TL

ChromosOmics - Database

- CHROMOSOME 6 -
- unclear if maternal or paternal UPD -

UPD MATERNAL CHR . 6	UPD PATERNAL CHR . 6
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
06- OU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- 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
06- 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
06- OU-seg/ q27/ 1-1	female	adult	PBL	mos 46,XX[~50%]/ 46,XX,del(6)(q27)[~50%] --- 6q27-6qter	normal - child with deletion in 100% of cells with clinical signs and symptoms	{883}

mosaic cases

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

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

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- WU-N/ 1-1	n.a.	newborn	PBL	n.a.	see below	{619} case 4
06- WU-N/ 1-1	IUGR, shortened long bones, left club foot,wide toe space left side, micrognathia, mild edema of the posterior skull and neck, small stomach possible hypotelorism, lemon shaped head and achogenic area posterior to the heart. (iso UPD 6 - no gene identified)
01- WU-N/ 2-1	n.a.	postnatal	PBL	46,XN	neurodev. disorder	{1300} 1 case
01- WU-N/ 3-1	male	prenatal	AF	46,XY	IUGR; TOP	{1487}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
01- 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
06- 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
06- 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
06- WU-seg/ ?/ 1-1 to 1-2	n.a.	n.a.	n.a.	n.a. --- n.a. only sizes 36 and 46 Mb of iUPD	n.a.	{1170} 2 cases
06- WU-seg/ p25.3/ 1-1	female	11y	PBL	n.a. --- 6p25.3 to 6p24.1	dilated cardiomyopathy (gene DSP in 6p24.3)	{1448} case 3
06- WU-seg/ p22.1/ 1-1	n.a.	prenatal	fibroblasts	n.a. --- i(UPD) in 6p22.1 to 6p21.1 no gene identified	abortion	{1042} case C-1257
06- WU-seg/ p21.1/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 6p21.1 to 6p12.3 no gene identified	clinically abnormal	{947} case 20
06- WU-seg/ q14/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 6q14 to 6q15 no gene identified	clinically abnormal	{947} case 101
06- WU-seg/ q21/ 1-1	n.a.	postnatal	PBL	n.a. --- i(UPD) in 6q21 to 6q22.31 no gene identified	clinically abnormal	{947} case 87
06- WU-seg/ q26/ 1-1	female	40y	PBL	46,XX --- 6q26 to 6qter	spinocerebellar ataxia type 17 (gene TPB in 6q27)	{446}

mosaic cases

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

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
06- WU-imb/ 1-1 to 1-2	n.a.	prenatal	PBL	46,XN,+6 acc. to NIPT	TOP	{1389} cases 111 and 135

mosaic cases

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