ChromosOmics - Database

                                                     - CHROMOSOME 20 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 20

UPD PATERNAL
 CHR . 20
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
grade of mosaicism

clinical symptoms
reference
20-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
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
20-
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
20-
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
20-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
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
20-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
OmU-imb7
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
20-
WmU-N/
1-1
male
17 months
PBL
n.a.
see below
{158} case 2
growth retardation at 17 months; birth weight <3rd centile, birth length <10th centile; at 17 months: macrocephaly, strabsim, clinodactyly on both hands, IGF-I and IGFBP3 levels decreased
20-
WmU-N/
1-2
female
9y
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation, incl. IUGR; failure to thrive and reflux, scoliosis
{901} case 1
20-
WmU-N/
1-3

female
8y
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems, DYS, hyperpigmented spots on skin
{901} case 2
20-
WmU-N/
1-4

male
5y
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems, hypotonia, horseshoe kidney, VSD, slight DD
{901} case 4
20-
WmU-N/
1-5

male
6y
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems, hypotonia
{901} case 5
20-
WmU-N/
1-6

male
12y
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems, hypotonia
{901} case 6
20-
WmU-N/
1-7

female
9y
PBL
46,XX
methylaton sensitive PCR

growth retardation , incl. IUGR; feeding problems, hypotonia
{901} case 7
20-
WmU-N/
1-8

female
3m
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems
{901} case 8
20-
WmU-N/
1-9 to 1-10

male
2-10y
PBL
n.a.
growth retardation ,DD
Mulchandani-Bhoj-Conlin-syndrome

{1097, 1176, 1266} 2 cases
20-
WmU-N/
1-11 to 1-13

female
2-10y PBL
n.a.
growth retardation ,DD
Mulchandani-Bhoj-Conlin-syndrome
{1097, 1176, 1266} 3 cases
20-
WmU-N/
1-15

n.a.
newborn
PBL
n.a.
SNP array normal apart from UPD 20

growth retardation , incl. IUGR; feeding problems
{1188}
20-
WmU-N/
2-1 to 2-4

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
20-
WmU-N/
3-1

n.a.
postnatal
PBL
n.a.
Silver-Russel-syndrome like
{1027}
20-
WmU-N/
3-2

male
postnatal
PBL
n.a.
Silver-Russel-syndrome like
{1282} 1 case
20-
WmU-N/
3-3 to 3-5

n.a. postnatal
PBL
n.a.
Silver-Russel-syndrome like
{1314} 3 cases
20-
WmU-N/
4-1

male
3y
PBL
46,XY
Silver-Russel-syndrome like and infantile
hypercalcemia 
{1311}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
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
20-
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
grade of mosaicism

final FISH result of the sSMC
FISH
methods

clinical symptoms
reference
20-
WmU-sSMC/
1-1
20-W-
p13/
3-1
male/
1m
PBL
47,XY,+mar[100%]
min(20)(pterq11.1:)
centromeric probes, subcenM, MCB
see below
{0}
born at 36 weeks gestation; birth weight - 1.92kg; at birth - plagiocephaly; micrognathia; long philtrum; high arched palate; low set ears; slightly widened bulbar fingers; slightly prominent occiput and prominent forehead; right inguinal hernia; inverted nipples; hypospadius; torticollis; a heart scan at 3m showed 4 VSDs and a PFO. He also suffers from gastrooesophageal reflux; mild optic nerve hypoplasia, nystagmus and some asymmetric opsoclonus - more in the left eye than right eye. MRI brain scan in at 10m of age revealed a wide range of craniocerebral abnormalities, neurodevelepmental delay; dysplastic inner ear on left side and cerebellar tonsillar ectopia through the foramen magnum. At 1y he was operated on to lower his left un-descended testicle. Spine MRI and X-rays at 13m showed scoliosis. At 16m still unable to sit unaided and now had gaiters for his legs. Feeding problems after birth and was fed via an NG tube until 1y when a gastrosomy PEG was introduced. At 15m weight 7.22kg.
20-
WmU-sSMC/
2-1
20-W-
p11.1/
2-1
male/
4y
PBL
47,XY,+mar[20]/
46,XY[28]
min(20)(:p11.1q11.1:)
midi
growth retardation; minor facial DYS; hyperactive; mother at age of conception 40y; IUGR {32}
20-
WmU-sSMC/
3-1
20-
U-16

male/
1.5 y

PBL
47,XY,+mar[13]/
46,XY[7]

mar(20)(p12.2q11.21)
aCGH: 10.61-29.64 Mb

aCGH
dysmorph, DD, cleft palate, growth retardation, frontal bossing
{864}


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
20-
WmU-seg/
p12/

1-1
male
4y
PBL
46,XY
---
20p12 to 20q13.13
growth retardation , incl. IUGR; feeding problems, epicanthus, hyperpigmented spots on skin
{901}
case 3


mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
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
grade of mosaicism

clinical symptoms
reference
20-
WmU-imb/
1-1
female
prenatal
AF; PBL
47,XX,+20/46,XX in AF
46,XX in PBL
IUGR; growth retardation; clinodactyly, delayed psychomotor development
{315}
20-
WmU-imb/
2-1
female
prenatal
AF; PBL, placenta, urine sediment
47,XX,+20/46,XX in AF, PBL
47,XX,+20 in urine and placenta
IUGR; growth retardation; delayed psychomotor development
{366}
20-
WmU-imb/
3-1
male
3y AF/ PBL 47,XY,+20/46,XY in AF

46,XY in PBL
DD, DYS
(gene GLI2 in 2q14.2)
{1283}
20-
WmU-imb/
4-1
male
prenatal AF/ PBL 47,XY,+20/46,XY in AF
Mulchandani-Bhoj-Conlin-syndrome
{1282} 1 case

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
20-
WmU-imb/
mos/

1-1
-
-
-
-
-
-