TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #(1)/5/19 -
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
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(1)mat	UPD(1)pat	UPD(1)mat or pat
UPD (uniparental disomy) cases:	UPD(5)mat	UPD(5)pat	UPD(5)mat or pat
UPD (uniparental disomy) cases:	UPD(19)mat	UPD(19)pat	UPD(19)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
05/19- N- pt or qt/ 1-1	-	-	-	-	-	-	-	-

Cases with neocentromeres (N) - TUMOR

case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding and final FISH result	test methods	clinical symptoms	Reference
05/19- 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
05/19- N- IMB p or q/ 1-1	-	-	-	-	-	-	-