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
grade of mosaicism

clinical symptoms
reference
07-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
07-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

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
grade of mosaicism

clinical symptoms
reference
07-
OmU-imb/
1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
grade of mosaicism

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/
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/
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}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
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
grade of mosaicism

clinical symptoms
reference
07-
WmU-bal/
1-1
female
newborn
PBL
46,XX,t(7;16)(q21;q24)mat
SRS
{154}
07-
WmU-bal/
2-1 to 2
see 07-WmU-seg-q11/1-1 to 1-2
07-
WmU-bal/
3-1
male
2y
PBL
46,XX,t(7;13)(q11.2;q14)mat
SRS
{611; 646}


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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
07-
WmU-sSMC/
1-1
07-W-
p12/
1-1
male/
4m
PBL
47,XY,+mar[4]/
46,XY[46]
min(7)(:p12p11.1:)
cep probes
ELN-probe

Dystrophy, develop-mental delay, abnormal ears
{0} case provided by Dr. M. Volleth (Magdeburg, Germany)
07-
WmU-sSMC/
2-1
07-Uu-2
female/
5y
PBL
47,XX,+mar[15]
min(7)(:p11.2q11.1:)
cenM; subcenM
see below
{1065}
case 2
{1174} case sSMC7a
pre- and postnatal growth-retardation; height at age of 4.5 9cm below 3rd percentile, weight: 3kg below 3rd percentile; macrocephalus; macro cornea; Silver Russel syndrome confirmed by molecular genetics
07-
WmU-sSMC/
3-1
07-W-
p11.2/
1-3
male/
1y
PBL
47,XY,+mar[9]/
46,XY[16]
min(7)(:p11.2q11.21:)*
centromere-near BACs, centromeric probe 7
see below
{9}
Intrauterine growth retardation from 34th week of pregnancy → birth induced at 38 weeks of gestation; birth weight 2305 g (<3rd percentile), length 45 cm ([lt]10th percentile)and OFC 34 cm (50th percentile). At 1y, growth retardation: length 68 cm (<3rd percentile), weight 5740 g (<3rd percentile) OFC 45 cm (10-25th percentile). Triangular face, large, low set ears and mild psychomotor retardation; could not roll over or sit up alone → Silver Russel syndrome signs.
07-
WmU-sSMC/
3-2
07-W-
p11.2/
1-4
male/
36y
PBL
47,XY,+mar[22]/
46,XY[7]
min(7)(:p11.2q11.21:)*
centromere-near BACs, centromeric probe 7
Silver Russel syndrome, Myoclonus dystonia
{196}
07-
WmU-
sSMC/
3-3

07-
Uu-9

female/
postnatal

PBL
47,XX,+mar[4]/
46,XX[12]

min(7)(:p11.2→q11.21:)
aCGH: [GRCh37]
54,010,055-63,986,785

aCGH

UPD test
Silver Russel syndrome
{1174} case sSMC7c
07-
WmU-
sSMC/

4-1
07-W-
p11.2/
2-1
n.a./
n.a.
PBL
47,+mar[4%]/
46[96%]
r(7)(::p11.2q21::)*
centromere-probes, wcp 7
see below
{10}
IUGR, caesarean section in week 33 of gestation, Silver Russel syndrome; twin brother normal (dizygote)
07-
WmU-
sSMC/

4-2
07-W-
p11.1/
2-2
female/
20m
PBL
47,XX,+mar[27%]/
46,XX[73%]
r(7)(::p11.1q11.2?2::)*
FISH-probe wcp7
see below
{11; 12}
birth weight 1020 g in week 34; intrauterine and postnatal growth retardation, no mental retardation (?); triangular face, micrognathia, hypertelorism, clinodactyly of 5th finger; Silver Russel syndrome confirmed by molecular genetics
07-
WmU-
sSMC/

4-3
07-
U-21

male/
3y
PBL
47,XY,+mar[75%]/
46,XY[25%]

min(7)(:q11.1→p11.1:
:p11.1→q11.21:)

cenM, subcenM
SRS
{0} provided by Dr. Yardin, Montpellier, France
07-
WmU-
sSMC/
5-1

07-
Uu-10

female/
postnatal

PBL
47,XX,+mar[27]/
46,XX[3]

r(7)(::p22.1→q11.23::)
aCGH[GRCh37]
61,274,531-73,735,597

aCGH
SRS
{1174} case sSMC7b


segmental mat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WmU-
seg/
1-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 19, 45 and 9 MB
Failure to thrive
{652} case 17
07-
WmU-
seg/
2-1
n.a.
n.a.
PBL
n.a.
---
exact localization not reported - only size of 9, 10, 32, 25 and 3 MB
growth retardation
{652} case 18
07-
WmU-seg/
2-1

male
newborn
PBL
n.a.
---
q-arm - but exact size not reported

distal (type I) renal tubular acidosis (gene ATPV0A4 in 7q33~34)
{1074} case 2
07-
WmU-
seg/
q11/

1-1
female
prenatal
AF; PBL
46,XX,i(7)(p10),i(7)(q10)
---
7q10 to 7qter
growth retardation; SRS?
{42}
07-
WmU-
seg/
q11/

1-2
male
newborn
PBL
46,XY,i(7)(p10),i(7)(q10)
---
7q10 to 7qter
growth retardation; SRS?
{415}
07-
WmU-seg/
q11/
2-1

male
6y
PBL
n.a.
---
7q11 to 7qter, mosaic with normal cells

SRS
{1036}
07-
WmU-seg/
q11/
3-1

male
6y
PBL
n.a.
---
7q11 to 7qter

SRS, congenital chloride diarrhea
(gene SLC26A3 in 7q

22.3-q31.1)
{1321}
07-
WmU-
seg/
q11/

3-1
female
7y
PBL
46,XX
---
7q10 to 7q22
IUGR, SRS; cystic fibrosis (gene CFTR in 7q31.2)
{39; 40, 336}
07-
WmU-
seg/
q11.2/

1-1 to 2
male, female
postnatal
PBL
n.a.
---
7q11.2 to 7qter
SRS
{161; 1026}
07-
WmU-
seg/
q21/

1-1
male
2y
PBL
n.a.
---
7q21 to 7qter, mosaic with normal cells
IUGR, SRS; cystic fibrosis (gene CFTR in 7q31.2)
{299}
07-
WmU-
seg/
q21.13/

1-1
n.a.
postnatal PBL
n.a.
---
7q21.13 to 7q22.3
SRS-like
{1369} case 25
07-
WmU-
seg/
q22/

1-1
female
abortion
tissue
46,XX
---
7q22 to 7qter
spontaneous abortion
{358} case 107
07-
WmU-
seg/
q31/

1-1
female
postnatal
PBL
n.a.
---
7q31 to 7qter
SRS
{114; 115; 116; 767}
07-
WmU-
seg/
q31/

1-2
n.a.
postnatal
PBL
n.a.
---
7q31 to 7qter
SRS
{200, 202}
07-
WmU-
seg/
q32/

1-1
male
3y
PBL
46,XY
---
7q32 to 7qter
SRS; also mat UPD-14 syndrome due to methylation defect in DLK1/GTL2 in 14q32
{661; 1024}
07-
WmU-
seg/
q33/

1-1
n.a.
prenatal
CH, AF n.a.
---
7q33 to 7qter;
  132,92 Mb
[hg19]
VSD
{1363} case 8

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WmU-
seg/
/
mos/

1-1
- - - - - -


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

no UPD 7 detected in 247 cases diagnosed with trisomy 7 in NIPT {1306}

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WmU-imb/
1-1
female
prenatal
AF
47,XX,+7/46,XX
SRS
{103; 180}
07-
WmU-imb/
1-2
female
prenatal
AF
chorion
47,XX,+7/46,XX in chorion
46,X in AF
SRS
{243}
07-
WmU-imb/
1-3
n.a.
prenatal; postnatal
placenta

47,+7/46 in placenta
SRS
{261, 1024, 263} 1 case
07-
WmU-imb/
1-4
male
postnatal
PBL, skin fibros
47,XY,+7/46,XY in skin
46,XY in PBL
SRS, Hirschsprung disease
(gene on 10q11.21)

{521}
07-
WmU-imb/
1-5
male
prenatal
AF, placenta
47,XY,+7/46,XY
child born, SRS
{543; 832}
07-
WmU-imb/
1-6
male
postnatal
PBL
47,XY,+7/46,XY
SRS
{608}
07-
WmU-imb/
2-1

male
12y
PBL
46,XY,del(10)(q11.22q11.23)
SRS
{986} case 9

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
07-
WmU-imb/
mos/

1-1
female
- - - - -