TL

ChromosOmics - Database

- all CHROMOSOMES -
- paternal UPD -

- hydatidiform mole can be / is induced by complete paternal UPD {473; 474; 833; 1342; 1371}
examples see below
Acc. to {1191} only ~3.5% of hydatiform mole are due to UPD
UPD MATERNAL all CHRs.	UPD unclear if maternal or paternal all CHRs.
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
See reference 1298 for review on whole genome UPDs

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mosaic cases

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

mosaic cases

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

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

Acc. to {1171} 72/26101 consecutive miscarriages = 0.3% are due to UPD(all)pat!

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WpU-N/ 1-1	n.a.	postnatal	PBL	46,XX	Beckwith Wiedemann and Wilms tumor	{759}
all- WpU-N/ 1-2	female	~1y	PBL	46,XX	Beckwith Wiedemann and hepatic mesenchymal hamartoma	{760}
all- WpU-N/ 1-3	female	newborn	PBL	n.a.	multiple malformations typical for Beckwith Wiedemann	{786}
all- WpU-N/ 1-4	female	newborn	PBL	46,XX	multiple malformations typical for Beckwith Wiedemann	{826}
all- WpU-N/ 1-5	female	newborn	PBL	46,XX	BWS	{894}
all- WpU-N/ 1-6 to 1-12	female	postnatal	PBL	46,XX	BWS	{935} 7 cases
all- WpU-N/ 1-13	male	postnatal	PBL	46,XY/?46,XX 46,XY cells have paternal isodisomy	BWS	{935} case 21-027
all- WpU-N/ 1-14	n.a.	postnatal	PBL	n.a.	BWS	{1035}
all- WpU-N/ 1-15 to 1-17	male	postnatal	PBL	46,XX/46,XY UPD in XX cell line	BWS	{1088}
all- WpU-N/ 1-18	female	19y	PBL	46,XX	BWS and tumore	{1136}
all- WpU-N/ 1-19	female	postnatal	PBL	46,XX	BWS	{1137}
all- WpU-N/ 1-20	female	postnatal	PBL	46,XX	BWS	{1138}
all- WpU-N/ 1-21	male	~4m	PBL	46,XY[27]/46,XX[5] UPD in XX cell line	BWS	{1148, 1270}
all- WpU-N/ 1-22	female	~2y	PBL	46,XX	BWS mainly, but also other symptoms	{1165}
all- WpU-N/ 1-23 to 1-24	n.a.	postnatal	PBL	n.a.	n.a.	{1173} 2 cases; {1340} cases P15, P16
all- WpU-N/ 1-25 to 1-27	n.a.	postnatal	PBL	n.a.	BWS	{1270, 1271} 3 cases
all- WpU-N/ 1-28	female	postnatal	PBL	46,XX	BWS	{1402}
all- WpU-N/ 1-29	female	prenatal	AF	46,XY/46,XX UPD in XX cell line	BWS	{1449}
all- WpU-N/ 1-30	female	prenatal	AF	46,XX	BWS	{1463}
all- WpU-N/ 1-31 to 1-33	n.a.	postnatal	PBL	n.a.	BWS	{1594} 3 cases
all- WpU-N/ 2-1	female	prenatal	AF, placenta	46,XX in child 46,XX in placenta, cells have paternal isodisomy	Complete hydatidiform mole and normal live birth	{467}
all- WpU-N/ 2-2	female	prenatal	AF, placenta	46,XX in child 46,XX in placenta,cells have paternal isodisomy	Complete hydatidiform mole and TOP	{596}
all- WpU-N/ 2-3	female	prenatal	AF, fibroblasts	46,XX in child 46,XX in placenta,cells have paternal isodisomy	Complete hydatidiform mole and stillbirth	{701}
all- WpU-N/ 2-4	male	prenatal	AF, placenta	46,XY in child 46,XY/46,XX in placenta, 46,XX cells have paternal isodisomy	Complete hydatidiform mole and normal live birth	{468}
all- WpU-N/ 2-5 to 2-12	n.a.	prenatal	fetus	n.a.	Complete hydatidiformand aborted	{967} 8 cases
all- WpU-N/ 2-13	n.a.	prenatal	fetus	n.a.	Complete hydatidiformand in twon pregnancy	{1234}
all- WpU-N/ 3-1	n.a.	prenatal/ abortion	AF, tissue	46,XX/46,XY 46,XY cells have paternal isodisomy	spontaneous abortion	{455}
all- WpU-N/ 3-2	n.a.	postnatal	PBL	46,XY/46,XX 46,XY cells have paternal isodisomy	n.a.	{435}
all- WpU-N/ 3-3	female	postnatal	PBL	46,XX/46,XY 46,XX cells have paternal isodisomy	n.a.	{384}
all- WpU-N/ 3-4 to3-6	n.a.	prenatal	fibroblasts	n.a. paternal UPD	abortion	{865}
all- WpU-N/ 4-1	male	postnatal	PBL	46,XX/46,XY only in a few tissues (not in blood; in blood 46,XY) 46,XX cells have paternal isodisomy	some tissues are abnormal and also overgrowth of e.g. a toe.	{1084}
all- WpU-N/ 5-1 to 5-4	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
all- WpU-N/ 5-5	n.a.	n.a.	n.a.	n.a.	Complete hydatidiformand	{1170} 1 case
all- WpU-N/ 6-1	female	prenatal	placenta/ AF	46,XX in fetus/ placenta 46,XX/46,XY 46,XY is UPD(all)pat	normal child born	{1043} case 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WpU-N/ mos/ 1-1 to 1-2	female	postnatal	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome	{383; 974 - refer. case 2}
all- WpU-N/ mos/ 1-3	female	postnatal	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; IQ at lower average range; resembling to Beckwith Wiedemann syndrome	{454}
all- WpU-N/ mos/ 1-4	female	4y	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann and upd(14)pat syndrome	{603}
all- WpU-N/ mos/ 1-5	female	adult	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann	{604}
all- WpU-N/ mos/ 1-6	female	19y	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann	{673}
all- WpU-N/ mos/ 1-7	female	prenatal	AF	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann	{681}
all- WpU-N/ mos/ 1-8	female	postnatal	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann	{720}
all- WpU-N/ mos/ 1-9 to 1-12	female	postnatal	PBL	46,XX molecular studies show evidence for mosaic state of uniparental and biparental inheritance but no triploidy	multiple 'minor' malformations growth retardation; Beckwith Wiedemann - enhanced tumor risk detected for such cases	{751}
all- WpU-N/ mos/ 1-13	female	16y	PBL	n.a. UPD in skin 12%; in blodd 0%; in 4 tumors between 20 and 94%	BWS and recurent virilizing adrenocortical tumors	{856}
all- WpU-N/ mos/ 1-14	male	prenatal	AF	46,XY UPD in 50%	placental mesenchymal dysplasia; BWS	{1539} cases
all- WpU-N/ mos/ 2-1	female	postnatal	PBL	46,XX mosaic status of UPD and not UPD in blood and salvia but normal biparental in disomy in skin and biliary duct	deafness, no malignancies	{1071}
all- WpU-N/ mos/ 3-1 to 3-2	female	prenatal	AF, placenta, PBL	46,XX 46,XX cells in placenta have in parts paternal isodisomy	placental mesenchymal dysplasia	{469} cases 1 and 2
all- WpU-N/ mos/ 3-3 to 3-4	female	prenatal	AF, placenta, PBL	46,XX 46 cells in placenta have in parts paternal isodisomy	placental mesenchymal dysplasia	{470} cases 1 and 2
all- WpU-N/ mos/ 3-5 to 3-7	male	prenatal	AF	46,XY UPD in 80 and 50%	placental mesenchymal dysplasia	{1539} cases 6-7; 9
all- WpU-N/ mos/ 3-8 to 3-9	female	prenatal	CVS	46,XX UPD in 25% or 50%	placental mesenchymal dysplasia, normal at birth	{1539} case 13A, 16B
all- WpU-N/ mos/ 3-10	male	prenatal	CVS	46,XY UPD in 0%	placental mesenchymal dysplasia; premaure birth due to IUGR	{1539} case 14A
all- WpU-N/ mos/ 4-1	female	prenatal	AF, placenta, PBL	46,XX 46,XX cells in placenta have in parts paternal isodisomy	Complete hydatidiform mole	{500} 1 case
all- WpU-N/ mos/ 5-1	female	prenatal	AF	46,XX UPD in 50%	Omphalocele, kidney abnormality, neonatal death	{1539} case 2
all- WpU-N/ mos/ 5-2 to 5-6	female 2x male 1x	prenatal	POC	46,XX or 46,XY UPD in 50% (4x) or 30% (1x)	Hydatidiform mole and or pregnancy loss	{1539} cases 17-19, 21, 24
all- WpU-N/ mos/ 5-7	male	prenatal	CH	46,XY mos not specified	Hydatidiform mole	{1551} case 1
all- WpU-N/ mos/ 6-1	female	prenatal	AF	46,XX UPD in 40%	Echogenic bowel, abnormal placenta, stillbirth	{1539} case 4

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

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

mosaic cases

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

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

Additional possible cases with all(UPD)pat plus triploidy but without molecular genetic proof may be found here {1050}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WpU-imb/ 1-1	female	prenatal	AF	47,XX,+13	Complete hydatidiform mole, TOP	{560}
all- WpU-imb/ 2-1	male	prenatal	AF	69,XXY/46,XY 46,XY cells have paternal isodisomy	boy with BWS born	{610} case 1
all- WpU-imb/ 3-1	female	prenatal	AF	69,XXX/46,XX 46,XX cells have paternal isodisomy	spontaneous intrauterine death	{610} case 2
all- WpU-imb/ 3-2	female	prenatal	AF	69,XXX/46,XX 46,XX cells have paternal isodisomy	Complete hydatidiform mole, TOP	{1043} case 3
all- WpU-imb/ 4-1	female	6m	PBL	47,XX,+21/46,XX cells 46,XX cells have paternal isodisomy	Down syndrome, BWS, Wilmstumor	{897 = 920}
all- WpU-imb/ 5-1	female	prenatal	AF	47,XX,+9/46,XX cells with 47 chr. have UPD(all)pat	DD; DYS, ?BWS; TOP	{1043} case 2

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WpU-imb/ mos/ 1-1	female	prenatal	AF	45,X[13%]/ 46,XX[87%] UPD in 20%	TOP	{1515} case 3