TL

ChromosOmics - Database

- X-CHROMOSOME -
- paternal UPD -

- skewed X-chromosome inactivation might be considered as kind of UPD - see Ref {244; 839}

- in 25% of Turner syndrome patients remaining X-chromosome is of paternal origin {443} leading to more social adaptation {526}

UPD MATERNAL X-CHR .	UPD unclear if maternal or paternal X-CHR
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
0X- OpU-N/ 1-1	female	28y	PBL	46,XX pat transmission of both X	recurrent miscarriages (iso-UPD X)	{619} case 16
0X- OpU-2/ 1-2	female	prenatal and newborn	free placental DNA placenta PBL	46,XX	none as 7 d old baby (iso-UPD X)	{1077}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- 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
0X- 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
0X- OpU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- OpU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- OpU-imb/ mos/ 1-1	-	-	-	-	-	-

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WpU-N/ 1-1	male	n.a.	n.a.	46,XY pat transmission of X and Y	hemophilia A (gene F8 in Xq28)	{396}
0X- WpU-N/ 2-1	female	n.a.	n.a.	46,XX pat transmission of both X	mild MR, short stature, hypotonia - no gene identified	{411} 1 case
0X- WpU-N/ 3-1	male	19y	PBL	46,XY pat transmission of X and Y	ectodermal dysplasia, hypodontia (gene ED1 in Xq13.1)	{518}
0X- WpU-N/ 4-1 to 4-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
0X- WpU-N/ 5-1	female	prenatal	AF	46,XX	IUGR; preterm birth with resp. distress syndrome	{1542} case 33

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WpU-N/ mos/ 1-1	-	-	-	-	-	-

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- 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
0X- WpU-seg/ q13.1/ 1-1	n.a.	2y	PBL	n.a. --- Xq13.1 to Xqter; 70.22 Mb [hg19]	congenital abnormalities	{1363} case 14

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WpU-seg/ / mos/ 1-1	-	-	-	-	-	-

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WpU-imb/ 1-1 to 1-4	male	n.a.	n.a.	48,XXYY	n.a.	{250} 4 cases
0X- WpU-imb/ 1-5 to 1-8	male	n.a.	n.a.	48,XXYY	n.a.	{537-538} 4 cases
0X- WpU-imb/ 2-1	male	n.a.	n.a.	48,XXXY	n.a.	{538} 1 case

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WpU-imb/ mos/ 1-1 t	-	-	-	-	-	-