TL

ChromosOmics - Database

- CHROMOSOME 6 -
- paternal UPD -

UPD MATERNAL CHR . 6	UPD unclear if maternal or 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

pat UPD-cases without clinical findings + normal karyotype

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

mosaic cases

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

mosaic cases

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

mosaic cases

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

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

for review on TNDM see {1096}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- WpU-N/ 1-1	female	newborn	PBL	46,XX	transient neonatal diabetes mellitus = TNDM	{111}
06- WpU-N/ 1-2	female	newborn	PBL	n.a.	TNDM	{130} patient A {510} 1case
06- WpU-N/ 1-3	male	4m	PBL	46,XY	TNDM	{136} patient 1
06- WpU-N/ 1-4	female	4m	PBL; fibroblasts	46,XX	TNDM	{148, 153}
06- WpU-N/ 1-5 to 1-6	n.a.	newborn	PBL	n.a.	TNDM	{152, 256, 257} 2 cases
06- WpU-N/ 1-7	female	newborn	PBL	46,XX	TNDM	{155}
06- WpU-N/ 1-8	female	9y	PBL	46,XX	TNDM, normal at 6 y	{156}
06- WpU-N/ 1-9	female	newborn	PBL	46,XX	TNDM	{187}
06- WpU-N/ 1-10	n.a.	newborn	PBL	n.a.	TNDM	{188}
06- WpU-N/ 1-11	n.a.	newborn	PBL	n.a.	TNDM	{210} family 3, {211} family A
06- WpU-N/ 1-12	male	newborn	PBL	(n.a.)	TNDM	{266}
06- WpU-N/ 1-13	female	newborn	PBL	n.a.	TNDM	{267}
06- WpU-N/ 1-14	n.a.	newborn	PBL	n.a.	TNDM	{6} case B
06- WpU-N/ 1-15	n.a.	childhood	PBL	n.a.	TNDM; normal child; tested due to paternity testing	{377}
06- WpU-N/ 1-16	male	newborn	PBL	n.a.	TNDM	{380}
06- WpU-N/ 1-17	female	newborn	PBL	46,XX	TNDM	{465}
06- WpU-N/ 1-18	male	neweborn	PBL	n.a.	TNDM, relapse at 15 y	{496}
06- WpU-N/ 1-19	n.a.	newborn	PBL	n.a.	TNDM	{510} 1 case
06- WpU-N/ 1-20	n.a.	6m	PBL	n.a.	TNDM(mixed h-i-UPD 6)	{619} case 17
06- WpU-N/ 1-21	n.a.	3y 3 m	PBL	n.a.	TNDM add. features of unclear genesis (mixed h-i-UPD 6)	{619} case 18
06- WpU-N/ 1-22	male	newborn	PBL	n.a.	TNDM	{643} 1 case
06- WpU-N/ 1-23	n.a.	newborn	PBL	n.a.	TNDM	{652} case 16
06- WpU-N/ 1-24	n.a.	newborn	PBL	n.a.	TNDM	{655} 1 case
06- WpU-N/ 1-25 to 1-26	n.a.	newborn	PBL	n.a.	TNDM	{689} 2 cases
06-WpU-N/ 1-27 to 1-93	male and female	newborn	PBL	n.a.	TNDM	{728} 66 cases
06- WpU-N/ 1-94 to 1-96	n.a.	n.a.	PBL	n.a.	TNDM	{913} patients 1-3
06- WpU-N/ 1-97 to 1-98	n.a.	n.a.	PBL	n.a.	TNDM	{947} cases 75, 97
06- WpU-N/ 1-99	n.a.	newborn	PBL	n.a.	TNDM	{971}
06- WpU-N/ 1-100	female	newborn	PBL	n.a.	TNDM; at 6y still diabetic - i.e. PNDM	{1037}
06- WpU-N/ 1-101 to 1-102	male	prenatal	AF	46,XY	TNDM	{1099} 2 cases
06- WpU-N/ 1-103	n.a.	prenatal	PBL	n.a.	TNDM	{1190} 1 case
06- WpU-N/ 1-104	n.a.	prenatal	AF	n.a.	TNDM	{1404} 1 case
06- WpU-N/ 1-105	male	prenatal	AF	46,XY	TNDM; TOP	{1528} case 22
06- WpU-N/ 1-106	male	prenatal	AF	46,XY	TNDM; TOP	{1529} case 3
06- WpU-N/ 1-107	n.a.	postnatal	PBL	n.a.	TNDM not reported, but tested for paternity	{1547} case 1
06- WpU-N/ 1-108	n.a.	newborn	PBL	n.a.	TNDM	{1572}
06- WpU-N/ 1-109 to 1-111	n.a.	postnatal	PBL	n.a.	TNDM	{1603} cases 1, 2 and 16
06- WpU-N/ 1-112	n.a.	prenatal	AF	n.a.	TNDM	{1604} case 4 in App. 3
06- WpU-N/ 1-113 to 1-115	n.a.	postnatal	PBL	n.a.	TNDM	{1605} 3 cases
06- WpU-N/ 2-1	n.a.	newborn	PBL	n.a.	TNDM and cholestasis and paucity of interlobular bile ducts (no gene identified)	{233}
06- WpU-N/ 3-1	female	9y	PBL	46,XX	TNDM and systemic Lupus erythematosus (gene C4A in 6p21.33)	{378, 379}
06- WpU-N/ 4-1	male	newborn	PBL	46,XY	TNDM and complex syndrome including complete IFN-gamma receptor 1 deficiency (gene IFNGR1 in 6q23.3)	{464}
06- WpU-N/ 5-1	n.a.	newborn	PBL	n.a.	TNDM and 3M syndrome, low birth weight (gene CUL7 in 6p21.1)	{494} case 30
06- WpU-N/ 6-1	n.a.	newborn	PBL	n.a.	see below	{619} case 5
06- WpU-N/ 6-1	TNDM and oligohydraminos, hydrops fetalis with echocardiographic findings of the pulmonary stenosis and hypoplastic right heart. The newborn had whole body edema (iso-UPD 6 -no gene identified)
06- WpU-N/ 7-1 to 7-3	n.a.	n.a.	n.a.	n.a.	n.a.	{982}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- 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
06- WpU-sSMC/ 1-1	06- W-p21.2/ 1-1	female/ 1m	PBL cell line at ECACC DD1261	47,XX,+r[37]/ 46,XX[13]	r(6)(::p21.2→q10::)*	all centromeric probes; wcp 6; midi	see below	{6} case A, {7}, {8} case 5
06- WpU-sSMC/ 1-1	IUGR in week 35; Birth by cesarean section in week 38; Birth weight 1,8kg, Apgar 6/8/-; protuberant tongue; slightly prominent clitoris and anteriorly placed anus, small umbilical hernia; TNDM; smiling at 6m, sitting at 7.5m, standing with support 1y; At 2y8m epicantic folds, thicker upper lip and prominent cheeks
06- WpU-sSMC/ 2-1	06- Uu- 2-1	female/ newborn	PBL	47,XX,+r[50%]/ 46,XX[50%]	r(6)(::p12.3→q10)* arr [GRCh37] 6p12.3p11.2 (47936475_58614061) x 2~3	FISH, SNP-aCGH	IUGR, macroglossia, initial developmental delay, transient neonatal diabetes mellitus followed by a congenital hyperinsulinism	{1456}

segmental pat UPD-cases with or unclear clinical correlation

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- WpU-seg/ pter/ 1-1	female	postnatal	PBL	n.a. --- 6pter to 6q10	normal female with hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (gene CYP21A2 in 6p21.33)	{249}
06- WpU-seg/ q13/ 1-1	n.a.	postnatal	PBL	n.a. --- 6q13 to 6qter	DD no gene identified	{1604} case 4 in App. 4
06- WpU-seg/ q22.2/ 1-1	female	postnatal	PBL	n.a. --- 6q22.2 to 6qter	TNDM and merosin-deficient congenital muscular dystrophy (gene LAMA2 in 6q22.33) ; twin sister normal	{827}
06- WpU-seg/ q23.2/ 1-1	female twins	newborn	PBL	46,XX (monozygote) --- 6q23.2 to 6qter	TNDM	{583}
06- WpU-seg/ q23.3/ 1-1	male	newborn	PBL	46,XY --- 6q23.3 to 6qter	TNDM	{147}
06- WpU-seg/ q24/ 1-1	n.a.	postnatal	PBL	n.a. --- 6q24 to ?6q24	TNDM	{492}
06- WpU-seg/ q24/ 1-2	male	<1y	PBL	n.a. --- 6q24 to ?6q24	TNDM	{1025}

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
06- 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
06- WpU-imb/ 1-1	female	newborn	PBL	47,XXX	TNDM	{453}
06- WpU-imb/ 2-1	male	newborn	PBL	47,XXY	TNDM	{463}
06- WpU-imb/ 3-1	n.a.	newborn	AF	47,+6/46	TNDM (iso-UPD 6)	{619} case 6
06- WpU-imb/ 3-2	female	prenatal	AF, placenta, PBL	AF: 47,XX,+6[3]/46,XX[27] placenta: 47,XX,+6 PBL: 46,XX	TNDM	{631} case 6
06- WpU-imb/ 3-3	n.a.	prenatal	PBL	46,XN,+6 acc. to NIPT	TNDM suggested TOP	{1389} case 109

mosaic cases

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