TL

ChromosOmics - Database

- CHROMOSOME 11 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 11	UPD PATERNAL CHR . 11
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
11- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- 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
11- 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
11- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- OmU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- WmU-N/ 1-1	male	15y	PBL buccal mucosa	n.a.	ataxia ATM gene (11q22.3) --> leukemia	{1446}

mosaic cases

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- WmU-sSMC/ 1-1	-	-	-	-	-	-	-	-

segmental mat UPD-cases with or unclear clinical correlation

ase no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WmU-seg/ pter/ 1-1	male	postnatal	PBL	46,XY --- 11pter to 11p15.?1	SRS - also IUGR and UPD only tested by SNP-array	{1315} case 1
11- WmU-seg/ q11.1/ 1-1	n.a.	prenatal	PBL	n.a. --- 11q11.1 to 11qter	n.a.	{1130} case 4
11- WmU-seg/ q12.3/ 1-1	n.a.	12y	PBL	n.a. --- 11q12.3 to 11qter	encephalopathy	{619} case 36
11- WmU-seg/ q13/ 1-1	n.a.	12y	PBL	n.a. --- 11q13.1 to qter; 64.12 Mb [hg19]	encephalopathy	{1363} case 10

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WmU-seg/ q13.4/ mos/ 1-1	n.a.	postnatal	PBL	n.a. --- 11q13.4 to 11qter in mosaic	lines of Blaschko	{800} case 4

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WmU-imb/ 1-1	male	newborn	PBL	46,XY,der(15)t(11;15)(p15.5;p12)dmat	Silver Russel Syndrome	{647}
11- WmU-imb/ 2-1	n.a.	prenatal	PBL	46,XN,+11 acc. to NIPT	TOP	{1389} case 120
11- WmU-imb/ 3-1	male	postnatal	PBL	46,XY,del(11)(q23.3)/46,XY –- 11q23.3 to 11qter in normal cells	Jacobsen syndrome - due to deletion of responsible gene in 11q23	{425}
11- WmU-imb/ 4-1	female	25y	PBL	46,XX,der(19)t(11;19)(q13;p13.3)/46,XX --- 11q13 to 11qter in normal cells	MR	{404}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WmU-imb/ mos/ 1-1	male	55y	PBL	46,XY,der(11)t(2;11)(q35;q25)dpat [86]/46,XY[14] UPD in 90% 11q25 to qter (start at 133.317715)	DD, MR In sister same cytog. condition but UPD 11q13.2q25 (67.672729-133.303640) in 10% of cells	{1366}