TL

ChromosOmics - Database

- CHROMOSOME 9 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 9	UPD 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

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

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- 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
09- 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
09- OU-seg/ pter/ 2-1	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 9pter to 9p24.1	normal adult with gastrointestinal cancer	{1083} case in Tab 3

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- OU-seg/ pter/ mos/ 1-2	n.a.	adult	PBL	n.a.; acc. to array no imbalance in PBL --- 9pter to 9p13.1 (in 83% of PBL)	normal adult with bladder cancer	{545} case 586

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- OU-imb/ 1-1	n.a.	adult	PBL	n.a. acc. to array partial trisomy 9 and 22 in 72-74% of PBL --- 9pter to 9p13.1	normal adult with bladder cancer	{545} case 1185

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- WU-N/ 1-1	n.a.	prenatal	trophectoderm biopsies	n.a.	n.a.	{1131}
01- WU-N/ 2-1 to 3-1	n.a.	postnatal	PBL	46,XN	different neurodev. disorders	{1300} 2 cases

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- 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
09- 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
09- 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
09- WU-seg/ p13.3/ 1-1	n.a.	n.a.	PBL	n.a. --- 9p13.3 (unclear if mat or pat origin)	classical galactosaemia (gene GALT in 9p13.3)	{365}
09- WU-seg/ p13.3/ 1-1	male	1.3y	PBL	n.a. --- 1p31.1 to 1p22.1 and 9q22.2 to 9q31.2	medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM gene in 1p31.1) and 17β-HSD3 deficiency (HSD17B3 gene in 9q22.32)	{1448} case 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
09- WU-seg/ q13/ mos/ 1-1	n.a.	4y	PBL	n.a. --- 9q13 to 9qter 67.03 Mb [hg19] 40% mos	autism	{1363} case 21
09- WU-seg/ q13/ mos/ 1-2	n.a.	prenatal	fibroblasts	n.a. --- 9q13 to 9qter 67.03 Mb [hg19] 40% mos	loss at 22 wog	{1363} case 22

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
09- WU-imb/ 1-1	female	postnatal	PBL	47,XX,+9/46,XX	n.a.; blood group system mixed	{778}
09- WU-imb/ 1-2	n.a.	n.a.	PBL	47,XN,+9[11%]/ 46,XN[89%]	most likely DYS and MR size of UPD unclear no gene identified	{828; 1170} 1 case
09- WU-imb/ 1-3 to 1-4	n.a.	prenatal	PBL	46,XN,+9 acc. to NIPT	TOP	{1389} cases 118 and 139
09- WU-imb/ 1-5	n.a.	prenatal	PBL	46,XN,+9 acc. to NIPT	TOP	{1480} 1 case
09- WU-imb/ 2-1	female	5y	PBL	n.a. acc. to aCGH triplication of 9q21.11-q21.33	citrullinemia (gene ASS1 in 9q34.11)	{828} 1 case
09- WU-imb/ 3-1	male	newborn	PBL	n.a. acc. to aCGH copy number gains at Xq28 and 10q26.11- q26.12, copy number loss at 16q23.1	3-methylglutaconic aciduria, type I (gene AUH in 9q22.31)	{828} 1 case
09- WU-imb/ 4-1	n.a.	6y	PBL	aCGH x3: 9p22.3-9p21.3 iUPD: 9pter-9p22.3	DD	{1363} case 49
09- WU-imb/ 5-1	n.a.	prenatal	AF	aCGH x3: 9p22.2p13.2	n.a.	{1496} case 2

mosaic cases

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