TL

ChromosOmics - Database

- CHROMOSOME 11 -
- paternal UPD -

UPD MATERNAL CHR . 11	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- OpU-N/ 1-1	male	prenatal	AF	n.a.	none at 6m (maybe too early to see BWS)	{1673}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- 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
11- 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
11- OpU-seg/ p15.4/ 1-1 to 1-2	female	32 to 35 y	PBL	n.a. --- pat UPD 11 in 11p15.4 (gene TH01)	normal females but infertile due to partial or complete hydatic mole	{1145}
11- OpU-seg/ p15.4/ 1-3	female	~32 y	PBL	n.a. --- pat UPD 11 in 11p15.4 (gene TH01)	normal female with gestational trophoblastic neoplasia but infertile due to partial or complete hydatic mole	{1145}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- OpU-seg/ / mos/ 1-3	-	-	-	-	-	-

pat UPD-cases without clinical findings + other imbalances

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

mosaic cases

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

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

review on BWS see {835}; in BWS due to UPD(11)pat developing hyperinsulinaemic hypoglycaemia
require near-total pancreatectomy - maybe sirolimus treatment may help as well {939}
Also enhanced cancer risk in BWS-patients in general and specifically in such with UPD(11)pat {1233}
Acc. to {1279} all BWS cases diseased due to UPD are mosaics.
For general review on BWS see also {1382 and 1383}.
Acc. to {1594} BWS patients with UPD(11)pat having narrower mouths while imprinting center loss lads to wider tongues and mouths.
{1600} state that BWS patient with UPD(11)pat have higher reoperation rates of macroglossia than others.
Review on Molecular and Clinical Features of Adrenocortical Tumors in Beckwith-Wiedemann Spectrum see {1638}.
BWS guideline for patient management see Ref 1698.
Acc. to Ref 1712 hint on enhanced breast cancer risk of BWS patients with UPD(11)pat or BWS due to other reasons.

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WpU-N/ 1-1 to 1-14	n.a.	postnatal	PBL	n.a.	Beckwith-Wiedemann-syndrome (BWS)	{129}
11- WpU-N/ 1-15 to 1-18	n.a.	postnatal	PBL	n.a.	BWS	{139} cases 49-52 {140}
11- WpU-N/ 1-19	n.a.	postnatal	PBL	n.a.	BWS	{285}
11- WpU-N/ 1-20	n.a.	postnatal	PBL	n.a.	BWS	{610} 1 case
11- WpU-N/ 1-21	male	postnatal	PBL	n.a.	BWS (and hepatoblastoma)	{616}
11- WpU-N/ 1-22 to 1-23	n.a.	postnatal	PBL	n.a.	BWS	{638}
11- WpU-N/ 1-24 to 1-119	n.a.	postnatal	PBL	n.a.	BWS	{640} 96 cases; in {679} 41 of those cases
11- WpU-N/ 1-120 to 1-131	n.a.	postnatal	PBL	n.a.	BWS	{654; 672} 11 cases
11- WpU-N/ 1-132 to 185	n.a.	postnatal	PBL	n.a.	BWS	{672; 674} 54 cases
11- WpU-N/ 1-186 to 1-188	n.a.	postnatal	PBL	n.a.	BWS	{766} cases 2 to 4
11- WpU-N/ 1-189 to 1-269	n.a.	postnatal	PBL	n.a. unclear if segmental!!	BWS	{780} 81 cases
11- WpU-N/ 1-270	n.a.	postnatal	PBL	n.a.	BWS	{804} 1 case
11- WpU-N/ 1-271	n.a.	postnatal	PBL	n.a.	BWS	{808}
11- WpU-N/ 1-272 to 1-406	n.a.	postnatal	PBL	n.a.	BWS	{835} 135 cases
11- WpU-N/ 1-407	n.a.	postnatal	PBL	n.a.	BWS	{843} 1 case
11- WpU-N/ 1-408 to 1-430	n.a.	postnatal	PBL	n.a.	BWS	{654; 672; 674; 871;943} 22 cases
11- WpU-N/ 1-431 to 1-442	n.a.	postnatal	PBL	n.a.	BWS	{881} 12 cases
11- WpU-N/ 1-443	n.a.	postnatal	PBL	n.a.	BWS	{889} 1 case
11- WpU-N/ 1-444 to 1-452	n.a.	postnatal	PBL	n.a.	BWS	{969} 9 cases
11- WpU-N/ 1-453 to 1-454	n.a.	postnatal	PBL	n.a.	BWS	{985} 2 cases
11- WpU-N/ 1-455 to 1-456	n.a.	prenatal	AF	n.a.	BWS	{1098} 2 cases
11- WpU-N/ 1-457	n.a.	newborn	PBL	n.a.	BWS	{1123}
11- WpU-N/ 1-458	n.a.	child	PBL	n.a.	BWS	{1205} 1 case
11- WpU-N/ 1-459	n.a.	child	PBL	n.a.	BWS	{1250} 1 case
11- WpU-N/ 1-460 to 1-497	n.a.	postnatal	PBL	n.a.	BWS	{1270; 1271} overall 38 cases
11- WpU-N/ 1-498 to 1-505	n.a.	postnatal	PBL	n.a.	BWS	{1292} 8 cases
11- WpU-N/ 1-506 to 1-507	n.a.	postnatal	PBL	n.a.	BWS	{1353} cases 1 to 2
11- WpU-N/ 1-508 to 1-517	n.a.	postnatal	PBL	n.a.	BWS	{1355} 10 cases
11- WpU-N/ 1-518 to 1-529	n.a.	postnatal	PBL	n.a.	BWS	{1360} 12 cases
11- WpU-N/ 1-530	female	postnatal	PBL	n.a.	BWS	{1388}, case 1
11- WpU-N/ 1-531 to 1-541	n.a.	postnatal	PBL	n.a.	BWS	{1413} 11 cases
11- WpU-N/ 1-542	female	4m	PBL	n.a.	BWS	{1430}
11- WpU-N/ 1-543	male	1y	PBL	n.a.	BWS and Wilms tumor	{1467}
11- WpU-N/ 1-544	n.a.	postnatal	PBL	n.a.	BWS and Wilms tumor	{1475}
11- WpU-N/ 1-545 to 1-558	10 male 3 female	postnatal	PBL	n.a.	BWS	{1527} 13 cases
11- WpU-N/ 1-559	female	prenatal	AF	46,XY	BWS; TOP	{1528} case 25
11- WpU-N/ 1-560 to 1-562	n.a.	postnatal	PBL	n.a.	BWS	{1580} 3 cases
11- WpU-N/ 1-563 to 1-577	n.a.	postnatal	PBL	n.a.	BWS	{1594} 15 cases
11- WpU-N/ 1-578 to 1-581	n.a.	postnatal	PBL	n.a.	BWS	{1600} 4 cases
11- WpU-N/ 1-582 to 1-617	n.a.	postnatal	PBL	n.a.	BWS	{1605} 36 cases
11- WpU-N/ 1-618	female	postnatal	PBL	n.a.	BWS	{1638}
11- WpU-N/ 1-619	n.a.	postnatal	PBL	n.a.	BWS	{1671} 1 case
11- WpU-N/ 1-620 to 1-660	n.a.	postnatal	PBL	n.a.	BWS	{1711} 41 case
11- WpU-N/ 1-662 to 664	female	postnatal	PBL	n.a.	BWS	{1712} case 4-6
11- WpU-N/ 2-1	male	postnatal	PBL	n.a.	focal BWS and ß-thalassemia (gene HBB in 11p15.4)	{84}
11- WpU-N/ 3-1 to 3-4	n.a.	postnatal	PBL	46,XN UPD only proven for band 11p15	focal form of neonatal hyperinsulinism (gene ABCC8 in 11p15.1)	{146} 4 cases
11- WpU-N/ 4-1 to 5-2	n.a.	postnatal	PBL, tongue	n.a. UPD11 only in tongue not in blood detected	BWS	{794} 2 cases
11- WpU-N/ 5-1 to 5-4	n.a.	postnatal	PBL	n.a.	BWS	{947} cases 17, 128, 220, 227b}
11- WpU-N/ 6-1 to 6-4	n.a.	postnatal, children	PBL	n.a.	no BWS but Cushing syndrome in one of 4 and all with adrenocortical tumors	{1353} cases 3-6
11- WpU-N/ 7-1	n.a.	postnatal	PBL	n.a.	BWS and inflammatory bowel disease (gene IL10RA in 11q23.3)	{1669} case 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WpU-N/ mos/ 1-1 to 1-2	n.a.	postnatal	PBL	n.a. UPD in mosaic - not specified	BWS	{1304} 2 cases
11- WpU-N/ mos/ 1-3	female	postnatal	PBL	46,XX acc to mol. genet. result mosaic of cells with and without pat UPD	BWS	{157} case 3
11- WpU-N/ mos/ 1-4	female	postnatal	PBL; different tissues	n.a. acc to mol. genet. result mosaic of cells with and without pat UPD	BWS	{224}
11- WpU-N/ mos/ 1-5 to 1-6	n.a.	postnatal	PBL	n.a. 10-20% only with UPD	BWS	{713} cases KvDMR and H19DMR
11- WpU-N/ mos/ 1-7	female	postnatal	PBL	n.a. 90% only with UPD	BWS	{935} case 21-006
11- WpU-N/ mos/ 1-8 to 1-13	n.a.	postnatal	PBL	n.a. mosaic of UPD	BWS	{955} cases 10-14; 25
11- WpU-N/ mos/ 1-14	female	5m	PBL	n.a. mosaic of UPD 11 only 11p15.5 region tested	BWS	{1117}
11- WpU-N/ mos/ 1-15	n.a.	newborn	PBL	n.a. mosaic of UPD 11 only 11p15.5 region tested	BWS	{1150}
11- WpU-N/ mos/ 1-16	n.a.	newborn	PBL	n.a. mosaic of UPD 11 only 11p15.5 region tested	BWS	{1339} 1 case
11- WpU-N/ mos/ 1-17 to 1-28	n.a.	postnatal after IVF	PBL	n.a. mosaic of UPD 11 unclear which region tested	BWS	{1406} 12 cases
11- WpU-N/ mos/ 1-29 to 1-33	n.a.	postnatal	PBL	n.a. mosaic of UPD 11 unclear which region tested	BWS	{1440} 5 cases
11- WpU-N/ mos/ 1-34	female	2m	PBL	n.a. mosaic of UPD 11 unclear which region tested	BWS	{1491}
11- WpU-N/ mos/ 1-35 to 1-41	n.a.	postnatal	PBL	n.a. mosaic of UPD 11 unclear which region tested	BWS	{1687} 7 cases
11- WpU-N/ mos/ 1-42	n.a.	prenatal	AF	n.a. mosaic of UPD 11 unclear which region tested - evtl 11p15 80% mosaic	BWS	{1705} case 72
11- WpU-N/ mos/ 2-1 to 2-5	n.a.	postnatal	PBL	46,XN UPD only proven for band 11p15 and mosaic	focal form of neonatal hyperinsulinism (gene ABCC8 in 11p15.1)	{1386} cases 1-5
11- WpU-N/ mos/ 3-1 to 3-2	n.a.	newborn	PBL	46,XN UPD only proven for band 11p15 and mosaic	BWS and congenital hyperinsulinism and hemihypertrophy (gene KCNJ11 in 11p15.1)	{1386} cases 8 and 9
11- WpU-N/ mos/ 4-1	n.a.	postnatal	PBL	46,XN UPD only proven in mosaic	BWS and Witteveen-Kolk syndrome due to mutation in gene SIN3A in 15q24.2	{1709}

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- 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
11- 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
11- WpU-seg/ 1-1 to 10	n.a.	postnatal	PBL	n.a. --- pat UPD 11 in LIT tested	BWS	{579} 6 cases from 'validation group' and 4 from 'practice group'
11- WpU-seg/ 1-11 to 1-18	n.a.	postnatal	PBL	n.a. --- pat UPD 11 (at least in 11p15)	BWS	{798} 8 cases
11- WpU-seg/ 1-19	female	1m	PBL	n.a. --- pat UPD 11 (at least in 11p15)	BWS	{939}
11- WpU-seg/ pter/ 1-1 to 1-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.5	BWS	{139} cases 1-2 {140}
11- WpU- seg-pter/ 1-3 to 1-4	n.a.	postnatal	PBL	46,XN --- 11pter to 11p15.5	BWS	{609} cases 6-7
11- WpU-seg/ pter/ 1-5	female	16y	PBL and fibroa-denoma	n.a. --- 11pter to 11p15.5	BWS	{861}
11- WpU-seg/ pter/ 1-6 to 1-7	n.a.	postnatal	n.a.	n.a. --- 11pter to 11p15.5	BWS after ART	{1012} 2 cases
11- WpU-seg/ pter/ 1-8	n.a.	postnatal	PBL; hepato-blastoma	n.a. --- 11pter to 11p15.5	BWS	{1030}
11- WpU-seg/ pter/ 2-1 to 1-12	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.4	BWS	{139} cases 3-14 {140}
11- WpU-seg/ pter/ 3-1 to 3-5	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.1	BWS	{139} cases 15-19 {140}
11- WpU-seg/ pter/ 4-1 to 4-2	2 female	prenatal	AF	46,XX --- 11pter to 11p15	BWS; omphalocoele, TOP	{195} 2 cases
11- WpU-seg/ pter/ 5-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14.3	ß-thalassemia major evolution from ß-thalassemia minor (gene HBB in 11p15.4)	{498}
11- WpU-seg/ pter/ 6-1 to 6-8	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14	BWS	{139} cases 20-27 {140}
11- WpU-seg/ pter/ 6-9 to 6-12	n.a.	postnatal	PBL	46 --- 11pter to 11p14	BWS, Wilmstumor	{208} 4 cases {209} 2 cases
11- WpU-seg/ pter/ 6-13	male	postnatal	PBL	46,XY --- 11pter to 11p14	BWS; permanent neonatal diabetes, hemihypertrophy (gene ABCC8 in 15p15.1)	{325}
11- WpU-seg/ pter/ 6-14	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14	BWS	{348} family 5 {351; 349}
11- WpU-seg/ pter/ 6-15	n.a.	postnatal	PBL	46,XN --- 11pter to 11p14	BWS	{609} case 8
11- WpU-seg/ pter/ 6-16	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14	BWS	{619} case 37
11- WpU-seg/ pter/ 7-1	male	newborn	PBL	46,XY --- 11pter to 11p14~13	BWS	{106}
11- WpU-seg/ pter/ 8-1 to 8-8	n.a.	postnatal	PBL	n.a. --- 11pter to 11p13	BWS	{139} cases 28-35 {140}
11- WpU-seg/ pter/ 8-9 to 8-14	3 male, 3 female	postnatal	PBL	46,XX or 46,XY --- 11pter to 11p13	BWS	{157} cases 1-2 and 4-7
11- WpU-seg/ pter/ 8-15	n.a.	postnatal	PBL	46,XN --- 11pter to 11p13	BWS	{609} case 5
11- WpU-seg/ pter/ 9-1	n.a.	postnatal	PBL	46,XN --- 11pter to 11p12	BWS	{609} case 3
11- WpU-seg/ pter/ 10-1	n.a.	newborn	PBL	n.a. --- 11pter to 11p11	BWS, Wilmstumor	{397}
11- WpU-seg/ pter/ 11-1 to 11-13	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11	BWS	{139} cases 36-48 {140}
11- WpU-seg/ pter/ 12-1 to 12-4	n.a.	postnatal	PBL	46,XN --- 11pter to 11p11.2	BWS	{609} cases 1, 2, 4, 9
11- WpU-seg/ pter/ 2-1	male	5m	PBL	n.a. --- 11pter to 11p11.1	no BWS but Cushing syndrome	{1317}
11- WpU-seg/ p15/ 3-1 to 3-2	n.a.	postnatal	PBL	n.a. --- 11p15	ß-thalassemia major evolution from ß-thalassemia minor (gene HBB in 11p15.4)	{549; 716} two families
11- WpU-seg/ p15/ 4-1	n.a.	postnatal	PBL	n.a. --- 11p15-11p15	BWS	{766} case 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WpU-seg/ mos/ 1-1 to 1-10	n.a.	postnatal	PBL	n.a. --- pat UPD 11 in LIT tested in mosaic	BWS	{579} 10 cases from 'practice group'
11- WpU-seg/ mos/ 1-11 to 1-38	17 female 11 male	postnatal	PBL	n.a. --- seg. pat UPD 11 in mosaic	BWS	{935} 28 cases
11- WpU-seg/ mos/ 1-39 to 1-70	17 female 11 male	postnatal	PBL	n.a. --- seg. pat UPD 11 in mosaic	BWS	{1363} 32 cases
11- WpU-seg/ pter/ mos/ 1-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.5 mosaic 50%	BWS	{782} case 4
11- WpU-seg/ pter/ mos/ 1-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.5 mosaic 16%	BWS	{782} case 7
11- WpU-seg/ pter/ mos/ 2-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.4 mosaic 24%	BWS	{782} case 12
11- WpU-seg/ pter/ mos/ 2-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.4 mosaic 25%	BWS	{782} case 14
11- WpU-seg/ pter/ mos/ 2-3	n.a.	postnatal	PBL tongue	n.a. --- 11pter to 11p15.4 mosaic 47% and 27%	BWS	{782} case 16
11- WpU-seg/ pter/ mos/ 2-4	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.4 mosaic	BWS	{903} 1 case
11- WpU-seg/ pter/ mos/ 2-5 to 2-7	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.4 mosaic	BWS	{955} cases 15, 21, 22
11- WpU-seg/ pter/ mos/ 3-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.3 mosaic	BWS	{955} case 16
11- WpU-seg/ pter/ mos/ 3-2	female	prenatal	preimplantation and PBL	47,XX,+mar[96]/46,XX[4] --- 11pter to 11p15.3 mosaic	at 2y no clear signs of BWS	{1607} case 20
11- WpU-seg/ pter/ mos/ 4-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.2 in mosaic 39%	BWS	{782} case 8
11- WpU-seg/ pter/ mos/ 4-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.2 in mosaic ?%	BWS	{828; 1170} 1 case
11- WpU-seg/ pter/ mos/ 4-3 to 4-4	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.2 in mosaic 50%	BWS	{955} cases 1, 17
11- WpU-seg/ pter/ mos/ 5-1	female	postnatal	PBL	n.a. --- 11pter to 11p15.1 in mosaic	BWS (less expressed)	{221; 555}
11- WpU-seg/ pter/ mos/ 5-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.1 in mosaic	focal form of neonatal hyperinsulinism (gene ABCC8 in 11p15.1)	{726}
11- WpU-seg/ pter/ mos/ 5-3	n.a.	postnatal	PBL	n.a. --- 11pter to 11p15.1 in mosaic	focal form of hyperinsulinism restricted to pancreas (gene ABCC8 in 11p15.1)	{1236}
11- WpU-seg/ pter/ mos/ 6-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14.3 mosaic 96%	BWS	{782} case 11
11- WpU-seg/ pter/ mos/ 7-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14.2 mosaic 65%	BWS	{782} case 6
11- WpU-seg/ pter/ mos/ 8-1	n.a.	postnatal	PBL	46 --- 11pter to 11p14 somatic mosaicism	BWS, Wilmstumor	{208} 1 case
11- WpU-seg/ pter/ mos/ 8-2 to 8-10	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14 all cases also somatic mosaicism	BWS	{330} 9 cases
11- WpU-seg/ pter/ mos/ 8-11	n.a.	postnatal	PBL	n.a. --- 11pter to 11p14 mosaic 20-50%	BWS	{955} case 2
11- WpU-seg/ pter/ mos/ 9-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p13 mosaic 21%	BWS	{782} case 9
11- WpU-seg/ pter/ mos/ 10-1 to 10-5	n.a.	postnatal	PBL	n.a. --- 11pter to 11p12 mosaic cases	BWS	{955} cases 3-5; 18-19
11- WpU-seg/ pter/ mos/ 11-1 to 11-2	n.a.	newborn	PBL	n.a. --- 11pter to 11p11 in mosaic	BWS	{513} 2 cases
11- WpU-seg/ pter/ mos/ 12-1	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11.2 mosaic 12%	BWS	{782} case 5
11- WpU- seg-pter/ mos/ 12-2	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11.2 mosaic 18%	BWS	{782} case 10
11- WpU-seg/ pter/ mos/ 12-3	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11.2 mosaic 58%	BWS	{782} case 13
11- WpU-seg/ pter/ mos/ 12-4	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11.2 mosaic 85%	BWS	{782} case 15
11- WpU-seg/ pter/ mos/ 12-5	male	newborn	PBL	n.a. --- 11pter to 11p11.2 mosaic 10-15%	BWS	{818} case 2
11- WpU-seg/ pter/ mos/ 13-1 to 13-5	n.a.	postnatal	PBL	n.a. --- 11pter to 11p11.1~11.2 mosaic	BWS	{955} cases 6-9, 24
11- WpU-seg-/ pter/ mos/ 14-1	male	newborn	PBL	n.a. --- 11pter to 11p11.1 mosaic 7-8%	BWS	{818} case 1
11- WpU-seg/ p15.5/ mos/ 1-1	n.a.	newborn	PBL	n.a. --- 11p15.5 to 11p14~13 in mosaic	BWS	{507}
11- WpU-seg/ p14.2/ mos/ 1-1	male	14y	PBL	n.a. --- 11p14.2-11p13 in mosaic	Sickle cell anemia (gene HBB in 11p15.4)	{563}

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
11- WpU-imb/ 1-1	male	prenatal	AF, placenta	AF: 47,XY,+11/46,XY placenta: 47,XY,+11	IUGR, TOP	{374}
11- WpU-imb/ 1-2	n.a.	prenatal	PBL	46,XN,+11 acc. to NIPT	TOP	{1389} case 121
11- WpU-imb/ 2-1	male	newborn	PBL	46,XY,der(11)(pter→q13.4:: q13.4→q14.3: :q14.3→q13.4: :q13.4→qter) UPD(11)seg 11q14.3 to 11qter	DD, growth retardation; DYS	{900}
11- WpU-imb/ 3-1	n.a.	prenatal	AF	46,XN,+3,+7,+8	hydatiform mole	{958}
11- WpU-imb/ 4-1	male	newborn	PBL	46,XY,trp(11)(q13.4q14.3) UPD only in triplicated region	dwarphism, DD, DYS	{1301}

mosaic cases

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