TL

ChromosOmics - Database

- CHROMOSOME 17 -
- maternal UPD -

UPD unclear if maternal or paternal 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 UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mat UPD-cases without clinical findings + balanced karyotype

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

mat 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- OmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases without clinical findings

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

mosaic cases

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

mat UPD-cases without clinical findings + other imbalances

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- OmU-imb/ 1-1	female	prenatal	AF, PBL	47,XX,+17[~1%]/ 46,XX[~99%]	normal girl at birth and at 2 years of age	{189} case 2

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- WmU-N/ 1-1	female	2.5 y	PBL	46,XX	nephrotic cystinosis (gene CTNS in 17p13.2)	{245}
17- WmU-N/ 2-1	n.a.	postnatal	PBL	n.a.	see below	{763} case 258308
17- WmU-N/ 2-1	Seizures, bruxism, global DD, delayed speech and language development, delayed gross motor development, renal magnesium wasting, hypomagnesemia; gene not identified
17- WmU-N/ 3-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
17- WmU-N/ 4-1	female	~4y	PBL	n.a.	N-acetylglutamate synthase deficiency (gene NAGS in 17q21.31)	{1118}
17- WmU-N/ 5-1	male	16m	PBL	n.a.	autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)	{1166} patient D
17- WmU-N/ 6-1	male	newborn	PBL	n.a.	congenital ichthyosis (gene ALOX12B in 17p13.1)	{1400}

mosaic cases

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

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

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

mat 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- WmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- WmU-seg/ q25/ 1-1	male	n.a.	PBL	46,XY --- 17q25 to 17qter	severe MR, macrostomia, thick upper lip, hypertelorism, epicanthus, aggressive behavior; no gene detected	{411} 1 case
17- WmU-seg/ q25.1/ 1-1	male	6w	PBL	n.a. --- 17q25.1 to 17qter	autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)	{1166} patient C
17- WmU-seg/ q25.3/ 1-1	male	3y	PBL	n.a. --- 17q25.3 to 17qter	autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)	{1166} patient B

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
17- WmU-seg/ q21.31/ mos/ 1-1	male	3m	PBL	n.a. --- 17q21.31 to 17qter (in mosaic)	autosomal recessive lysosomal disorder - Pombe disease (gene GAA in 17q25.3)	{1166} patient E

mat 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/ div/ 1-1	n.a	13y	PBL	46,XN,der(17)(pter→p13.2: :p13.3→qter) in aCGH dup: 1.97-5.75 Mb UPD(17)seg: 17pter→17p13.3 in aCGH: 0-1.97 Mb	n.a.	{858} case 131
17- WU-imb/ div/ 2-1	n.a.	2.5y	PBL	46,XN,der(17)(pter→q25.3: :q25.3→qter) in aCGH dup: 75.90-78.97 Mb UPD(17)seg: 17q25.3→17qter in aCGH: 78.97-81.20 Mb	DD	{858} case 132

mosaic cases

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