TL

ChromosOmics - Database

- CHROMOSOME 7 -
- maternal UPD -

UPD unclear if maternal or paternal CHR . 7	UPD PATERNAL CHR . 7
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 karotype
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
07- OmU-N/ 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- 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
07- 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
07- 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
07- OmU-seg/ / 1-1	-	-	-	-	-	-

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- 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
07- OmU-imb/ 1-1	-	-	-	-	-	-

mosaic cases

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

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

Silver-Russel-syndrome (SRS) can now be identified by help of facial diagnostic, supported by computer aid {1472}

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- WmU-N/ 1-1	female	prenatal	PBL	46,XX	Silver-Russel-syndrome (= SRS)	{43}
07- WmU-N/ 1-2 to 4	1 n.a., 1 female 1 male	postnatal	PBL	n.a.	SRS	{100} cases RSS-11; RSS-44, {534} 3 cases
07- WmU-N/ 1-5 to 9	n.a.	postnatal	PBL	n.a.	SRS	{104; 105; 774}
07- WmU-N/ 1-10 to 15	4x female and 1x male; 4x n.a.	postnatal	PBL	n.a.	SRS	{114; 115; 116; 119; 160; 164; 171; 767}
07- WmU-N/ 1-16 to 18	n.a.	postnatal	PBL	n.a.	SRS	{159}
07- WmU-N/ 1-19	n.a.	pre- and postnatal	AF PBL	n.a.	SRS	{194} case 44
07- WmU-N/ 1-20 to 23	n.a.	postnatal	PBL	n.a.	SRS	{201, 202} 4 cases
07- WmU-N/ 1-24	n.a.	postnatal	PBL	n.a.	SRS	{202} 1 case
07- WmU-N/ 1-25 to 26	n.a.	postnatal	PBL	n.a.	SRS	{217} 2 cases
07- WmU-N/ 1-27	n.a.	postnatal	PBL	n.a.	SRS	{234} 1 case
07- WmU-N/ 1-28 to 30	n.a.	postnatal	PBL	n.a.	SRS	{238} 3 cases
07- WmU-N/ 1-31 to 34	n.a.	postnatal	PBL	n.a.	SRS	{239} 4 cases; {240} these 4 plus 5 cases
07- WmU-N/ 1-35 to 39	n.a.	postnatal	PBL	n.a.	SRS	{260; 261; 262; 263; 267; 349; 1024} overall 4 cases
07- WmU-N/ 1-40	male	prenatal	AF	46,XY	SRS	{269}
07- WmU-N/ 1-41 to 42	n.a.	postnatal	PBL	n.a.	SRS	{279} 2 cases
07- WmU-N/ 1-43	moved to 07-WmU-N/9-2
07- WmU-N/ 1-44 to 45	n.a.	postnatal	PBL	46,XN	SRS	{295} 2 cases
07- WmU-N/ 1-46 to 50	n.a.	postnatal	PBL	46,XN	SRS	{296} 5 cases
07- WmU-N/ 1-51	n.a.	postnatal	PBL	n.a.	SRS	{313} 1 case
07- WmU-N/ 1-52 to 54	2 male and 1 female	prenatal	AF	46,XN	SRS; placental hypoplasia	{389; 731, 1176} 3 cases
07- WmU-N/ 1-55	n.a.	n.a.	n.a.	n.a.	SRS	{457}
07- WmU-N/ 1-56 to 57	n.a.	n.a.	n.a.	n.a.	SRS	{458}
07- WmU-N/ 1-58 to 62	n.a.	n.a.	n.a.	n.a.	SRS	{475}
07- WmU-N/ 1-63	n.a.	n.a.	n.a.	n.a.	SRS	{478}
07- WmU-N/ 1-64	female	10y	PBL	n.a.	SRS	{135}
07- WmU-N/ 1-65 to 84	male and female	postnatal	PBL	n.a.	SRS	{577} 20 cases
07- WmU-N/ 1-85 to 88	n.a.	5m to 9y	PBL	n.a.	SRS (mixed h-i-UPD 7 of different extents)	{619} cases 19-22
07- WmU-N/ 1-89 to 96	n.a.	postnatal	PBL	n.a.	SRS (mixed h-i-UPD 7 of different extents)	{622} 8 cases
07- WmU-N/ 1-97	male	4.5y	PBL	46,XY	SRS	{629}
07- WmU-N/ 1-98 to 105	n.a.	postnatal	PBL	46,XN	SRS (also 3 extraordinary cases)	{639} 8 cases {662; 731, 1176}
07- WmU-N/ 1-106 to 115	n.a.	postnatal	PBL	n.a.	SRS	{675}
07- WmU-N/ 1-116 to 118	n.a.	postnatal	PBL	n.a.	SRS	{700}
07- WmU-N/ 1-119	n.a.	postnatal	PBL	n.a.	SRS	{729}
07- WmU-N/ 1-120 to 124	n.a.	postnatal	PBL	46,XN	SRS	{731, 1176}
07- WmU-N/ 1-125 to 126	n.a.	postnatal	PBL	n.a.	SRS	{767} 2 cases
07- WmU-N/ 1-127 to 128	n.a.	postnatal	PBL	n.a.	SRS	{774} 2 cases
07- WmU-N/ 1-129	n.a.	postnatal	PBL	n.a. only SNP-aCHG	SRS isoUPD 7 in 7q11.2-q31 rest most likely hUPD	{842}
07- WmU-N/ 1-130	n.a.	postnatal	PBL	n.a.	SRS	{853}
07- WmU-N/ 1-131 to 1-140	n.a.	postnatal	PBL	n.a.	SRS	{875} 10 cases
07- WmU-N/ 1-141	female	1y	PBL	n.a.	SRS	{896} case 7
07- WmU-N/ 1-142	male	3y	PBL	46,XY	SRS	{896} case 8
07- WmU-N/ 1-143 to 1-144	n.a.	postnatal	PBL	n.a.	SRS	{947} cases 83, 110
07- WmU-N/ 1-145	n.a.	postnatal	PBL	n.a.	SRS isoUPD 7 in 7p11.2q21.3 and 7q32.1q36.1 rest most likely hUPD	{962} 1 case
07- WmU-N/ 1-146 to 1-151	n.a.	postnatal	PBL	n.a.	SRS	{970} 6 cases
07- WmU-N/ 1-152 to 1-222	male and female	postnatal	PBL	n.a.	SRS	{1024; 1025} overall 70 cases
07- WmU-N/ 1-223 to 1-238	male and female	postnatal	PBL	n.a.	SRS	{1152} 16 cases (maybe mentioned already in other studies)
07- WmU-N/ 1-239 to 1-270	male and female	postnatal	PBL	n.a.	SRS	{1153} 32 cases (maybe mentioned already in other studies)
07- WmU-N/ 1-271 to 1-272	n.a.	postnatal	PBL	n.a.	SRS	{1173} 2 cases
07- WmU-N/ 1-273 to 1-276	n.a.	postnatal	PBL	n.a.	SRS	{1190} 4 cases
07- WmU-N/ 1-277 to 1-279	n.a.	postnatal	PBL	n.a.	SRS	{1203} 3 cases
07- WmU-N/ 1-280	n.a.	postnatal	PBL	n.a.	SRS	{1213} case N5
07- WmU-N/ 1-281 to 1-298	n.a.	postnatal	PBL	n.a.	SRS	{1214} 18 cases
07- WmU-N/ 1-299 to 1-333	n.a.	postnatal	PBL	n.a.	SRS	{1270, 1271} 35 cases
07- WmU-N/ 1-334 to 1-336	n.a.	postnatal	PBL	n.a.	SRS	{276} 3 cases
07- WmU-N/ 1-337	n.a.	postnatal	PBL	n.a.	SRS	{1290} 1 case
07- WmU-N/ 1-338 to 1-340	n.a.	postnatal	PBL	n.a.	SRS	{1297} 3 cases
07- WmU-N/ 1-341	n.a.	postnatal	PBL	n.a.	SRS	{1324} 1 case
07- WmU-N/ 1-342	male	postnatal	PBL	46,XY	SRS	{1354} case p4
07- WmU-N/ 1-343	n.a.	postnatal	PBL	n.a.	SRS (suggested to be Down syndrome)	{1387} 1 case
07- WmU-N/ 1-344 to 1-356	n.a.	postnatal	PBL	n.a.	SRS	{1395} 13 cases
07- WmU-N/ 1-357	n.a.	postnatal	PBL	n.a.	SRS	{1427} 1 case
07- WmU-N/ 1-358 to 1-360	n.a.	postnatal	PBL	n.a.	SRS	{1466} 3 cases
07- WmU-N/ 1-361 to 1-367	n.a.	postnatal	PBL	n.a.	SRS	{1481} 7 cases
07- WmU-N/ 1-368	female	20y	PBL	n.a.	SRS	{1499}
07- WmU-N/ 1-369 to 370	female and male	postnatal	PBL	n.a.	SRS detected ealy after birth during paternity teting	{1517} cases 1 and 2
07- WmU-N/ 1-371 to 377	female and male	postnatal	PBL	n.a.	SRS	{1518} 7 cases
07- WmU-N/ 1-378 to 1-379	male female	prenatal	AF	46,XY 46,XX	SRS TOP	{1528} cases 6 and 26
07- WmU-N/ 1-380	n.a.	prenatal	AF	n.a.	SRS TOP	{1541} case 3
07- WmU-N/ 1-381	male	~4y	PBL	n.a.	SRS	{1579} case 19
07- WmU-N/ 1-382 to 1-388	n.a.	postnatal	PBL	n.a.	SRS	{1586} 2 cases
07- WmU-N/ 1-384 to 1-385	n.a.	postnatal	PBL	n.a.	SRS	{1603} cases 3-8, 17-18
07- WmU-N/ 1-386 to 1-387	n.a.	prenatal	AF	n.a.	SRS	{1604} cases 30 and 31 in App. 2
07- WmU-N/ 1-388 to 1-419	n.a.	postnatal	PBL	n.a.	SRS	{1605} 42 cases
07- WmU-N/ 1-420	male	4y	PBL	46,XY	SRS	{1606}
07- WmU-N/ 2-1	male	4y	PBL	46,XY	short stature (SRS), cystic fibrosis (gene CFTR in 7q31.2)	{38}
07- WmU-N/ 2-2	female	newborn	PBL	n.a.	SRS; cystic fibrosis (gene CFTR in 7q31.2)	{333}
07- WmU-N/ 2-3	male	newborn	PBL	46,XY	SRS; cystic fibrosis (gene CFTR in 7q31.2)	{402}
07- WmU-N/ 2-4	n.a.	newborn	PBL	n.a.	SRS; cystic fibrosis (gene CFTR in 7q31.2)	{477}
07- WmU-N/ 2-5	n.a.	newborn	PBL	n.a.	SRS; cystic fibrosis (gene CFTR in 7q31.2)	{1039}
07- WmU-N/ 2-6	n.a.	10m	PBL	n.a.	SRS; cystic fibrosis (gene CFTR in 7q31.2)	{1160}
07- WmU-N/ 3-1	male	30y	PBL	46,XY	SRS and Osteogenesis imperfecta (gene COL1A2 in 7q21.3)	{44; 515; 516}
07- WmU-N/ 4-1 to 4-2	female, male	postnatal	PBL	46,XN	SRS, developmental verbal dyspraxia (gene FOXP2 in 7q31.1)	{170} cases 12 and 13
07- WmU-N/ 5-1	n.a.	postnatal	PBL	46,XN	SRS (?), recessive myotonia congenita (gene CLCN1 in 7q34)	{191} case 1; {486}
07- WmU-N/ 6-1	female	7y	PBL	n.a.	SRS, myoclonus, infantile hypercalcaemia, bilateral Duane anomaly; partial iUPD - gene not found	{565}
07- WmU-N/ 7-1	n.a.	2y 5m	PBL	n.a.	SRS ?, Premature birth (30 wks), urethral stenosis, developmental delay (iso-UPD 7) - no mutated gene found	{619} case 7
07- WmU-N/ 8-1	n.a.	1y	PBL	n.a.	SRS ?, (iso-UPD 7) - no mutated gene found	{619} case 8
07- WmU-N/ 8-2	male	5m	PBL	46,XY	SRS and Anderson's disease /chylomicron retention disease - no mutation in 5q31.1 in SAR1B gene normally causative for latter syndrome	{649}
07- WmU-N/ 9-2	n.a.	postnatal	PBL	n.a.	SRS and myoclonic dystonia-11 (gene SGCE in 7q21.3)	{724}
07- WmU-N/ 10-1	male	postnatal	PBL	n.a.	SRS; preaxial polydactyly type 1 (gene GLI3 in 7p14.1)	{293}
07- WmU-N/ 11-1	female	10m	PBL	n.a.	SRS and Argininosuccinic acuria (ASA) (gene ASL in 7q11.21)	{821}
07- WmU-N/ 11-2	male	newborn	PBL	n.a.	SRS and Argininosuccinic acuria (ASA) (gene ASL in 7q11.21)	{1394}
07- WmU-N/ 12-1 to 12-2	n.a.	n.a.	n.a.	n.a.	n.a.	{982}
07- WmU-N/ 13-1	female	3y	PBL	n.a.	SRS and Pendred syndrome (iUPD in whole 7q)	{1127}
07- WmU-N/ 13-2	male	postnatal	PBL	46,XY	SRS and Pendred syndrome (gene SLC26A4 in 7q22.3)	{1235}
07- WmU-N/ 14-1	female	4y	PBL	n.a.	SRS and SPG50 (gene AP4M1 in 7q22.1)	{1310}
07- WmU-N/ 15-1	male	8m	PBL	n.a.	SRS due to UPD(7)mat; also there is a UPD(9)pat	{1476} patient 1

mosaic cases

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- WmU-N/ mos/ 1-1	male	prenatal	AF	46,XY UPD in 45%	child with minor symptoms born	{1528} case 14

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

case no.	gender	age at diagnosis	studied material	GTG-banding result	clinical symptoms	reference
07- WmU-bal/ 1-1	female	newborn