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

tl_files/tiny_templates/Bilder TL/sSMC/prev.jpg

non-acrocentric-derived CHROMOSOMES

tl_files/tiny_templates/Bilder TL/sSMC/next.jpg

References

 

Cases without
clinical findings

0

similar imbalances
no clinical findings
Cases with
clinical findings

2

similar imbalances
with clinical findings
symptoms
Cases without
clear clinical correlation
28 Cases with
complex sSMC
2
Cases with
discontinous sSMC
0 Cases with
UPD and sSMC

n.a.
Cases with
neocentromeres
0 similar imbalances DIS-
CLAIMER
tumor 0

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}  
  u-
W-3
see u-Uc-1  
                     

 


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}  
                     

 

Cases with complex sSMC (Uc)

 
  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-
Uc-1
female/
postnatal
PBL n.a. 47,XX,+mar[60%]/
46,XX[40%]
ish der(3 or 11) t(3;11)(q26.3qter;
q23.3qter) (RP11–362K14+;
RP11–496N6+)
aCGH
FISH
DD, seizures, trichotillomania, behavior
problems, madelung deformity
{13} case P14  
  u-
Uc-2
male/
30y
PBL n.a. 47,XY,+mar[50%]/
46,XY[50%]

der(?)
contains material from 8q22.3-8q23.1, 9q33.3-9q34.11, 2 regions from 14q21.1, 15q21.2 and 21q21.1

aCGH
midi and reverse FISH
psychological problems, infertile, obesity, gynekomastia [0} provided by Dr. M. Stumm, Berlin, Germany  
                     

 

Cases with discontinous sSMC (Ud)

 

 
  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-
Ud-1
                 
                     

 

Cases with UPD (Uu)