TL

ChromosOmics - Database

Icon by Leon Liehr

- Y-CHROMOSOME -
UNCLEAR

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(Y)mat or pat

Cases with unclear clinical correlation (U)

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
0Y- U- 1	female/ prenatal	AF	de novo	47,XY,+mar[4]/ 46,XY[133]	idic(Y)(q21)	centromeric probe X + Y; locus specific probe SRY	chronically colitis ulcerosa with medication in the mother; child born without symptoms; idic turned out to be a cultural artifact	{0} provided by Dr. C. Kelbova, Cottbus, Germany
0Y- U- 2	male/ 3.5y	PBL	de novo	47,X,-Y,+marx2[100%]	min(Y)(:p11.31→q11.1:) min(Y)(:p11.2→q11.221:)	MCB	speech and language delay, short stature, mild DYS and Duane anomaly of the eye	{9}
0Y- U- 3	see mult 2-20
0Y- U- 4	male/ prenatal	PBL	de novo	47,XX,+mar[100%]	inv dup(Y)(p11.2)	aCGH	studied due to previous child with Down syndrome	{20} case P-13
0Y- U- 5	male/ prenatal	AF	n.a.	47,XY,+mar[100%]	mar(Y)(pter→q11:)	aCGH	detected prenatally; TOP	{22} case 11
0Y- U- 6	n.a./ prenatal	AF	de novo	47,XX,+mar[100%]	inv dup(Y)(p11.1)	SRY, cep	detected prenatally	{0} provided by Dr. Huhle, Leipzig, Germany
0Y- U- 7 to 24	male/ postnatal	PBL	n.a.	mos 47,XXY/ 47,XY,+mar	mar(Y)	cepY; cepX	Klinefelter syndrome	{25} 18 cases

Cases with complex sSMC (Uc)

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
0Y- Uc- 1	-	-	-	-	-	-	-	-

Cases with discontinous sSMC (Ud)

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
0Y- Uc- 1	-	-	-	-	-	-	-	-

Cases with UPD (Uu)

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
0Y- Uu- 1	-	-	-	-	-	-	-	-