TL

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
*** 03- O- p12.3/ 1-1	female/ 37y	PBL	de novo	47,XX,+mar[100%]	min(3)(:p12.3→q13.11:) aCGH: 74.67-104.78 FISH-data: RP11-312H1 (87.6 MB) on sSMC	aCGH (Agilent 44000); FISH	normal female with one 15 years old daughter. One miscarriage at 5 months of gestation	{0} provided from India
03- O- p12.3/ 2-1	female/ 31y	PBL	n.a.	47,XX,+mar[100%]	min(3)(:p12.3→q11.1:) aCGH: 78.937-90,305	aCGH ; subcenM-FISH	normal female, infertile	{0} provided from Greece
03- O- p12.2/ 1-1	male/ 45y	PBL	n.a.	47,XY,+mar[15]	min(3)(:p12.2→q11.1:) FISH-data: RP11-91A15 (89.6 MB) on sSMC	cenM subcenM	ICSI-patient; no clinical signs	{1} case 8 {2} case 2 {37} case 6 {56} case 3-1
03- O- p12.1/ 1-1	male/ 51y	PBL	n.a.	47,XY,+mar[6]/ 46,XY[14]	min(3)(:p12.1→ q11.1~11.2:)[55]/ min(3)(:p11.1→ q11.1~11.2: :q11.1~11.2→ p11.1:)[2] FISH-data: RP11-91A15 (89.6 MB) RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC	midi	normal male with fertility problems and depression; cryptorchidism, small testes, umb. and ing. hernia.	{37} case 7 {56} case 3-2
03- O- p12.1/ 2-1	female/ prenatal	AF	n.a.	47,XX,+mar[16]/ 46,XX[33]	dic(3)(:p12.1→q11.2: :q11.2→p12.1:)[12]/ min(3)(:p12.1→q11.2:)[3]/ r(3)(::p12.1→q11.2::)[1] FISH-data: RP11-91A15 (89.6 MB) and RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC	cenM subcenM aCGH	see below	{56} case 3-3
03- O- p12.1/ 2-1	Amniocentesis CVS in week 14+4 due to advanced risk in 1. trimenon screening (1:280), normal child born with APGAR 9/9/10; weight 3650g, length 50cm; at 8 years developmental retardation, microcephaly, seizures, no language
03- O- p12.1/ 2-2	female/ 29y	PBL (EKF- cellbank)	n.a.	47,XX,+mar[17%]/ 46,XX[83%]	r(3)(::p12.1→q11.1::)[14]/ min(3)(:p12.1→q11.1:)[5]/ min(3)(:p12.1→q11.1: :q11.1→p12.1:)[2] FISH-data: RP11-91A15 (89.6 MB) on sSMC; aCGH: 89,269,203-90,149,349	midi subcenM aCGH	normal female	{0} provided from Germany
03- O- p12.1/ 3-1	female/ prenatal	AF/ PBL	de novo	47,XX,+mar[19]/ 46,XX[6] in PBL 18:17	min(3)(:p12.1→ q12.3:) array-data: (hg19) 85,362,707- 102,795,128	aCGH	normal at age of 4 years	{{54} case 4 {56} case 3-4 {59} case 4
03- O- p12.1/ 4-1	female/ 37y	PBL	n.a.	47,XX,+mar[17]/ 46,XX[33]	mar(3)(:p12.1→q11.1:) aCGH hg19: 83,610,388-90,192,224 aCGH hg18; 83,810,388-89,400,000	aCGH	infertility (in vitro failures)	{0} provided from Poland
03- O- p12.1/ 4-2	male/ 50y	PBL	n.a.	47,XY,+mar[8]/ 46,XY[2]	r(3)(::p12.1→q11.1::)[6]/ min(3)(:p12.1→q11.1:)[2]	cenM subcenM	normal male, repeated abortions in partnership	{0} provided from Germany
03- O- p12/ 1-1	male/ prenatal	AF	de novo	47,XY,+mar[100%]	min(3)(:p12→q10:)	midi	Amniocentesis due to advanced maternal age. A healthy boy was delivered at term. At 20m of age the development of the child was still normal	{8} case 1
03- O- p11.2/ 1-1	after aCGH moved to 03-O-p12.3/1-1
*** 03- O- p11.2/ 2-1	female/ 35y	PBL	n.a.	47,XX,+mar[5]/ 46,XX[10]	r(3)(:p11.2→q12.1:) aCGH: 3p12.3q13.11 77,503,851-105,005,564 Mb FISH-confirmed	cep probes, subcenM; MCB; aCGH	Physically normal female; in childhood repeated infections, DD and language development problems	{51} case 1 {52} case Sr-3
03- O- p11.2/ 3-1	female/ adult	PBL	n.a.	47,XX,+mar[49]/ 46,XX[11]	min(3)(:p11.2→q13.1:) aCGH: 93,500,001-103,839,892 Mb	cep probes, NGS	infertile	{60} case2
03- O- p11.1/ 1-1	male/ newborn	PBL	de novo	47,XY,+mar[100%]	min(3)(:p11.1→q11.1:)	cenM, subcenM	studied postnatal cytogenetically due to free trisomy 3 in chorion	{0} provided from Austria
03- O- p11.1/ 1-2	male/ prenatal	AF	de novo	47,XY,+mar[25]/ 46,XY[19]	min(3)(:p11.1→q11.1:)	cenM, subcenM	amniocentesis due to M. Hodgkin and chemotherapy 10 years ago; normal child born and normal at 2 years of age	{0} provided from Germany
03- O- p11.1/ 1-3	male/ prenatal	CH	n.a.	47,XY,+mar[22]/ 46,XY[189]	min(3)(:p11.1→q11.1:)	cenM, subcenM	in sonography one lacking kidney; apart from that normal child born	{0} provided from Germany
03- O- p11.1/ 1-4	male/ adult	PBL	n.a.	47,XY,+mar[84%]/ 46,XY[16%]	min(3)(:p11.1→q11.1:)	cenM, subcenM	normal male, infertile	{0} provided from Greece
03- O- p11.1/ 1-5	male/ prenatal	AF	n.a.	47,XY,+mar[~10%]/ 46,XY[~90%]	min(3)(:p11.1→q11.1:)	cenM, subcenM	normal male, infertile	{0} provided from Spain
03- O- p11.1/ 2-1	female/ adult	PBL	de novo	47,XX,+mar[100%]	min(3)(:p11.1→q11.2:)	pAEO.68; RP11-631O4	Studied due to one second trimester miscarriage	{46} case P-1, {55}
03- O- p11.1/ 2-2	male/ 33y	PBL	n.a.	47,XY,+mar[15%]/ 46,XY[85%]	min(3)(:p11.1→q12:)	cenM, subcenM	normal male, infertile	{0} provided from Russia
03- O- p11.1/ 2-3	female/ prenatal	AF/ chord blood	de novo	47,XX,+mar[4]/ 46,XX[46] in blood sSMC 24%	min(3)(:p11.1→q12:) aCGH (hg19: 93,649,973-97,137,764)	aCGH	normal female born	{61}
03- O- p11.1/ 4-1	female/ 33y	PBL	n.a.	47,XX,+mar[9]/ 46,XX[1]	min(3)(:p11.1→q12.1:)[6]/ min(3)(:p11.1→q11.2:)[3]	cenM, subcenM	normal female, infertile	{0} provided from Germany
*** 03- O- p10/ 1-1	male/ prenatal	AF	mat [33%]	47,XY,+mar[41%]/ 46,XY[59%]	r(3)(::p10→q13.1::) FISH-data: RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC	midi	AMA. Mother normal; at nine months of age the development of the child was still normal.	{5} cases E; F
*** 03- O- p10/ 2-1	n.a./ prenatal	CH	mat [5-6%]	47,+mar[56%]/ 46[44%]	r(3)(::p10→q12::) FISH-data: RP11-21I16 (96.01 MB - hg2006; 94.53 MB - hg2009) on sSMC	midi; UPD-test	Normal at autopsy; mother normal	{5} cases B; C