ChromosOmics - Database

                                                     - CHROMOSOME 9 -                                                    
- maternal  UPD -

UPD unclear if maternal or paternal
 CHR . 9

UPD PATERNAL
 CHR . 9
UPD-cases without clinical findings
+ normal karyotype
UPD-cases with or unclear clinical
correlation + normal karyotype
UPD-cases without clinical findings
+ balanced karotype
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
09-
OmU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
OmU-bal/
1-1

female
34y
PBL
46,XX,i(9)(p10),i(9)(q10)
normal woman, repeated abortions
{108}


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
-
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
09-
OmU-seg/
/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
OmU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
WmU-N/
1-1
male
12th week of gestation
placenta
46,XY
spontaneous abortion in week 12; at week 10 growth retardation
{183} case 1
09-
WmU-N/
2-1 to 2
females
newborn/ childhood
PBL
46,XX
cartilage-hair hypoplasia (gene RMRP in 9p13.3)
{342} cases 1 and 2
09-
WmU-N/
3-1
female
stillborn twins
PBL
46,XX
Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2)
{352}
09-
WmU-N/
4-1
female
newborn
PBL
46,XX
cleft palate, VSD, hip subluxation, dysmorphic face; (neonatal diabetes mellitus and) congenital hypothyroidism (gene FOXE1 in 9p22.33)
{575, 576}
09-
WmU-N/
5-1

male
34y
PBL
46,XY
(trisomy 9 mosaic excluded in blood and buccal smear)
see below
{676}
renal failure because of IgA nephropathy, hypothyroidism, short stature with overweight, hypercholesterinemia, hypertriglyceridemia and, hyperuricemia; dislocation of patella, atopic eczema, eye problems (strabism, nystagmus, myopic astigmatism), inguinal hernias and umbilical hernia as an infant. Since infancy a disproportional large distended abdomen was noted with unidentified cause. At the age of about 15 years some hearing problems on the left side were noted.
09-
WmU-N/
6-1

male
postnatal
PBL
n.a.
sarcosinemia (SARDH gene in 9q34.2)
{694} family F, case II-3
09-
WmU-N/
7-1

n.a.
postnatal
PBL
n.a.
Abnormality of the heart, lobal DD. specific learning disability, abnormality of prenatal development or birth
{763} case 260453
09-
WmU-N/
8-1

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
09-
WmU-N/
9-1

n.a.
postnatal
PBL
n.a.
details n.a.
found in a cohort of children with inborn heart disease heterodisomy
{1066}
09-
WmU-N/
10-1

n.a.
postnatal
PBL
n.a.
Multiple Craniosynostosis and Facial Dysmorphisms
{1207}
09-
WmU-N/
11-1

female
postnatal
PBL
n.a.
congenital disorders of glycosylation (CDG)  {1239}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
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
09-
WmU
sSMC/
1-1
09-
W-p12/
1-1
female/
?
PBL
47,XX,+mar[36%]/
46,XX[64%]
r(9)(::p12q10::)
midi
see below
{13} case L
{14} case D
{15} case 4

Born at week 39 by cesarean section; birth weight: 2900g, length: 49cm; had moderate mental retardation and speech delay, but no obvious DYS.


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
09-
WmU-
seg/
q11/

1-1
male
3y
PBL
46,XY
---
9q11 to 9qter
Leigh syndrome, due to COX deficiency (gene SURF1 in 9q34.2)
{362}
09-
WmU-seg/
q34.3 to qter/
1-1

female
8y
PBL
n.a.
---
9q3?4.3 to 9qter

Invasive Exophila infection (gene CARD9 in 9q34.3)
{831}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
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
09-
WmU-imb/
1-1
female
prenatal
CH, AF, PBL
47,XX,+9/46,XX
no DD; minor facial DYS and skeletal abnormalities
{329}
09-
WmU-imb/
1-2 to 3
male and female
prenatal
CH, AF
47,XN,+9/46,XN
TOP in both cases
{361} cases 3 and 7
09-
WmU-imb/
1-4
female
prenatal
CH, placenta; different tissues
47,XX,+9/46,XX
TOP
{381}
09-
WmU-imb/
1-5
male
17y
PBL
47,XY,+9/46,XY
DYS, MR
{382}
09-
WmU-imb/
1-6
female
prenatal
AF
mos 47,XX,+9/46,XX
see below
{552}
AMA; TOP; malformed fetus born: clenched hands, hypertelorism, a large forehead, bilateral epicanthal folds, a broad nasal bridge, low-set posteriorly rotated ears, a thin upper lip, micrognathia, and a short neck
09-
WmU-imb/
1-7
n.a.
prenatal
CH
mos 47,+9/46
n.a.
{619} case 24
09-
WmU-imb/
1-8
female
3m
PBL
47,XX,+9[4]/46,XX[96]
congenital heart defect including VSD, pigmentary skin lesions along the lines of Blaschko, dysmorphic face, microcephaly
{648}
09-
WmU-imb/
1-9

n.a.
6y
PBL
46,XN,der(9)(pter→p21.3:
:p22.3→qter)
in aCGH dup:
15.48-25.14 Mb
UPD(9)seg: 9pter→9p36.33
in aCGH: 0-15.50 Mb

n.a.
{858} case 130

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
09-
WmU-imb/
mos/

1-1
-
-
-
-
-
-