FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 13/21 -

           References

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?/
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  
  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 early  maternal 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 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 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/
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  
  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		 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		  
  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  
  13/21-
O-q11/
1-1		 female/
prenatal		 AF paternal 47,XX,+mar[15] min13 (pter→q11:) or min21(pter→q11.1:) 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 (pter→q11:) or min21(pter→q11.1:) cenM, acrocenM, subcenM 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/
1-4		 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		 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/
2-1		 male/
prenatal		 AF de novo 47,XY,+mar[12]/
46,XY[2]		 inv dup(13)(q11) or inv dup (21)(q11.1) cenM Amniocentesis due to advanced maternal age; no ultrasound abnormalities; child born without clinical symptoms {1} case 19  
  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  
  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		  
  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		  
  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  
  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)
array not informative		 cep probes; midi, array-CGH normal male, fertility problems {0}  
  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) {0} provided by J. Anderson, Brisbane, Australia  
  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 birn {0}provided by Dr. Vesic, Belgradem Serbia  
  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)  
                     

 

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

 

 

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-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 itself (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)

 

         
  case no.  clinical symptoms reference  
  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)(pter→q10:) 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}  

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 {0} provided by Dr. Aniko Ujfalusi - Hungary  

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}  

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}
{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-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) (pter→q11~12.1:) or min(21)(pter→q11.1:) 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