ChromosOmics - Database

                                                     - CHROMOSOME 15 -                                                    
- paternal UPD -

UPD MATERNAL
 CHR . 15

UPD unclear if maternal or paternal
 CHR . 15
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


pat UPD-cases without clinical findings + normal karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OpU-N/

1-1
- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OpU-N/
mos/

1-1
- - - - - -


pat UPD-cases without clinical findings + balanced karyotype

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OpU-bal/
1-1

- - - - - -


pat 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
15-
OpU-sSMC/
1-1

- - - - - - - -


segmental pat UPD-cases without clinical findings

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OmU-seg/
q15.3/
1-1
n.a.
42y
PBL
46,XN
---
15q15.3 to 15qter;
  43.99 Mb
[hg19]
clincally normal
infertile

{1363} case 12

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OmU-seg/
/
mos/
1-1
- - - - - -


pat UPD-cases without clinical findings + other imbalances

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OpU-imb/

1-1

- - - - - -

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
OpU-imb/
mos/

1-1

- - - - - -


pat UPD-cases with or unclear clinical correlation + normal karyotype

Ref 1313 states that less than 1% of AS-patoents have a cytogenetic aberration in chr. 15

 
case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
WpU-N/
1-1
to 1-2
female
childhood
PBL
46,XX
Angelman syndrome = AS
{113} 2 cases; {308}
15-
WpU-N/
1-3
to 1-5
n.a.
childhood
PBL
n.a.
AS
{131} 3 cases; {308}
15-
WpU-N/
1-6

female
6y
PBL
n.a.
AS
{145} patient 2
15-
WpU-N/
1-7

male
18y
PBL
n.a.
AS
{150} patient 4
15-
WpU-N/
1-8
to 1-12
male and female
childhood
PBL
n.a.
AS
{185} cases 9-13
15-
WpU-N/
1-13

female
8y
PBL
46,XX
AS
{194} case 32
15-
WpU-N/
1-14

female
childhood
PBL
n.a.
AS
{196}
15-
WpU-N/
1-15

female
6y
PBL
46,XX
AS
{197}
15-
WpU-N/
1-16
to 1-17
female and male
6m and 6y
PBL
46,XX and 46,XY
AS
{253} cases W1 and D1
15-
WpU-N/
1-18
to 1-19
n.a.
n.a.
n.a.
n.a.
AS
{273} 2 cases
15-
WpU-N/
1-20

n.a.
postnatal
n.a.
n.a.
AS
{278}
15-
WpU-N/
1-21

n.a.
postnatal
n.a.
46,XN
AS
{281} 1 case
15-
WpU-N/
1-22

female
10y
PBL
46,XX
AS
{294}
15-
WpU-N/
1-23
to 1-29
male and female
postnatal
PBL
46,XN
AS
{302} 7 cases
15-
WpU-N/
1-30
to 1-44
8male and 9 female
postnatal
PBL
46,XN, 2x n.a.
AS
{308} 14 cases; {566} 4 cases
15-
WpU-N/
1-45

n.a.
postnatal
PBL
n.a.
AS
{514} 1 case
15-
WpU-N/
1-46

male
41m
PBL
46,XX
AS
{192}
15-
WpU-N/
1-47
to 1-49
n.a. postnatal
PBL
46,XN
AS
{314} 3 cases
15-
WpU-N/
1-50
to 1-53
n.a.
postnatal
PBL
46,XN
AS
{359} 4 cases
15-
WpU-N/
1-54
to 1-55
male and female
postnatal
PBL
46,XN
AS
{393} 2 cases
15-
WpU-N/
1-56
to 1-62
male and female
n.a.
n.a.
n.a.
AS
{475} 7 cases
15-
WpU-N/
1-63
to 1-65
1x male, 2x female
postnatal
PBL
46,XN
AS
{528} cases 28-30
15-
WpU-N/
1-66

female
postnatal
PBL
46,XX
AS
{530}
15-
WpU-N/
1-67

male
prenatal
AF
46,XY (chr. 15p with identical pat. heteromorphism)
AS
{593}
15-
WpU-N/
1-68
to 1-73
n.a.
postnatal
PBL
n.a.
AS
{595} 6 cases
15-
WpU-N/
1-74

n.a.
postnatal
PBL
n.a.
AS
{349} 1 case
15-
WpU-N/
1-75

n.a.
postnatal
PBL
n.a.
AS
{606} 1 case
15-
WpU-N/
1-76

n.a.
4m
PBL
n.a.
AS (iso UPD 15)
{619} case 12
15-
WpU-N/
1-77

n.a.
9y
PBL
n.a.
AS (iso UPD 15)
{619} case 14
15-
WpU-N/
1-78
to 1-79
n.a.
postnatal
PBL
n.a.
AS
{627} 2 cases
15-
WpU-N/
1-80
to 1-81
n.a.
postnatal
PBL
n.a.
AS
{641} 2 cases
15-
WpU-N/
1-82 to 1-83

n.a.
postnatal
PBL
n.a.
AS
{734} 2 cases
15-
WpU-N/
1-84

n.a.
postnatal
PBL
46,XN
n.a. in detail; clinically abnormal, AS
{163} case 23
15-
WpU-N/
1-85

n.a.
postnatal
PBL
n.a.
AS
{784}
15-
WpU-N/
1-86 to 1-90

n.a.
postnatal
PBL
n.a.
AS
{792; 824; 830} 5 cases
15-
WpU-N/
1-91 to 1-96

n.a.
postnatal
PBL
n.a.
AS
{828} 6 cases
15-
WpU-N/
1-97 to 1-98

male and female
postnatal
PBL
n.a.
AS
{859} 2 cases
15-
Wpu-N/
1-99 to 1-112

n.a.
postnatal
PBL
n.a.
AS
{874} 14 cases
15-
WpU-N/

1-113
male
postnatal
PBL
n.a.
AS
{925}
15-
WpU-N/
1-114

male
4y
PBL
n.a.
AS
{944}
15-
WpU-N/
1-115

n.a.
postnatal
PBL
n.a.
AS
isoUPD 15 in 15q14-q21.3
rest most likely hUPD

{962} 1 case
15-
WpU-N/
1-116 to 1-122

n.a.
postnatal
PBL
n.a.
AS
{990} 6 cases
15-
Wpu-N/
1-123

n.a.
postnatal
PBL
n.a.
AS
{1010} 1 case
15-
Wpu-N/
1-12
4

n.a.
postnatal
PBL
n.a. AS {1167} 1 case
15-
Wpu-N/
1-12
5 to 1-126

n.a.
postnatal
PBL
n.a. AS {1163} 2 cases
15-
Wpu-N/
1-12
7
n.a.
postnatal
PBL
n.a.
AS {1203} 1 case
15-
Wpu-N/
1-12
7
n.a.
prenatal
AF
n.a.
AS {1221} case 49
15-
Wpu-N/
1-12
8 to 1-155
n.a.
postnatal
PBL
n.a.
AS {1247} 28 cases
15-
Wpu-N/
1-156
to 1-186
n.a.
postnatal
PBL
n.a.
AS {1256} 30 cases
15-
Wpu-N/
 
1-187
n.a.
postnatal
PBL
n.a.
AS {1293} 1 case
15-
Wpu-N/
 
1-188
n.a.
postnatal
PBL
n.a.
AS {1302} 1 case
15-
Wpu-N/
 
1-189 to 196
n.a.
postnatal
PBL
n.a.
AS {1331} 8 cases
15-
Wpu-N/
 
1-197
n.a.
postnatal
PBL
n.a.
AS {1344} 1 case
15-
Wpu-N/
2-1 to 2-4

n.a.
n.a.
n.a.
n.a.
n.a.
{982}
15-
WpU-N/
3-1

n.a.
postnatal
PBL
46,XN, mother with 45,XX,t(14;15)(q10;q10)pat
AS
{1067}
15-
WpU-N/
4-1

female
2y
PBL
n.a.
iUPD

AS and AP4 deficiency
(gene AP4E1 in 15q21.2)

{1218}
15-
WpU-N/
5-1

male
see also
07-
WpU-N/
6-1

newborn
PBL
46,XY
UPD(15)pat; UPD(7) pat
AS and UPD(7)pat
{1356}
15-
WpU-N/
6-1

male
3y
PBL
46,XY AS and intellectual disability and early infantile epileptic encephalopathy
(gene HERC2 in
15q13.1 and gene AP3B2 in 15q25.2)
{1365}

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
15-
Wpu-N/
mos/
1-1

male
6y
PBL
46,XY
mosaic iUPD - as based on aCGH result (80% of PBL)

AS
Developmental verbal dyspraxia

{869} case 3
15-
Wpu-N/
mos/
1-2

female
~4y
PBL
46,XX
mosaic iUPD - as based on aCGH result (?% of PBL)

AS
{1079}
15-
WpU-N/
mos/
1-3

female
~3y
PBL
n.a.
mosaic UPD(15)pat

AS
{1089}


pat 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
15-
WpU-bal/
1-1
male
6.5y
PBL
45,XY,der(13;15)(q10;q10)
besides pat UPD 15 also pat UPD 13q14.3
AS
{357}
15-
WpU-bal/
1-2
female
12y
PBL
45,XX,der(13;15)(q10;q10)pat
AS
{527}
15-
WpU-bal/
1-3
male
5y
PBL
45,XY,der(13;15)(q10;q10)pat
AS
{0} case provided by Dipl.-Med. P Sitte-Zöllner, Apolda, Germany
15-
WpU-bal/
1-4
female
12y
PBL
45,XX,der(13;15)(q10;q10)pat
AS
{527}
15-
WpU-bal/
2-1
n.a.
postnatal
PBL
45,der(14;15)(q10;q10)pat
AS
{98} 1 case
15-
WpU-bal/
2-2
male
postnatal
PBL
45,XX,der(14;15)(q10;q10)pat
AS
{528} case 21 and {308}
15-
WpU-bal/
3-1
male
postnatal
PBL
45,XY,der(15;15)(q10;q10)dn
AS
{182}
15-
WpU-bal/
3-2
male
postnatal
PBL
45,XY,der(15;15)(q10;q10)
AS
{355}
15-
WpU-bal/
3-3 to 3- 4
n.a.
n.a.
n.a.
45,der(15;15)(q10;q10)
AS
{418} 2 cases
15-
WpU-bal/
3-5
male
postnatal
PBL
45,XY,der(15;15)(q10;q10)
AS
{419}
15-
WpU-bal/
3-6
male
newborn
PBL
45,XY,der(15;15)(q10;q10)
AS
{442}
15-
WpU-bal/
3-7 to 3-8
1 male and 1 female
n.a.
PBL
45,der(15;15)(q10;q10)
AS
{308} cases V28 and V89
15-
WpU-bal/
3-9

male
postnatal
PBL
45,XY,der(15;15)(q10;q10)
AS
{777}
15-
WpU-bal/
3-10 to 3-11
1 male and 1 female
postnatal
PBL
45,der(15;15)(q10;q10)
AS
{1141}
15-
WpU-bal/
3-12 to 3-13
  2 males
postnatal PBL
45,XY,der(15;15)(q10;q10)
AS
{1177}
15-
WpU-bal/
4-1
n.a.
postnatal
PBL
45,XX,t(6;15)(p25.3;q11.1)pat
AS
{412} 1 case
15-
WpU-bal/
5-1
male
29y
PBL
45,XY,t(8;15)(p23.3;q11)pat
AS
{413} 1 case


pat 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
15-
WpU-sSMC/
1-1
15-A-
q11/
1-1
male /
4y
PBL
47,XY,+inv dup(15)(q11)[60%]/
46,XY[40%]
n.a.
n.a.
AS
{23} case 1
{308}
15-
WpU-sSMC/
2-1
15-A-
q11/
1-2
male/
18m
PBL
47,XY,+mar[50]
inv dup(15)(q11)
FISH with D15S63; cen15
AS
{62; 63}
15-
WpU-sSMC/
3-1
15-A-
q11.2/
1-1
male/
prenatal
AF
culture 1: 47,XY,+mar[100]
culture 2: mar only in 32%
inv dup(15)(q11.2)
cenM; subcenM; UBE3A
AS
{791}
15-
WpU-sSMC/
4-1

15-A-
q11.1/
1-1

female/
postnatal

PBL
47,XX,+mar[100%]
inv dup(15)(q11.1)
cep
AS
{0} provided by Dr. Natiq, Rabat, Maroc
15-
WpU-sSMC/
4-2

15-A-
q11.1/
1-2

female/
1y

PBL
47,XX,+mar[100%]
inv dup(15)(q11.1)
acrocenM, subcenM
AS
{0} provided by Dr. Gödde, Germany
15-
WpU-sSMC/
4-3

15-A-
q11.1/
1-3

male/
7y

PBL
47,XY,+mar[100%]
inv dup(15)(q11.1)
subcenM
AS
{0} provided[nbsp] from Ecuador
15-
WpU-sSMC/
5-1

daughter of case 22-O-
q11.1/
1-67

female/
child

PBL
47,XX,+mar mat[100%]
UPD(15)pat

inv dup(22)(q11.1)
M-FISH
subcenM

AS
{952}


segmental pat UPD-cases with or unclear clinical correlation

case no.
gender
age at diagnosis
studied
material

GTG-banding result
grade of mosaicism

clinical symptoms
reference
15-
WpU-seg/
1-1
n.a.
postnatal
PBL
n.a.
---
exact localization or size not reported
atypical pontocerebellar hypoplasia
(gene
POLG in 15q26.1)
{1213} case N10

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
15-
WpU-seg/
q24.2/
mos/

1-1
n.a.
postnatal
PBL
n.a. - most likely 46,XN
---
in 34% of cells 15q24.2-qter
Moderate ID, speech delay, epilepsy, amblyopia,
enamel defects

{886}


pat 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
15-
WpU-imb/
1-1
n.a.
~2y
PBL
46,XN,del(11)(q21q22.3)
AS
{678}
15-
WpU-imb/
2-1

female
childhood
PBL
46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15
AS
{972}
15-
WpU-imb/
3-1

female
childhood
PBL
see below
AS with P450scc deficiency
(gene
CYP11A1 in 15q24.1)
{1069}
Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development 47,XXY segmental iUPD

mosaic cases
case no.
gender
age at diagnosis
studied
material

GTG-banding
result
grade of
mosaicism

clinical symptoms
reference
15-
WpU-imb/
mos/
1-1

- - - - - -