TL

ChromosOmics - Database

- CHROMOSOME 9 -
- paternal UPD -

UPD MATERNAL CHR . 9	UPD unclear if maternal or paternal CHR . 9
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
09- OpU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- 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
09- OpU-sSMC/ 1-1	09-O- p12/ 5-2	male/ prental	PBL	48,XY,+mar,+r[4]/ 47,XY,+mar[25]/ 47,XY,+r[1]/ 46,XY[6]	min(9)(:p11.1→q1?2:)/ r(9)(p12→q1?2)	aCGH; cep9	AMA, normal sonography, normal child born	{996}

segmental pat UPD-cases without clinical findings

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- OpU-imb/ 1-1	male	prenatal	AF	47,XXY[19]/ 46,XY[81]	normal at age of 3.5y	{1149}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- WpU-N/ 1-1	female	20y	n.a.	n.a.	Amyotrophic lateral sclerosis 16, juvenile (gene SIGMAR1 in 9p13.3)	{841} case 450
09- WpU-N/ 2-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
09- WpU-N/ 3-1	female	~1y	PBL	n.a. besides UPD(9)pat also UPD(10)mat	Leigh syndrome (gene SURF1 in 9q34.2)	{1159} case 2
09- WpU-N/ 4-1	male	8m	PBL	n.a.	SRS due to UPD(7)mat; also there is a UPD(9)pat	{1476} patient 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- WpU-N/ mos/ 1-1	n.a.	prenatal	n.a.	n.a. mosaic pat UPD 9	twin pregnancy, abnormal; no further info available	{480}

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- 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
09- WpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- WpU-imb/ 1-1	n.a.	prenatal	n.a.	47,+9/46	n.a.	{479}
09- WpU-imb/ 1-2	female	prenatal and 2y	NIPT/PBL	47,XX,+9[17%]/ 46,XX[83%]	IUGR, VSD, MR, DYS, hypotonia	{890}
09- WpU-imb/ 1-3	n.a.	prenatal	PBL	46,XN,+9 acc. to NIPT	TOP	{1389} case 119
09- WpU-imb/ 2-1	n.a.	postnatal	PBL	n.a. --- duplication and triplication in 9q12-9q21.11 and UPD	n.a.	{908} case BAB4539

mosaic cases

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