TL

ChromosOmics - Database

- X-CHROMOSOME -
- maternal UPD -

- in 75% of Turner syndrome patients remaining X-chromosome is of maternal origin {443} leading to less social adaptation {526}

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

- at least a certain percentage of Klinefelter syndrome patients might be considered as kind of mat UPD X: acc. to {1584} ~60% of these cases have a UPD(X)mat (heterodisomy in most case)- 35 cases are identified in this study.

UPD unclear if maternal or paternal 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 UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- OmU-imb/ 1-1	female	prenatal	Ch; PBL	Ch: 45,X/46,XX PBL: 46,XX	none	{1108}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- 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
0X- WmU-N/ 1-1	female	6y	PBL	46,XX	Duchenne muscular dystrophy (gene DMD in Xp21.1)	{297}
0X- WmU-N/ 1-2	female	45y	PBL	46,XX	Duchenne muscular dystrophy (gene DMD in Xp21.1)	{0} (case 398-10)
0X- WmU-N/ 2-1 to 2-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
0X- WmU-N/ 3-1	female	3y	PBL	46,XX	Fragile XY syndrome (gene FMR1 in Xq27.3)	{1210}

mosaic cases

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

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

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

segmental mat UPD-cases with or unclear clinical correlation

N.B.: partial duplications in X-chr. in male may lead to UPD {806}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WmU-seg/ q27.2/ 1-1	female	14m	PBL	n.a. --- Xq27.2 to Xqter	hemophilia B (gene F9 in Xq27.1)	{322}
0X- WmU-seg/ q25/ 1-1	n.a.	newborn	PBL	n.a. --- Xq25 to Xqter; 125.95 Mb [hg19]	fragile X syndrome (gene FMR1 in Xq27.3)	{619} case 38; {1363} case 13

mosaic cases

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

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
0X- WmU-imb/ 1-1	female	postnatal	PBL	45,X/46,XX	short stature, Turner syndrome features	{302}
0X- WmU-imb/ 2-1	female	postnatal	PBL	45,X[80%]/ 46,X,+del(X)(q13.2)[?%]/ 46,X,r(X)(p22.3q13.2)[?%] mat isoUPD X	short stature, Turner syndrome features	{471}
0X- WmU-imb/ 3-1	male	3y	PBL	47,XXY	complete androgen insensitivity	{489}
0X- WmU-imb/ 3-2	n.a.	prenatal	CH	CH: 47,XXY/46,XX in normal cell line mat UPD 16 and mat UPD X	IUGR, TOP	{Reference unclear}
0X- WmU-imb/ 3-3	male	5y	PBL	47,XXY	MR due to fra X (iso-UPD X) fragile X syndrome (gene FMR1 in Xq27.3)	{619} case 15
0X- WmU-imb/ 4-1	female	22y	PBL	47,XXY	Androgen insensitivity syndrome (gene AR in Xq12)	{1046}
0X- WmU-imb/ 5-1	male	n.a.	n.a.	48,XXXY	n.a.	{250} 1 case
0X- WmU-imb/ 6-1	female	n.a.	n.a.	48,XXXX	n.a.	{250} 1 case
0X- WmU-imb/ 7-1 to 7-4	male	n.a.	n.a.	49,XXXXY	n.a.	{250} 4 cases
0X- WmU-imb/ 7-4 to 7-14	male	n.a.	n.a.	49,XXXXY	n.a.	{537-538 and 540-542} 10 cases
0X- WmU-imb/ 8-1	female	postnatal	PBL	49,XXXXX	DD	{264}
0X- WmU-imb/ 8-2 to 8-3	female	postnatal	PBL	49,XXXXX	DD	{538 and 539}
0X- WmU-imb/ 9-1	female	postnatal	PBL	46,X,idic(X)(p11.2)[10%]/46,XX[90%] mat UPD X in normal cell line	DD	{625}
0X- WmU-imb/ 10-1	male	35y	PBL	46,XX[15]/45,X[3]/ 46,XY[12]	infertile male	{785}
0X- WmU-imb/ 10-2	unclear	child	PBL	mos 46,XX/45,X/ 46,XY	DMD (gene DMD in Xp21.1)	{906}
0X- WmU-imb/ 11-1	male	postnatal	PBL	47,XXY	Klinefelter and X-linked ichthyosis, and severe central nervous system regression due to del(X)(p22.31p22.31)	{1338}
0X- WmU-imb/ 12-1 to 12-35	male	postnatal	PBL	47,XXY	heterodisomy - no clinical signs besides Klinefelter phenotype; no behavioural change compared to such without UPD	{1584} 35 cases

mosaic cases

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