TL

ChromosOmics - Database

Icon by Leon Liehr

- acro-CHROMOSOME -
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!

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
acro- N- mar/ 1	male/ 27y	PBL	de novo	47,XY,+mar[100%]	neo inv dup (acro)(p11)	acro cenM; CENPB and CENP C	normal phenotype - infertility	{13} case 3
acro- N- mar/ 2	male/ 40y	PBL	n.a.	47,XY,+mar (metacentric)[39]/ 46,XY[11]	neo inv dup (acro)(p11) aCGH: no euchromatin detected	acro cenM; CENPB and CENP C	normal man; planned ICSI	{9} case 110 {13} case 4
acro- N- mar/ 3	male/ 43y	PBL	n.a.	47,XY,+mar[100%]	neo inv dup (acro)(p11)	acro cenM; CENPB and CENP C	normal man; infertile	{0} provided from Germany
acro- N- mar/ 4	male/ 15y	PBL	n.a.	47,XY,+mar[100%]	neo inv dup (acro)(p11)	acro cenM; CENPB and CENP C	normal man; hypogonadotroph hypogonadism	{0} provided from Germany

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
acro- N- mar/ 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
acro- N- IMB mar/ 1	-	-	-	-	-	-	-