TL

ChromosOmics - Database

- CHROMOSOME 6 -
- maternal UPD -

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- OmU-N/ 1-1	female	newborn	PBL	n.a.	none; paternity testing	{1078}

mosaic cases

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

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- OmU-imb/ 1-1	female	pre- and postnatal	chorion, AF	47,XX,+6 in chorion 46,XX in AF	normal acc. to parents at 3 months	{198}
06- OmU-imb/ 1-2 to 1-3	n.a.	prenatal	PBL	46,XN,+6 acc. to NIPT	normal children born	{1389} cases 110 and 113

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- WmU-N/ 1-1	female	prenatal	AF	n.a.	IUGR, catched up after birth; congenital adrenal hyperplasia (CYP21A2 gene in 6p21.33)	{338}
06- WmU-N/ 1-2	male	adult	PBL	n.a.	IUGR, catched up after birth, renal transplant patient; susceptibility to sarcoidosis type 1 (HLA-DRB1 gene in 6p21.32)	{360}
06- WmU-N/ 1-3	male	2y	PBL	46,XY	right unilateral cleft lip and palate, no growth retardation pre- or postnatal; normal developed at 2 y; hUPD(6)	{570}
06- WmU-N/ 1-4	female	prenatal	AF/ PBL	46,XX	IUGR, born as too small for age; ASD (atrial septal defect)	{0}
06- WmU-N/ 1-5	female	prenatal	AF	46,XX FISH: 2/100: -6	IUGR	{1031} case 1; {1270} 1 case
06- WmU-N/ 1-6	male	4y	PBL	46,XY	IUGR	{1031} case 2
06- WmU-N/ 1-7 to 1-8	female	postnatal	PBL	n.a.	IUGR; some DYS	{1495} cases 2 and 3
06- WmU-N/ 1-9 to 1-10	female and male	prenatal	AF	46,XX 46,XY	IUGR or abdominal cyst	{1521} 2 cases
06- WmU-N/ 1-11	male	newborn	PBL	46,XX 46,XY	IUGR some minor DYS	{1562} case 1
06- WmU-N/ 2-1	male	2y9m	PBL	n.a.	IUGR, 3M-syndrome-1 (CUL7 gene in 6p21.1)	{602}
06- WmU-N/ 3-1 and 3-2	n.a.	postnatal	PBL	n.a.	Leber congenital amaurosis 15 (TULP1 gene in 6p21.31)	{733}
06- WmU-N/ 3-3	n.a.	postnatal	PBL	n.a.	Leber congenital amaurosis 15 (TULP1 gene in 6p21.31)	{1107}
06- WmU-N/ 4-1	female	0.5 y	PBL	46,XX extremly skewed X-chr. inactivation	Wiskott-Aldrich syndrome (WASP = WASF3 gene in 6q21)	{855}
06- WmU-N/ 5-1	male	prenatal	AF	46,XY	IUGR; ambigous genitalia, DD, failur to thrive, hemangiomas, retrognathia, camptodactyly iUPD(6) - no gene identified	{953}
06- WmU-N/ 6-1	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
06- WmU-N/ 7-1	n.a.	postnatal	PBL	n.a.	Maple syrup urine disease (gene BCKDHB in 6q14.1)	{1007} patient B
06- WmU-N/ 8-1	female	5m	PBL	n.a.	complete IRF4 deficiency (gene IRF4 in 6p25.3)	{1063}
06- WmU-N/ 9-1	n.a.	postnatal	PBL	n.a.	Silver-Russel like phenotype	{1066} 1 case
06- WmU-N/ 9-2	n.a.	postnatal	PBL	n.a.	Silver-Russel like phenotype	{1071} 1 case
06- WmU-N/ 10-1 to 10-2	n.a.	postnatal	PBL	n.a.	no Silver-Russel like phenotype	{1066} 2 cases
06- WmU-N/ 11-1	n.a.	postnatal	PBL	n.a.	Pseudoxanthoma elasticum (PXE) (gene ENPP1 in 6q23.2)SCUBE3	{1424} case 11
06- WmU-N/ 12-1	female	postnatal	PBL	n.a.	IUGR (gene SCUBE3 in 6p21.3) no relevance for phenotype reported	{1562} case 2
06- WmU-N/ 13-1	male	~7y	PBL	n.a.	IFN-γR1 deficiency (gene IFNGR1 in 6q23.3)	{1564}
06- WmU-N/ 14-1	n.a.	prenatal	AF	n.a.	oligohydramnion (no gene identified)	{1585} case 33

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- 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
06- WmU-sSMC/ 1-1	06- CW-3	male/ 32y	PBL	48,XXY,+mar[30]/ 47,XXY[20]	mar(6) .ish(cep+)	all centromeric probes	Klinefelter syndrome; growth retardation at birth and at 8m of age	{288 }

segmental mat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- WmU-seg/ pter/ 1-1	male	newborn	PBL	46,XY --- 6pter-6p21.1; and 6q13-q22.31	Molybdenum cofactor (MoCo) deficiency of complementation group A (gene MOCS1 in 6p21.2)	{582}
06- WmU-seg/ pter/ 2-1	female	6y	PBL	n.a. --- 6pter-6p2?4	congenital sever factor 13 deficiency (gene F13A in 6p25.1)	{1168}
06- WmU-seg/ q16.1/ 1-1	female	prenatal	AF	46,XX --- 6q16.1-6qter	IUGR, child born, global DD, growth delay was catched up at age of 2 y; iUPD(6) but no gene identifed	{742}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- WmU-imb/ 1-1	male	postnatal miscarriage	skin, AF	47,XY,+6/46,XY	intrauterine death in week 23	{138}
06- WmU-imb/ 1-2	female	prenatal	CH; AF	CH: 47,XX,+6[12]/46,XX[19] AF: 46,XX	IUGR	{964} case 1
06- WmU-imb/ 1-3	female	prenatal	CH; AF	CH: 47,XX,+6[14]/46,XX[16] AF: 46,XX	IUGR	{964} case 2
06- WmU-imb/ 1-4	n.a.	prenatal	mat PBL	47,XN,+6 acc. to NIPT	TOP	{1389} case 112
06- WmU-imb/ 1-5 to 1-6	n.a.	prenatal	AF	47,XN,+6/ 46,XN	TOP	{1520} cases 3 and 4
06- WmU-imb/ 2-1	female	6m	PBL	598 kb duplication in 11p15.5	SRS like phenotype due to 11p dup	{1052} case M11221
06- WmU-imb/ 3-1 to 3-3	n.a.	postnatal	PBL	n.a.	SRS like phenotype	{1605} 3 cases

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- WmU-imb/ 1-1	n.a.	postnatal	PBL	n.a. --- duplication and triplication in 6q24.1 and UPD	n.a.	{908} case BAB3922