ChromosOmics - Database


Icon by Leon Liehr             

                                                     - 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
 clinical symptoms
 reference
20-
OmU-N/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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
 clinical symptoms
 reference
20-
OmU-seg/
/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 clinical symptoms
 reference
20-
OmU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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/
1-16 to 1-17
 n.a.
 postnatal
 PBL
 n.a.
 growth retardation , DD
{1604} cases 21 and 22 in App. 2
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/
3-6
 male ~4y
 PBL
 n.a.
 Silver-Russel-syndrome like
{1497}
20-
WmU-N/
3-7
 n.a. postnatal PBL
 n.a.
 Silver-Russel-syndrome like
{1586} 1 case
20-
WmU-N/
3-8 to 3-17
 n.a. postnatal PBL
 n.a.
 Silver-Russel-syndrome like
{1605} 10 cases
20-
WmU-N/
4-1
 male
 3y
 PBL
 46,XY
 Silver-Russel-syndrome like and infantile
hypercalcemia  		{1311}
20-
WmU-N/
5-1
 n.a.
 prenatal
 AF
 n.a.
 n.a. {1486} case 20
20-
WmU-N/
5-2
 n.a.
 prenatal
 AF
 n.a.
 n.a. {1523}

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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)(pter→q11.1:)
 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)(:p11.1→q11.1:)
 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
 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
 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
 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
 clinical symptoms
 reference
20-
WmU-imb/
mos/
1-1 		n.a.
 prenatal
 AF
 47,XN,+20[>10%]/
46,XX[<90%]
UPD in >90%
 		TOP
 {1515} case 4