TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #2 -
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(2)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
02- N-1	n.a./ prenatal	AF	de novo	47,+mar[12%]/ 46[88%]	neo(2)	cep 2, wcp 2	abnormal triple test; normal child at birth	{45} case 14 {52}
02- N-2	see 02-N-q35/1-1
02-N- p21/ 1-1	see McCl-02-N-p21/1-1
02-N- q22/ 1-1	see McCl-02-N-q22/1-1
02-N- qt33/ 1-1	see PsMcCl-02-N-q33/1-1
02-N- q35/ 1-1	female/ 8y	PBL	de novo	47,XX,+mar[14]/ 46,XX[36]	r(2)(::q35→q36::)	M-FISH; cenM-FISH, subcenM-FISH; MCB; UPD test	dysmorphic features, multiple congenital malformations, psychomotor retardation	{26} case RS {27} case 3 {30} case Neo #2-2; {33}

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
02- N- p or qt/ 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
02- N- IMB- q/ 1-1	-	-	-	-	-	-	-