TL

ChromosOmics - Database

- CHROMOSOME 3 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 3	UPD PATERNAL CHR . 3
UPD-cases without clinical findings + normal karyotype	UPD-cases with or unclear clinical correlation + normal karyotype
UPD-cases without clinical findings + balanced karyotype	UPD-cases with or unclear clinical correlation + balanced karyotype
UPD-cases without clinical findings + sSMC	UPD-cases with or unclear clinical correlation + sSMC
segmental UPD-cases without clinical findings	segmental UPD-cases with or unclear clinical correlation
UPD-cases without clinical findings + other imbalances	UPD-cases with or unclear clinical correlation + other imbalances
References

mat or pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-N/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-bal/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases without clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at diagnosis	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
03- OU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat or pat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-seg/ pter/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 3pter to 3p21.33 (in 18% of PBL)	normal adult with bladder cancer	{545} case 155

mat or pat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- OU-imb/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical correlation + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-N/ 1-1	female	15y	PBL	n.a.	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (gene SLC25A38 in 3p22.1)	{841} case 493
03- WU-N/ 2-1 to 2-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
03- WU-N/ 3-1	female	prenatal	AF	46,XX	Hyperechogenic bowel	{1289} case 2
03- WU-N/ 4-1 to 8-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 5 cases
03- WU-N/ 9-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene ADCY5 in 3q21.1 )	{1300} 1 case
03- WU-N/ 10-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder (gene MASP1 in 3q27.3)	{1300} 1 case
03- WU-N/ 11-1	female	52y	PBL	n.a.	limb-girdle muscular dystrophy (gene POGLUT1 in 3q13.33) only seg. iUPD 3q13.31-qter detected/ tested	{1507}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-N/ mos/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical correlation+ balanced karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-bal/ 1-1	-	-	-	-	-	-

mat or pat UPD-cases with or unclear clinical findings + sSMC

case no.	case no. in sSMC database	gender/ age at diagnosis	studied material	GTG-banding result	final FISH result of the sSMC	FISH methods	clinical symptoms	reference
03- WU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat or pat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-seg/ p21.31/ 2-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 3p21.31 to 3p21.1 no gene identified	clinically abnormal	{947} case 84

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-seg/ pter/ mos/ 1-1	n.a.	prenatal	AF	n.a. --- 3pter to 3p24.3 23.46 Mb [hg19] 30% mos	different sonograph. abnomalies	{1363} case 19

mat or pat UPD-cases with or unclear clinical correlation + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-imb/ 1-1	n.a.	5y	PBL	aCGH x3: 3p25.1-3p24.1 iUPD 3pter-3p25.1	DD	{1363} case 42
03- WU-imb/ 2-1	male	n.a.	cell line from PBL Coriell GM11419	49,XYYYY --- 3p21.31 to 3p21.1	MR and multiple symptoms	{907} 1 case
03- WU-imb/ 3-1	n.a.	prenatal	PBL	46,XN,+3 acc. to NIPT	TOP	{1389} case 134

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
03- WU-imb/ mos/ 1-1	-	-	-	-	-	-