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- sSMC -

arocentric derived CHROMOSOMES

References

 

             
  Cases without
clinical findings
9 Cases with
clinical findings
0 symptoms  
  Cases with
unclear clinical correlation
Cases with
neocentromeres
2 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  
  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[20%]
inv dup (acro)(p10)* M-FISH normal phenotype with fertility problems and azoospermia {10; 12}  
  acro-
O-7
male/
adult
PBL n.a. 47,XY,+mar (metacentric)[23]/
46,XY[7]
inv dup (acro)(p10) acro-cenM
midi
normal phenotype infertile {0} provided by Anton Brovko. Ukraine  
  acro-
O-8
male/
adult
PBL n.a. 47,XY,+mar (metacentric)[50%]/
46,XY[50%]
inv dup (acro)(p10) acro-cenM normal phenotype infertile {0} provided by Dr. Ergun, Turkey
 
  acro-15
O-1
male/
prenatal
AF n.a. 47,XY,+mar (metacentric)[35%]/
46,XY[65%]
inv dup (15)(p10)
D15Z1 in 15q11.2 present twice, but no alpha-satellite
acro-cenM advanced maternal age {0} provided by Dr. Losan. Czech Rep
 
                     

 


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)
aCGH: no euchromatin detected
acro-cenM; midi; acro cenM; CENPB and CENP C normal man; planned ICSI {9} case 110
{13} case 4