TL

ChromosOmics - Database

- CHROMOSOME 17 -
- paternal UPD -

UPD MATERNAL CHR . 17	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

pat UPD-cases without clinical findings + balanced karyotype

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

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- OpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases without clinical findings

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- OpU-seg/ p13/ 1-1	male	n.a.	PBL	n.a. --- 17p13.3-17p13.1 (isoUPD)	normal male	{702}

mosaic cases

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

pat UPD-cases without clinical findings + other imbalances

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

mosaic cases

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

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- WpU-N/ 1-1	n.a.	newborn	PBL	n.a.	junctional epidermolysis bulbosa; dies at 2 months; (gene ITGB4 in 17q25.1)	{567}
17- WpU-N/ 2-1	male	8y	PBL	n.a.	autosomal recessive limb-girdle muscular dystrophy R3 (gene SGCA in 17q21.33)	{1774}

mosaic cases

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

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- WpU-bal/ 1-1	-	-	-	-	-	-

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- WpU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental pat UPD-cases with or unclear clinical correlation

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- WpU-seg/ q21.31~qter/ mos/ 1-1	n.a.	postnatal	PBL	n.a. --- 17q21.31 to 17qter in 50% mosaic	Pompe disease (gene GAA in 17q25.3)	{1216} patient 6

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- WpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

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