TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #3 -
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
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(3)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
03- U- 1	see mult 2-1
03- U- 2	see mult 2-2
03- U- 3	see 03-CO-3
03- U- 4	female/ prenatal	AF	de novo	47,XX,+mar[100%]	r(3)	SKY	amniocentesis due to AMA normal ultrasound in weeks 18 and 24 of gestation	{19} case 4
03- U- 5	n.a./ prenatal	AF	de novo	47,+mar[63%]/ 46[37%]	r(3)(::p10→q12::)	midi	see below	{5} case D
03- U- 5	AMA. The parents elected to terminate the pregnancy in week 18. No fetal abnormalities were found at autopsy.
03- U- 6	see mult 2-14
03- U- 7	n.a./ n.a.	n.a.	n.a.	47,+mar[?%]	mar(3)	wcp probes	no info available	{38} 1 case
03- U- 8	see 03-Uu-1
03- U- 9	male/ prenatal	AF	n.a.	47,XY,+mar[100%]	min(3)(:p11.2~11.1→ q11.1~11.2:)	cenM, subcenM	n.a.	{0} provided from Portugal
03- U- 10	male/ prenatal	CH	n.a.	47,XY,+mar[7]/ 46,XY[18]	min(3)(:p11.21→ q11.2:)	midi, subcenM	CVS due to NIPT positive for trisomy 18	{0} provided from Germany

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
03- 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
03- Ud- 1	male/ prenatal	cord blood	n.a.	47,XY,+mar[3]/ 46,XY[10]	der(3)(:p12.1→q12.1: :q21→q23:)	midi	AMA, normal sonography	{0} provided from Germany

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
03- Uu- 1	female/ prenatal	CH, AF	de novo	47,XX,+mar[100%]	min(3)(:p12.2→q10:)* +3 in short term culture; mat UPD 3	BAC probes, MLPA; UPD-test	see below	{42} {45 case 1}
03- Uu- 1	twin pregnancy; in chorion (short term culture) in twin 2 a trisomy 3 (100%) was detected; in long term culture in 100% of cells had sSMC; twin 2 significantly shorter than twin, IUGR 1; sSMC also found in amnion cells; selective fetocide was done, however, after 3 weeks death delivery of both twins
03- Uu- 2	female/ prenatal	AF	de novo	47,XX,+mar[100%]	mar(3)(:p12.1→q11.2:)* aCGH (hg19): 85,527865–95,321299 Mb mat UPD 3	NIPT, aCGH UPD-test	normal child born; normla at 1.5 y	{64} case 23