ChromosOmics - Database

                                                     - CHROMOSOME 8 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 8

UPD PATERNAL
 CHR . 8
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
08-
OmU-N/
1-1
male
adult
PBL
46,XY
detected during diabetes 2 gene hunt, history of early onset ileal cancer
{229}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
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
08-
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
08-
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
08-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
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
08-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
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
08-
WmU-N/
1-1
male
10y
PBL
46,XY
neuronal ceroid lipofuscinosis 8 (gene CLN8 in 8p23.3)
{493}
08-
WmU-N/
2-1
n.a.
6m
PBL
n.a.
Prominent forehead, plagiocephaly, hypertelorism, low set ears, short toe, inside ear prominent, pneumothorax (mixed h-i-UPD 8)
{619} case 23
08-
WmU-N/
3-1

male
8y
PBL
n.a.
Psychomotor retardation
{896} case 2
08-
WmU-N/
4-1

n.a.
prenatal
AF
n.a.
multicystic dysplastic kidneys, enlarged cisterna magna, and was suggestive of occipital encephalocele;
Meckel-Gruber syndrome
(gene
TMEM67 in 8q22.1)
{1013}
08-
WmU-N/
5-1

n.a.
postnatal
PBL
n.a.
details n.a.
found in a cohort of children with inborn heart disease heterodisomy
here it is known that gene
CHD7 in 8q12.2 is maternally methylated
{1066}
08-
WmU-N/
6-1

female
10y
PBL
n.a.
Motor delay, spastic diplegia at 2y; difficulty speaking, hypophonia, difficulty opening mouth (gene ERLIN2 in 8p11.23)
{1209} family 2

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
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
08-
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
08-
WmU-sSMC/

1-1
08-
U-25

male/
6y
PBL
47,XY,+mar[60%]/
46,XY[40%]

min(8)(:p11.22q11.21:)
aCGH-data (hg19):
38,989,813–50,283,147

aCGH;
UPD-test

see below
{960}
pregnancy with polyhydramnios, and dilatation of the pelvicalyceal system. After birth normal growth pattern with gastroesophageal (GE) reflux for the first few months. At 2 years delayed speech, hypermetropia in the left eye. He talked at 3 years with dysarthria probably secondary to hypotonia. ADHD. At 5 years he could follow the orders of three words, and his fine motor and gross motor skills were at 4 years. Hyperphagia, and at 6 years, weight 28 kg (75th centile), height 123 cm (90th centile), and head circumference is 55 cm (<2 SD above the mean); mild mental retardation


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
08-
WmU-seg/

1-1
n.a.
postnatal
PBL
n.a.
---
exact localization or size not reported
Developmental and speech delay, ptosis
{1213} case V4

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
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
08-
WmU-imb/
1-1
female
newborn
PBL
45,XX,-8,-8,+psu dic(8)(p23.3)
Ataxic gait, growth delay, psychomotor delay
{292}
08-
WmU-imb/
2-1
female
prenatal
AF
45,XX,-8,-8,+psu dic(8;8)(p23.1;p23.3)
TOP; autopsy revealed hypoplasia of teh cerbellar vermis and dilatation of tubules of the left kidney
{420}
08-
WmU-imb/
3-1
female
newborn
PBL
47,XY,+del(8)(q21.1)[8%]/46,XY[92%]
Nijmegen breakage syndrome (gene NBN in 8q21.3)
{364}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
08-
WmU-imb/
mos/

1-1
-
-
-
-
-
-