TL

ChromosOmics - Database

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

UPD MATERNAL X-CHR.	UPD 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

mat or pat UPD-cases without clinical findings + normal karyotype

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- OU-N/ 1-1	female	prenatal (NIPT)	blood serum of mother	46,XX	n.a.	{983}

mosaic cases

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- WU-N/ 1-1	female	prenatal	AF	46,XX	DYS, TOP	{1542} case 11
0X- WU-N/ 1-2	female	prenatal	AF	46,XX	Bilateral nasal bone absence child born	{1578} case 40

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- 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
0X- 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
0X- WU-seg/ q22.1/ 1-1	female	postnatal	PBL	46,X,dup(X)(q21.31q22.1) ___ Xq22.1 to Xqter	Developmental and epileptic encephalopathy 9 gene PCDH19 is duplicated	{1593}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- WU-imb/ 1-1	female	n.a.	PBL	47,XX also del(15)(q11.2q11.2)	most likely DYS and MR size of UPD unclear no gene identified	{828} 1 case
0X- WU-imb/ 2-1	female	n.a.	cell line from PBL Coriell GM50178	46,XX,del(5)(p15.3)pat --- Xq22.3 to Xq22.3	Cri du chat syndrome	{907}
0X- WU-imb/ 3-1	female	prenatal	cffDNA	46,XX in placenta 67% 45,X	IUGR	{1225} 1 case

mosaic cases

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