ChromosOmics - Database
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                          TL/sSMC-book.jpg tl_files/tiny_templates/Bilder
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                                                  CHROMOSOME #22 -                                                 
NEOCENTRIC

Cases without clinical findings
Similar imbalances - no sSMC
Cases with clinical findings
Similar imbalances - no sSMC
der(22)t(11;22) syndrome
der(22)t(8;22) syndrome
Cat-Eye-syndrome (CES)
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!


UPD (uniparental disomy) cases: UPD(22)mat UPD(22)pat UPD(22)mat or pat

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
22-
N-
p or q/
1-1
-
-
-
-
-
-
-
-

Cases with neocentromeres (N) - TUMOR

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

22-
N-
p or q/
1-1
-
-
-
-
-
-
-
-

N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference
22-
N-
IMB-
p10/
1-1
-
-
-
-
-
-
-