TL

ChromosOmics - Database

- all CHROMOSOMES -
- maternal UPD -

- ovarial teratoma can be/ is induced by complete maternal UPD {473; 474};

as tumor is not in the focus of this site corresponding reports are not collected

UPD unclear if maternal or paternal all CHRs.	UPD 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

mat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- 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
all- WmU/ 1-1 to 1-4	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
all- WmU/ 1-5	n.a.	postnatal	PBL	n.a - called parthenogenic	Silver Russel syndrome like	{1266} 1 case
all- WmU/ 2-1	male (phenotype!)	postnatal	PBL	46,XX 46,XX cells have maternal UPD	Silver Russel syndrome	{761}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WmU/ mos/ 1-1	male	prenatal	AF	46,XY UPD 25%	Moderate oligohydramnios	{1539} case 1
all- WmU/ mos/ 2-1	female	prenatal	AF	46,XX UPD 25%	IUGR, clubfoot	{1539} case 3
all- WmU/ mos/ 3-1	male	prenatal	AF	46,XY UPD 20%	Abnornmal axis, possible structural defect, hydronephrosis, asymmetric IUGR, clenched hands, absent gallbladder, mircognathia; TOP	{1539} case 11

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

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

segmental mat UPD-cases with or unclear clinical correlation

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

mosaic cases

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

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

Additional possible cases with all(UPD)mat 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- WmU-imb/ 1-1	male (phenotype!)	postnatal	PBL	46,XX/47,XXY 46,XX cells have maternal UPD	Silver Russel syndrome	{216} case P11
all- WmU-imb/ 2-1	female	prenatal	AF	48,XXX,+10[20]/ 47,XXX[18] still +10 was a cultural artifact! one cellline wit and one without UPD	IUGR; DD; DYS; TOP	{1038}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
all- WmU-imb/ mos/ 1-1	female	2y	PBL	chi 45,X/46,XX (between 18% and 84% cells with UPD of all chr	growth failure	{564}