TL

ChromosOmics - Database

- CHROMOSOME 17 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 17	UPD PATERNAL CHR . 17
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
17- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- 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
17- 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
17- 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
17- OU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- OU-seg/ pter/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 17pter to 17p13.2 (in 34% of PBL)	normal adult with bladder cancer	{545} case 815
17- OU-seg/ pter/ mos/ 2-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 13q12.1 to 13qter (in 28% of PBL) and 17pter to 17p11.2 (in 39% of PBL)	normal adult with bladder cancer	{545} case 962
17- OU-seg/ pter/ mos/ 2-2	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 17pter to 17p11.2 (in 36% of PBL)	normal adult with gastrointestinal cancer	{1083} case in Tab 3
17- OU-seg/ q21.2/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 17q21.2 to 17qter (in 28% of PBL)	normal adult with bladder cancer	{545} case 369
17- OU-seg/ q22/ mos/ 1-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 17q22 to 17qter (in 21% of PBL)	normal adult	{545} case 1007

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

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- 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
17- WU-N/ 1-1	female	prenatal	AF	46,XX	DYS, TOP	{1542} case 24
17- WU-N/ 2-1	male	newborn	PBL	46,XY	glycosylphosphatidylinositol deficiency (gene PGAP3 in 17q12)	{1558}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- 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
17- 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
17- 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
17- WU-seg/ q12/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 17q12 to 17q21.1 no gene identified	clinically abnormal	{947} case 76
17- WU-seg/ q21.32/ 2-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 17q21.32 to 17q23.2 no gene identified	clinically abnormal	{947} case 189
17- WU-seg/ q21.32/ 3-1	female	8y	PBL	n.a. --- 17q22 to 17q24.2	neurodevelopmental disorder (iso-UPD 17 - no gene identifed) but del(X)(q22.33q22.33)	{1162} case 47

mosaic cases

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

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
17- WU-imb/ 1-1	n.a.	13y	PBL	aCGH x3: 17p13.3-17p13.2 iUPD: 17pter-17p13.3	DD	{1363} case 50
17- WU-imb/ 2-1	n.a.	2.5y	PBL	aCGH x3: 17q25.3-17q25.3 iUPD: 17q25.3-17qter	DD	{1363} case 51
17- WU-imb/ 3-1	n.a.	prenatal	PBL	46,XN,+17 acc. to NIPT	TOP	{1389} case 127

mosaic cases

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