  
  13/21-
U-7
male/
prenatal
AF de novo 47,XY,+mar[30%]/
46,XY[70%]
inv dup(13 or 21)(q10) FISH with all available centromeric probes see below {16} case 2  
Amniocentesis due to advanced maternal age; child normal in ultrasound
  13/21-
U-8
female/
prenatal
CH de novo 47,XX,+mar[100%] der(13 or 21)t(13 or 21;18)(q11;p11.2) midi; cep 13/21 see below {22; 52}  
Amniocentesis due to advanced maternal age; child normal in ultrasound at 23rd week;
  13/21-
U-8a
female/
4y
PBL maternal 47,XX,inv(9)pat,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1) SKY, cenM;
subcenM
see below {52}  
Child studied due to developmental delay; at 22y obese, psychomotorically slightly slow person, with normal height and borderline intelligence (IQ 89, clinically 70-80) normal puberty but irregular menstruation cycles, no remarkable dysmoprhic sings. She went to normal schools where she was a poor, but reliable student, education to a sewing technician.
mother considered as normal and sSMC in her recognized after birth of her 1st child with Down syndrome with sSMC as well.
  13/21-
U-8b
male/
13y
PBL de novo 47,XY,+mar[40] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1) CGH; FISH with cep-probes and locus-specific probes see below {32; 52}  
Born by vaginal delivery after a full-term uneventful pregnancy. Birth weight 3,700 g, height were 52 cm, APGAR score 10 at one and five minutes;  neonatal period uneventful; Bilateral cryptorchidism was noted. At 6 weeks, operated for hypertrophic pyloric stenosis. Psychomotor development mildly delayed with walking at 20 months. At 6 years after a few months of going to school, lack of concentration, hyperactivity and lack of autonomy were reported. Hyperphagia was also reported. At 7 years, the boy underwent surgery for bilateral cryptorchidism. At age 13 years moderate mental retardation and is attending a school specialized for children with mild mental retardation. Growth regular on +SD from birth to the age of 7 years. Then, there was a progressive acceleration, and at 13 years, height was 172 cm (+3 SD). At 7 years, weight at the 90th centile, and at age of 13 years, weight was 70 kg (>97th centile). Pubertal development was P1A0. Mild facial dysmorphic features were noted: thin and flat midface with receding forehead, thick arched eyebrows, hypotelorism, upslanted palpebral fissures without epicanthus, normally implanted but malformed ears, thin nose and lips.
  13/21-
U-8c
female/
postnatal; newborn
PBL maternal 47,XX,+mar[100%] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: 0.00-17.17
FISH with cep-probes and locus-specific probes, subcenM, midi;
array-CGH
see below {0}
{36; 52}
{41} case 16
 
fetal movements appeared during the fifth gestational month; abdominal ultrasound of the 5th month showed an artrial septal defect (ASD) and a right club foot. birth at 42 weeks of gestation by normal vaginal delivery.  weight 2,760 g (3<p<25),  length 49 cm (25<p<50) an occipito-frontal circumference (OFC) of 33 cm (p25). The prenatally observed findings were confirmed, and the infant had no other congenital defect. The parents are phenotypically normal, even though the mother seems to have a border line IQ. At present the child is two years old, and his development is normal without any delay.
  13/21-
U-8d
 
female/
postnatal
PBL de novo 47,XY,+mar[20] der(acro)t(acro;18)(q11;p11.21)
array, chr. 18: 0.00-14.22
aCGH see below {47} case 6; {52}  
global developmental delay, MR, upslanting palpebral fissures; besides patient has a 14kb del in 11p25.5 mat
  13/21-
U-8e
male/
prenatal
PBL maternal 47,XY,+mar[100%] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: 0.00-17.17
FISH with cep-probes and locus-specific probes, subcenM, midi;
array-CGH
see below {49; 52}  
mother normal, child nonetheless terminated
  13/21-
U-8f
 
female/
17y
PBL de novo 47,XX,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: whole short arm
FISH; aCGH see below {51} case 1; {52}  
nonsyndromic moderate intellectual disability and healthy nonconsanguineous parents
  13/21-
U-8g
 
male/
prenatal
AF de novo 47,XY,+mar[20] der(13)t(13;18)(q11;p11.21) or der(21)t(18;21)(p11.21q11.1)
array, chr. 18: whole short arm;
? 14.9 Mb
FISH; aCGH see below {51} case 2; {52}  
nonsyndromic moderate intellectual disability and healthy nonconsanguineous parents
  13/21-
U-9 to
 U-11
n.a./
n.a.
n.a. n.a. 47,+mar[?] mar(13 or 21) all centromeric probes  n.a. {26} 3 cases  
  13/21-
U-12
male/
prenatal
AF de novo 47,XY,+mar[14]/
46,XY[3]
inv dup(13 or 21)(q10) acro-cenM;
subcenM; UPD-test
Amniocentesis due to advanced maternal age; no ultrasound abnormality in week 22; no further Information available. {0} provided by Dr. Schleussner,
Jena, Germany
 
  13/21-
U-13
male/
prenatal
AF de novo 47,XY,+mar[17]/
46,XY[7]
inv dup(13)(q11) or inv dup (21)(q11.1) acro-cenM;
subcenM;
UPD-test
Amniocentesis due to advanced maternal age; too much amniotic fluid and pyelon enlargement, patient lost during follow up {0} provided by Dr. Kistner, Schwerin, Germany  
  13/21-
U-14
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cenM;
subcenM
Amniocentesis due to advanced maternal age;  patient lost during follow up {0} provided by Carme Fuster, Barcelona, Spain  
  13/21-
U-15
female/
prenatal
AF n.a. 47,XX,+mar[12]/
46,XY[6]
inv dup(13)(q11) or inv dup (21)(q11.1) cenM;
subcenM
Amniocentesis due to advanced maternal age;  patient lost during follow up {0} provided by Carme Fuster, Barcelona, Spain  
  13/21-
U-16
n.a./
prenatal
AF de novo 47,+mar[?%] mar(13 or 21) n.a. n.a. {29}  
  13/21-
U-17
female/
prenatal
AF de novo 47,XX,+mar[100%] min(13) (pterq11~12.1:) or min(21)(pterq11.1:) centromeric probes;
subcenM
Amniocentesis due to advanced maternal age;  patient lost during follow up {0} provided by Dr. Basaran (Turkey)  
  13/21-
U-18 to
U-21
male/
prenatal
AF de novo 47,XY,+mar[100%] mar(13 or 21) centromeric probes patient lost during follow up or terminated {30} cases 28-29, 33, 36  
  13/21-
U-22
female/
prenatal
AF n.a. 47,XX,+mar[15] inv dup(13or21)(q10) centromeric probes, subcenM Amniocentesis due to advanced maternal age;  patient lost during follow up or terminated {0} provided by Drs. Krause and Plonka, Potsdam, Germany  
  13/21-
U-23
female/
stillborn
PBL n.a. 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal at autopsy {19} case 10  
  13/21-
U-24
female/
prenatal
AF de novo 47,XX,+mar[100%] mar(13 or 21) cen13/21 normal at autopsy {23} case 9  
  13/21-
U-25 to
U26
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(13 or 21) n.a. normal at autopsy {33}2 cases  
  13/21-
U27
moved to 13/21-U-8b {32}  
  13/21-
U28
13/21-U-8c {0}
{36}
{41} case 16
 
  13/21-
U29 to
U30
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(13 or 21) centromeric probes no info available {45}2 cases  
  13/21-
U31
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(13 or 21) SKY, cep probes no info available {37} 1 new case  
  13/21-
U32
n.a./
postnatal
AF n.a. 47,+mar[24%]/
46[76%]
mar(13 or 21) n.a. subcenM with 3 BACs; Mild dysmorphic features; normal head ultrasound; normal renal ultrasound; normal development at 6 months of age. {38} case 26  
  13/21-
U33
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(13 or 21) n.a. n.a. {44} 1 case  
  13/21-
U34
female/
prenatal
CH n.a. 48,XX,+15,+mar[100%] inv dup(13)(q11) or inv dup (21)(q11.1) cenM; subcenM miscarriage in week 10 {0} provided by Dr. Petersen, Athens, Greece  
  13/21-
U35
male/
prenatal
AF n.a. 48,XXY,+mar[100%] min(13or21) cep probes, MLPA hygroma colli, single umbilical artery {46} case 8  
  13/21-
U36
female/
prenatal
AF n.a. 47,XX,+mar[40%]/
46,XX[60%]
inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age - no further info available {0} provided by Dr. Belitz , Berlin, Germany  
  13/21-
U37
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
white spot in sonography, no further info {0} provided by Dr. Kobelt, Chemnitz, Germany  
  13/21-
U38
female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
min(13)(:p11.1q11:) or min(21)(:p11.1q11.1:) cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Mehnert, Neu-Ulm, Germany
 
 
  13/21-
U39
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
no further info {0} provided by Dr. M.B. Petersen, Athens, Greece
 
 
  13/21-
U40
male/
prenatal
AF n.a. 47,XY,+mar[100%] r(13)(:p11.2q11:) or r(21)(:p11.2q11.1:) acro-cenM;
subcenM
no further info {0} provided by Dr. Alves, Portugal
 
 
  13/21-
U41
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Bartels, Göttingen, Germany  
  13/21-
U42
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Alves, Portugal  
  13/21-
U43
n.a./
prenatal
AF n.a. 47,XN,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Borochowitz, Israel
 
  13/21-
U44
female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
min(13)(pterq11:) or min(21)(pterq11.1:) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Alves, Portugal  
  13/21-
U45
female/
prenatal
AF n.a. 47,XY,+mar[13]/
46,XY[2]
inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Alves, Portugal  
  13/21-
U46
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Huhle, Leipzig, Germany
 
  13/21-
U47
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(13 or 21)(q10) acro-cenM;
subcenM
advanced maternal age, no further info {0} provided by Dr. Alves, Portugal  
  13/21-
U48
n.a. AF n.a. n.a mar(13 or 21) cep probes n.a. {54} 1 case  
  13/21-
U49
male/
prenatal
AF n.a. 47,XY,+mar[5]/
46,XY[73]
min13 (pterq11:) or min21(pterq11.1:) acro-cenM;
subcenM
advanced maternal age, no further info Dr. Alica Valachova, Trencin, Slovakia  
  13/21-
U-50
female/
8y
PBL n.a. 48,XX,+mar1,+mar2[49%]/
46,XX,+mar1[51%]
del(18)(q11.2q21.33),
der(13)(:p11.2p11:)
or der(21)(:p11.2q11.1:)
der(18): aCGH: 19,374,451- 57,612,427
cenM;
subcenM
heart defects (ASD, Patent ductus arteriousus), malformed ears, strabism, small mouth, thick lips, malocclusion, MR, DD, autoaggression, does not feal pain {0} provided by Dr. Agata Kowalska-Pawlak, Zabrze, Poland  
  13/21-
U-51
n.a./
prenatal
PBL n.a. 47,XN,+mar[100%] inv dup(13 or 21)(q10) acrocenM AMA {0} provided by Dr.Vesic, Belgrade, Serbia