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

- sSMC -

CHROMOSOME (1)/5/19

References

 

             
  Cases without
clinical findings
3 Cases with
clinical findings
3    
  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  
  05/19-O-p11/
1-1
female/
36y
PBL n.a. 47,XX,+mar[50%]/
46,XX[50%]
min(5)(:p11q11.1:) or min(19)(:p11q12:) cenM, subcenM normal woman, unfulfilled wish for children {0} provided by Wagner, Stibbe, Hannover, Germany  
                     

 

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  
  05/19-
CO-1
female/
1m
PBL
cell line at ECACC DD0617
de novo 47,XX,+mar[50%]/
46,XX[50%]
in cell line no marker acc to {5}
mar
(5 or 19)
FISH with all available centromeric probes; UPD-test clinically normal; studied due to failure to thrive, severe floppiness and pneumonia at 3w. {1} case 20
{3} case 10
{5} case 16}
 
  05/19-
CO-2
male/
prenatal
AF de novo 47,XY,+mar[28]/
46,XY[22]
r(1 or 19) FISH with all available centromeric probes, telomeric probes see below {4} case 5  
Amniocentesis due to a Down syndrome risk of 1/170 on maternal serum triple marker screening, child born at 41 weeks gestation, and at three months of age was reported to be phenotypically normal.
                     

 


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  
  05/19-
W-1
male/
child
PBL n.a. 47,XY+mar1[14]/ 47,XY,+mar2[2] min(1)(:p11q11:) or min(5)(:p11q11.1:) or min(19)(:p11q11)
(mar2 is duplication of mar1)
cenM, subcenM, 1q12 hyperactivity, short stature, high arched palate. Long face. Short fingers. relatively large penis {0} provided by Dr. M.Sagai, Jerusalem, Israel  
  05/19-
W-2

female/
12y

PBL n.a. 47,XX,+mar[70%]/
46,XX[30%]
min(1)(:p11q11:) or min(5)(:p11q11.1:) or min(19)(:p11q11) cenM, subcenM DD, MR, freckles GGB02438F, 2197 provided by Teleton foundation, Italy
 
                     

 

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  
  05/19-
CW-1
male/
prenatal
CH/PBL de novo 47,XY,+mar1[27%]/
47,XY,+mar2[13%]/
47,XY,+mar3[20%]/
46,XY[40%]
see below
mar1 = min(5 or 19)
mar2 = dic(5 or 19)
mar3 = ?
FISH with all available centromeric probes see below
{3} case 11  
Chorion biopsy due to advanced maternal age; at 14m large head (98. centile,  frontal bossing, epicanthic folds, hypotonia, developmental delay. (in CH mar in 60%; at birth mar in 60% of PBL; frequency given above is from 14m)
  05/19-
CW-2
n.a./
prenatal
AF de novo 47,+mar[?%] r(1 or 5 or 19) n.a. cystic hygroma, TOP {7} 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  
  05/19-
U-1
female/
7y
PBL
cell line at ECACC DD1145
de novo 47,XX,+mar[25]/
46,XX[9]
mar(5 or 19) FISH with all available centromeric probes;
UPD-test
clinically normal according to {1}; large head, frontal bossing, hypotonia, epicanthic folds, developmental delay, floppy according to ECACC {1} case 19
{2} case 22
 
  05/19-
U-2
female/
prenatal
AF de novo 47,XX,+mar[80%]/
46,XX[20%]
min(1)(:p11q11:) or min(5)(:p11q11.1:) or min(19)(:p11q11) cenM; subcenM;
UPD-test
amniocentesis due to advanced maternal age; no further information available {0} provided by Genteq, Hamburg, Germany  
  05/19-
U-3
female/
prenatal
AF de novo 47,XX,+mar[?100%] min(1)(:p11q11:) or min(5)(:p11q11.1:) or min(19)(:p11q11) cenM; subcenM amniocentesis due to advanced maternal age; no US abnormalities. TOP. No dysmorphism in autopsy {0} provided by Dr. Bhatt, Sucheta, USA  
  05/19-
U-4 to
U5
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(1/5/19) centromeric probes no info available {6} 2 cases  
  05/19-
U-6
moved to 19-U-17 {0} provided by Dr. Eiben, Oberhausen, Germany  
  05/19-
U-7
female/
prenatal
AF n.a. 47,XX,+mar[27]/
46,XX[11]
min(5)(:p11q11.1:) or min(19)(:p11q12:) cenM; subcenM amniocentesis due to advanced maternal age; Nno further info available {0} provided by Dr. Mehnert, Neu-Ulm, Germany