TL

ChromosOmics - Database

Icon developed and provided by Leon B. Liehr, Jena, Germany

- non-acro- CHROMOSOME -
ABNORMAL

Cases without clinical findings		Similar imbalances – no sSMC
Cases with clinical findings	Similar imbalances - no sSMC		sSMC not well characterized
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!

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	female/ prenatal	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
-	-	-	-	-	-	-	-	-

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

case no.	gender/ age at diagnosis	studied material	de novo/ Inherited	GTG-banding and final FISH result	test methods	clinical symptoms	Reference
u- W- IMB- 1	-	-	-	-	-	-	-

W-cases with unclear/insufficient characterization of the sSMC (CW)

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- CW- 1	-	-	-	-	-	-	-	-