ChromosOmics - Database


Icon by Leon Liehr             

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

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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
 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
15-
OmU-seg/
q21.3/
2-1
 n.a.
 		postnatal
 PBL
 46,XN
---
15q21.3 to 15qter		 recurrent pregnancy loss {1604} case 3 in App. 4


mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 clinical symptoms
 reference
15-
OpU-imb/
1-1
 - - - - - -

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
Ref 1553 states that cases without AS-causative deletion (incl. UDP cses) are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Also confirmed by {1565}
 
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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/
1-124
n.a.
 postnatal
 PBL
 n.a. AS {1167} 1 case
15-
Wpu-N/
1-125 to 1-126
n.a.
 postnatal
 PBL
 n.a. AS {1163} 2 cases
15-
Wpu-N/
1-127 		n.a.
 postnatal
 PBL
 n.a.
 AS {1203} 1 case
15-
Wpu-N/
1-128 		n.a.
 prenatal
 AF
 n.a.
 AS {1221} case 49
15-
Wpu-N/
1-129 to 1-156 		n.a.
 postnatal
 PBL
 n.a.
 AS {1247} 28 cases
15-
Wpu-N/
1-157 to 1-187 		n.a.
 postnatal
 PBL
 n.a.
 AS {1256} 30 cases
15-
Wpu-N/
  1-188 		n.a.
 postnatal
 PBL
 n.a.
 AS {1293} 1 case
15-
Wpu-N/
  1-189 		n.a.
 postnatal
 PBL
 n.a.
 AS {1302} 1 case
15-
Wpu-N/
  1-190 to 197 		n.a.
 postnatal
 PBL
 n.a.
 AS {1331} 8 cases
15-
Wpu-N/
  1-198 		n.a.
 postnatal
 PBL
 n.a.
 AS {1344} 1 case
15-
Wpu-N/
  1-199 to 1-202 		n.a.
 postnatal
 PBL n.a.
UPD or IC-defect
 		AS
 {1437} 4 cases*
*authors do not distinguish IC-mutation- from UPD-cases
from literatue it is suggestedthat both groups provide ~same percentage - so ~50% of 7 cases are suggested ot be UPD(15)pat cases.
15-
Wpu-N/
  1-203 to 1-205 		n.a.
 postnatal
 PBL n.a.
 		AS
 {1567} 3 cases
15-
Wpu-N/
  1-206 		n.a.
 postnatal
 PBL n.a.
 		AS
 {1461} 1 case
15-
Wpu-N/
  1-207 to 1-209 		n.a.
 postnatal
 PBL n.a.
 		AS
 {1462} 3 cases
15-
Wpu-N/
  1-210 to 1-222 		n.a.
 postnatal
 PBL n.a.
 		AS
 {1514} 13 cases
15-
Wpu-N/
  1-223 to 1-251 		n.a.
 postnatal
 PBL n.a.
 		AS
 {1553} 29 cases
15-
Wpu-N/
  1-252 to 1-254 		male 2x
female 1x
 		postnatal
 PBL n.a.
 		AS
 {1553} 3 cases
15-
Wpu-N/
  1-255 to 1-278 		n.a. postnatal
 PBL
 n.a.
UPD or IC-defect 		AS
 {1566} est. 24 cases*
*authors do not distinguish IC-mutation- from UPD-cases
from literatue it is suggestedthat both groups provide ~same percentage - so 50% of 48 cases are suggested ot be UPD(15)pat cases.
15-
Wpu-N/
  1-279 to 1-263 		n.a.
 		postnatal
 PBL n.a.
 		AS
 {1569} 5 cases
15-
Wpu-N/
  1-264 to 1-265 		n.a.
 		postnatal
 PBL n.a.
 		AS
 {1603} cases 13 and 14
15-
Wpu-N/
  1-265 to 1-271 		n.a.
 		postnatal
 PBL n.a.
 		AS
 {1605} 6 cases
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}
15-
WpU-N/
7-1
 male
 2y
 PBL
 n.a. AS and
congenital hypothyroidism (gene DUOX2 in 15q21.1)
 {1399} case TOKAI-IRUD-1290

mosaic cases
case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding
result
 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}
15-
WpU-N/
mos/
1-4
 n.a.
 6y
 PBL
 n.a.
mosaic UPD(15)pat
 AS
 {1390}


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

case no.
 gender
 age at diagnosis
 studied
material
 GTG-banding result
 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
 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
 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
 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
 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
 clinical symptoms
 reference
15-
WpU-imb/
mos/
1-1
 n.a. prenatal AF mos upd(15)(q22.2q26.3)pat acc. to SNP-aCGH - no detailed data
 n.a. {1486} case 23
15-
WpU-imb/
mos/
2-1
 male 6y PBL mos upd(15)
no percentage available
must have been 47,XY,+15 originally
 AS {1566}
 {1565} 1 case