ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #14 -                                                 
NEOCENTRIC
 
Cases without clinical findings
Similar imbalances – no sSMC
Cases with clinical findings
Similar imbalances – no sSMC
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases 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(14)mat UPD(14)pat UPD(14)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
14-
N-
q12/
1-1
see McCl-14-N-q12/1-1
14-
N-

qt32.1/
1-1
see PsMcCl-14-N-q32.1/1-1
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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
14-
N-
q/
1-1
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-
-
-
-
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-

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
14-
N-

IMB-
q23/
1-1
1 case der(17)t(14;17)
see also {55}
{44}
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