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- sSMC -

arocentric derived CHROMOSOMES

References

 

             
  Cases without
clinical findings
10*** 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!
*** one more case at +21-cases


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-
O-9
female/
28y
PBL n.a. 47,XX,+mar[100%] inv dup (acro)(p10) acro-cenM normal phenotype infertile {0} provided by Dr. Hehr, Regensburg, Germany  
  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; CENPB and CENP C normal man; planned ICSI {9} case 110
{13} case 4
 
  acro-
N-
mar/3
male/
43y
PBL n.a. 47,XY,+mar[100%] neo inv dup (acro)(p11) acro-cenM;  CENPB and CENP C normal man; infertile {0} provided by Dr. Demuth, Erfurt, Germany