FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC non-acro -

           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)

 

none available yet

 

 

 

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  
  u-
W-1		 male/
6m		 PBL de novo 47,XY,+mar[100%] mar stains only with a reverse painting probe of itself midi and flow sorting with rev FISH born at term and well at birth; delayed milestones; divergent squint; nystagmus at age of 18m; ears low-set and prominent;  {8; 10, 11}
{12} case 5
  
  u-
W-2		 female/
prenatal		 AF n.a. 47,XX,+mar[100%] mar stains only with a reverse painting probe of itself midi with rev FISH no clinical info available {11}  
                     

 


 

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  
  u-
C-1
to 3		 various

prenatal

 AF familial or de novo 47,+mar n.a. n.a. none or n.a. {1}  
  u-
C-4		 various

postnatal

 PBL familial  47,+mar n.a. n.a. slight mental retardation {2}  
  u-
C-5		 ?

postnatal

 PBL ? 47,+mar n.a. n.a. multiple anomalies {3}original literature presently not available  
  u-
C-6
to 10		 various

postnatal

 PBL de novo 47,+mar n.a. n.a. multiple anomalies {4} plus review of literature before 1978  
  u-
C-11
to 25		 various

prenatal and postnatal

 AF and PBL familial or de novo 47,+mar n.a. n.a. multiple anomalies or normal {5}    
  u-
C-26		 male

16y

 PBL de novo 48,XY,+r,+mar[43%]/
47,XY,+r[14%]/
47,XY,+mar[18%]/
46,XY[25%]		 n.a. n.a. Hypogonadotrophic hypogonadism; several developmental milestones delayed, hypoplastic kidney, spina bifida oculta in L4, 5; mental retardation {6}  
  u-
C-27		 male

prenatal

 AF paternal
3/50 metaphases with mar		 47,XY,+r?[7]/
46,XY[1]		 n.a. wcpX, wcpY amniocenteses due to advanced  maternal age {7} case 5  
  u-
C-28		 female

5y

 PBL/
Fibroblasts		 de novo 47-51,XX,+mar1-5x/
[17.3%/33.6%/
30%/18.2%/0.9%]
46,XX[2.7%]		 n.a. n.a. multiple anomalies as described in {9} {9}  
                     

 

 

References