FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 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)

 

                     
  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  
  acro-
O-1		 male/
39y		 PBL n.a. 47,XY,+mar (bisatellited) n.a. n.a. five consecutive spontaneous abortions of partner and no live born children {1} case 1  
  acro-
O-2		 male/
31y		 PBL familial
(3 generations)		 47,XY,+mar (bisatellited) n.a. n.a. 9 years of infertility in partnership before first child {1} case 2  
  acro-
O-3		 female/
27y		 PBL n.a. 47,XX,+mar (metacentric) rev ish. acrop++ midi normal woman - a child was lost  a week 16 due to a karyotype 46,X,+mar {8} case 2  
  acro-
O-4		 moved to acro-N-mar/2    
  acro-
O-5		 male/
29y		 PBL n.a. 47,XY,+mar (metacentric)[25%]/
46,XY[75%]		 inv dup (acro)(p10) cenM, M-FISH, acro-cenM normal phenotype and no children in connection with OAT III syndrome {9} case 111  
  acro-
O-6		 male/
23 or 32y		 PBL n.a. 47,XY,+mar (metacentric)[80%]/
46,XY[25%]		 inv dup (acro)(p10)* M-FISH normal phenotype with fertility problems and azoospermia {10; 12}  
                     

 

 

References

Cases with clinical findings (W)

 

 none available

 

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  
  acro-
C-1
to 5		 various/
prenatal		 AF familial or de novo 47,+mar n.a. n.a. none or n.a. {2}  
  acro-
C-6
to
15		 various/
prenatal or postnatal		 AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. {3}  
  acro-
C-16
to 79		 various/
prenatal or postnatal		 AF or PBL familial or de novo 47,+mar n.a. n.a. none or n.a. review of literature before 1983 {3}  
  acro-
C-80		 various/
postnatal		  PBL familial  47,+mar (#15 was excluded) n.a. n.a. none or n.a.  {4}  
  acro-
C-81
to 111		 various/
prenatal and postnatal		  AF and PBL familial or de novo 47,+mar  n.a. n.a. none or n.a.  {5}  
  acro-
C-111
to 118		 various/
prenatal and postnatal		  AF and PBL familial or de novo 47,+mar  n.a. n.a. none or n.a.  {6}  
  acro-
C119		 female/
n.a.		 PBL familial 47,XX,+mar n.a. n.a. none in family; index case with Sturge-Weber syndrome {7}  
                     

 

 

References

Cases with neocentromeres (N)

 

 

                     
  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  
  acro-
N-
mar/1		 male/
27y		 PBL de novo 47,XY,+mar[100%] neo inv dup (acro)(p11) acro cenM; CENPB and CENP C normal phenotype - fertility problems {13} case 3
  
  acro-
N-
mar/2		 male/
40y		 PBL n.a. 47,XY,+mar (metacentric)[39]/
46,XY[11]		 neo inv dup (acro)(p11) acro-cenM; midi; acro cenM; CENPB and CENP C normal man; planned ICSI {9} case 110
{13} case 4