SMCs derived from the X

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
05/19-O-p11/ 1-1	female	36y	PBL	n.a.	47,XX,+mar[50%]/ 46,XX[50%]	min(5)(:p11→q11.1:) or min(19)(:p11→q12:)	cenM, subcenM	n.a.	normal woman, unfulfilled wish for children	{0} provided by Wagner, Stibbe, Hannover, Germany

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
05/19-CO-1	female	1m	PBL cell line at ECACC DD0617	de novo	47,XX,+mar[50%]/ 46,XX[50%] in cell line no marker acc to {5}	mar(5 or 19)	FISH with all available centromeric probes	no UPD 5 or 19: informative markers: D5S392; APOC2	clinically normal; studied due to failure to thrive, severe floppiness and pneumonia at 3w.	{1} case 20 {3} case 10 {5} case 16}
05/19-CO-2	male	prenatal	AF	de novo	47,XY,+mar[28]/ 46,XY[22]	r(1 or 19)	FISH with all available centromeric probes, telomeric probes	n.a.	Amniocentesis due to a Down syndrome risk of 1/170 on maternal serum triple marker screening, child born at 41 weeks gestation, and at three months of age was reported to be phenotypically normal.	{4} case 5

_{_______________________________________________________________________________________}

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
05/19-W-1	male	child	PBL	n.a.	47,XY+mar1[14]/ 47,XY,+mar2[2]	min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11) (mar2 is duplication of mar1)	cenM, subcenM, 1q12	n.a.	hyperactivity, short stature, high arched palate. Long face. Short fingers. relatively large penis	{0} provided by Dr. M. Sagai, Jerusalem, Israel

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
05/19-CW-1	male	prenatal	CH/PBL	de novo	47,XY,+mar1[27%]/ 47,XY,+mar2[13%]/ 47,XY,+mar3[20%]/ 46,XY[40%] (in CH mar in 60%; at birth mar in 60% of PBL; frequency given above is from 14m)	mar1 = min(5 or 19) mar2 = dic(5 or 19) mar3 = ?	FISH with all available centromeric probes	n.a.	Chorion biopsy due to advanced maternal age; at 14m large head (98. centile), frontal bossing, epicanthic folds, hypotonia, developmental delay.	{3} case 11
05/19-CW-2	n.a.	prenatal	AF	de novo	47,+mar[?%]	r(1 or 5 or 19)	n.a.	n.a.	cystic hygroma, TOP	{7} 1 case

_{_______________________________________________________________________________________}

case no.	gender	age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final FISH result of the sSMC	FISH methods	UPD result	clinical symptoms	reference
05/19-U-1	female	7y	PBL cell line at ECACC DD1145	de novo	47,XX,+mar[25]/ 46,XX[9]	mar(5 or 19)	FISH with all available centromeric probes	no UPD 5 or 19: informative markers: D5S392; APOC2	clinically normal according to {1}; large head, frontal bossing, hypotonia, epicanthic folds, developmental delay, floppy according to ECACC	{1} case 19 {2} case 22
05/19-U-2	female	prenatal	AF	de novo	47,XX,+mar[80%]/ 46,XX[20%]	min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11)	cenM; subcenM	no UPD 19: informative markers: D19S1034, D19S245, D19S178, D19S589, D19S254	amniocentesis due to advanced maternal age; no further information available	{0} provided by Genteq, Hamburg, Germany
05/19-U-3	female	prenatal	AF	de novo	47,XX,+mar[?100%]	min(1)(:p11→q11:) or min(5)(:p11→q11.1:) or min(19)(:p11→q11)	cenM; subcenM	n.a.	amniocentesis due to advanced maternal age; no US abnormalities. TOP. No dysmorphism in autopsy	{0} provided by Dr. Bhatt, Sucheta, USA
05/19-U-4 to U5	n.a.	n.a.	n.a.	n.a.	47,+mar[?%]	mar(1/5/19)	centromeric probes	n.a.	no info available	{6}2 cases
05/19-U-6	moved to 19-U-17									{0} provided by Dr. Eiben, Oberhausen, Germany
05/19-U-7	female	prenatal	AF	n.a.	47XX,+mar[27]/ 46,XX[11]	min(5)(:p11→q11.1:) or min(19)(:p11→q12:)	cenM; subcenM	n.a.	amniocentesis due to advanced maternal age; No further info available	{0} provided by Dr. Mehnert, Neu-Ulm, Germany

_{_______________________________________________________________________________________}

Cases without clinical findings	3	Cases with clinical findings	3
Cases with unclear clinical correlation