ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #15 -                                                 
ABNORMAL

Specific PATIENTINFORMATION for sSMC(15)
 
Cases without clinical findings
Similar imbalances – no sSMC
Cases with
clinical findings

Similar imbalances -
 no sSMC

sSMC
not well characterized

inv dup(15) + autism
inv dup(15) + seizures
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
der(15) + PWS
der(15) + AS
Cases with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER


References

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD (uniparental disomy) cases: UPD(15)mat UPD(15)pat UPD(15)mat or pat

Cases with clinical findings (W)

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
15-
W-

q11.1/
1-1
female/
6.5y
PBL
(EKF-
cellbank)

de novo
47,XX,+mar[13]/
46,XX[11]
r(15)(::p11.1→q11.1::) M-FISH;
cenM;
subcenM;
acro-cenM;
telomere probes
suspicion of Turner syndrome {184} case 15-1
15-
W-

q11.1/
2-1
female/
postnatal
PBL de novo 47,XX,+mar[70%]/
46,XX[30%]
inv dup(15)(pter→q11.1:
:q11.1
→p11.1::)
cenM;
subcenM
clinically abnormal, epilepsy and psychomotor DD {0} provided by Carme Fuster Barcelona, Spain
15-
W-

q11.1/
3-1
male/
1m
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.1) acrocenM;
subcenM; UPD-test
anal atresia, hypospadias, kidney dystrophy {0} provided by Dr. Mitulla, Suhl, Germany
15-
W-

q11.1/
3-2
male/
11y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(15)(q11.1)
aCGH: no euchromatin detceted
cep probes; subcenM
aCGH
dwarfism {0} provided by Dr. Küchler Essen, Germany
15-
W-

q11.1/
3-3
female/
9y
PBL de novo 47,XX,+mar[50%]/
46,XX[50%]
inv dup(15)(q11.1)
aCGH: no euchromatin detceted
midi, cep probes; aCGH MR {0}
15-
W-
q11.1/
3-4
female/
2y
PBL n.a. 47,XX,+mar[24]/
46,XX[6]
inv dup(15)(q11.1) cep probes and probe for 15q11.2 DD {369} case 3
15-
W-
q11.1/
4-1
female/
24y
PBL n.a. 47,XX,+mar[100%] der(15)(:q12→p11.1::p11.1→q12:) aCGH, SNRPN, cep
DD, seizures
{388} case 2
15-
W-

q11.1~
13/
1-1
see 15-P-q11.1~13/1-2
15-
W-

q11.2/
1-1
n.a./
postnatal
PBL de novo
47,+mar[70%]/
46[30%]
mar(15)(p?→q11.2)*
size ~0.3 MB
n.a.; subcenM; aCGH DD; walked at 19 months of age; mild DYS; small secundum atrial septal defect {243} case 15
15-
W-

q11.2/
2-1
male/
8y
PBL n.a. 47,XY,+mar[10]/
46,XY[40]
inv dup(15)(q11.2) cenM, subcenM DD {0} provided by Jasen Anderson, Brisbane, Australia
15-
W-

q11.2/
2-2
male/
postnatal
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q11.2)
FISH-data: RP11-307C10 at 20.6MB on sSMC
cenM, subcenM severe psychomotor delay, muscular hypotonia, exotropia {0} provided by Dr. I. Iourov, Moscow, Russian Federation
15-
W-

q11.2/
2-3 to 2-4
female/
postnatal
PBL de novo 47,XX,+mar[100%] inv dup(15)(q11.2) cenM, subcenM abnormal phenotype {297} cases 14 and 16
15-
W-
q11.2/
2-5
female/
14y
PBL n.a. 47,XX,+mar[100%] inv dup(15)(q11.2) ceps; subcenM dwarphism and lack of puberty {0} provided from Hungary
15-
W-

q11.2/
3-1
male/
postnatal
PBL n.a. 48,XY,+dic rx2[2]/
47,XY,+r[29]/
47,XY,+dic r[1]/
46,XY[3]
r(15)(p11.1q11.2)
FISH-data: RP11-307C10 at 20.6MB on sSMC
cep probes, subcenM short stature, nephropathy, high-arched palate {0} provided by Dr. I. Iourov, Moscow, Russian Federation
***
15-
W-

q11.2/
4-1
male/
6m
PBL de novo 47,XY,+mar[16]/
46,XY[13]
min(15)(pter→q11.2:)
FISH-data: break between SNRPN (22.8MB)[nbsp] and UBE3A (23.2 MB)
ccenM, subcenM,
SNRPN, UBE3A
muscular hypotonia walking with 25 months, delayed speach development, hypotonia disappeared {0} provided by Dr. Kunz, Berlin, Germany
15-
W-

q12/
1-1
male/
15y
PBL
(EKF-
cellbank)
de novo 47,XY,+mar [32] inv dup(15)(q12)
FISH-data: RP11-171C8 at 23.0MB
on sSMC
aCGH: 8,363-22,904 MB
M-FISH;
cenM;
subcenM; aCGH
psychomotor retardation; clinical signs like Martin-Bell syndrome; West-syndrome {0} provided by Dr. I. Bartels,
Göttingen, Germany
15-
W-

q12/
1-2
male/
2.4y
PBL de novo 47,XY,+mar[18]/
46,XY[2]
inv dup(15)(q1?2*) one FISH probe (D15Z1) see below {7} case 2
{184} case 15-2
born at term with cesarean section; weight 3570g; length 50cm; head circumference 38cm; tetralogy of Fallot; macrocephaly; hypertelorism; low-set ears; long philtrum; thin mucosal upper lip; upturned nose; median dimple of the nasal bridge, short neck; severe cong. hypothyroidism; mild mental retardation
15-
W-

q12/
1-3
female/
n.a.
n.a. maternal 47,XX,+mar [100%] inv dup(15)(q12)
FISH-data: SNRPN at 22.8MB on sSMC
cen probes
SNRPN
psychomotor retardation (?) {148}
case 11
15-
W-

q12/
1-4
male/
n.a.
n.a. n.a. 47,XY,+mar [100%] inv dup(15)(q12)
1 SNRPN signal on mar
FISH-data: SNRPN at 22.8MB on sSMC
cen probes
SNRPN
psychomotor retardation (?) {148}
case 22
15-
W-

q12/
1-5

male/
1y

PBL
n.a. 47,XY,+mar [100%] inv dup(15)(q12)
FISH-data:RP11-307C10 at 20.6MB on sSMC
cenM;
subcenM;
MCB
see below {0} provided by Dr. J. Vermeesch,
Leuven, Belgium
moderate DD without dysmorphic features with pervasive behavior problems which diminished but remained present at the age of five. At this age, verbal IQ was 2-2.5 years old.
15-
W-

q12/
1-6 to 1-9
2x male, 2x female/
postnatal
PBL de novo 47,+mar[100%] inv dup(15)(q12)
FISH-data: SNRPN at 22.8MB on sSMC
cep
SNRPN
abnormal phenotype {297} cases 11-13, 14
15-
W-

q12/
1-10
male/
10y
PBL de novo 47,XY,+mar[4]/
46,XY[10]
inv dup(15)(q12)
FISH-data: SNRPN at 22.8MB on sSMC
cep
SNRPN
abnormal phenotype {297} case 18
15-
W-

q12/
1-11
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(15)(q12)
FISH-data: SNRPN at 22.8MB on sSMC
cep
SNRPN, MLPA
IUGR {300} case 12
15-
W-

q12/
1-12
male/
9m
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q12) n.a. early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure {342}
15-
W-

q12/
2-1
male/
postnatal
PBL n.a. 47,XY,+mar [100%] min(15)(pter→q12:) n.a. psychomotor retardation (?) {285}
case 12
15-
W-

q12/
2-2
female/
10y
PBL de novo 47,XX,+mar [100%] min(15)(pter→q12:) n.a. abnormal phenotype {297}
case 19
15-
W-

q12/
3-1
n.a./
postnatal

PBL
n.a. 47,+mar[83%]/
46[17%]
r(15)(::p10→q12:
:q12
→p10::)*
distal clone in 15q RP11-30G8 (25.62 MB)
aCGH DD, multiple congenital abnormalities {215} case 10
15-
W-

q12/
4-1
male/
1y
PBL de novo 48,XY,+marx2[100%] inv dup(15)(q12)x2 FISH - cep probes see below {0}
Born at 38 weeks by Caesarian section (was in breech), weight 6lb 13.5 - apgar 9+9; sacral dimple; small VSD (healed by 6 months), global developmental delay, walked at age 3 years, growth fairly normal, height is 5ft 6ins at 18y, head circumference normal, mostly content and happy (although as he is getting older he gets more and more frustrated and cross), never cries, high pain threshold, seizures - absences and tonic clonics, seizure onset age was 9 years (all EEG’s normal), constant drooling, no speech but makes a consistent sound (annoying!), very flexible joints, short attention span, walks with an ataxic gait (feet turned inwards slightly), hypotonia, short sighted (-1.75), eczema, MRI scan at age 6 (2000) showed an abnormality on the white matter (inconclusive result -neurologist thought possible brain haemorrhage in-utero), cannot chew, has been hospitalised because of severe choking incident in 2008, fluoroscopy revealed he doesn’t chew; mild thoracic scoliosis. (data provided by his mother)
15-
W-

q12?/
1-1
n.a/
n.a.
PBL de novo n.a. inv dup(15)
(q11.2~13)
acro M MR; DYS {27} case 8
15-
W-

q12?/
1-2 to 1-5
female/
prenatal up to 7y
AF/PBL de novo 47,XX,+mar[100%] inv dup(15)
(q12 or 13)
all available centromeric probes; wcp 15 MR; DYS; DD {35} cases 23-26
15-
W-

q12?/
1-6 to 1-15
male/ female/
3y to 36y
PBL de novo 47,+mar[100%]
(case 34 in mosaic form, mar in 84%)
inv dup(15)
(q11.2~13)
all available centromeric probes, wcp 15 MR, DD {15} cases 34-43
15-
W-

q12?/
1-16 to 1-19
male/ female/
4y to 7y
PBL de novo 47,+mar[100%] inv dup(15)(q12~13)
FISH-data: GABR3 at 23.3MB on sSMC
cep 15, GABRB3, D15S11 MR; DD; seizures; downslating palpebral fissures. Epicantic folds, low-set ears, hypotonia (3/4 cases, each) {44} cases 1-4
15-W-
q12?/
1-20 to 1-22
male/
2y to 36y
PBL de novo 47,+inv dup(15)(q12~13)[100%] n.a. n.a. MR; cryptorchidism {53} 3 cases
15-
W-

q12?/
1-23 to 1-35
male/ female 6/7/
adult
PBL de novo 47,+mar[100%]
(case 4 mar in 80%)
inv dup(15)(q12~13) probes as specified in {57}; UPD-test MR; and DD and/or behavioral problems {57} cases 1-12; 14
15-
W-

q12?/
1-36 to 1-45
male/ female
5/5/
2y to 36y
PBL de novo 47,+mar[100%] inv dup(15)(q12~13) YAC probes as specified in {63}, micro satellite analysis; UPD-test MR, DD and/or behavioral problems {63} cases 1-10
15-
W-

q12?/
1-46
male/
13y
PBL de novo 47,+inv dup(15)(q12~13)[100%] n.a. n.a. MR; behavioral problems, seizures {119}
15-
W-

q12?/
1-47
male/
13y
PBL de novo 47,+mar[100%] inv dup(15)(q12~13);
1 PWS specific signal on mar only
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; micro satellite analysis; UPD-test MR, DD and/or behavioral problems {123} case B
{124}
15-
W-

q12?/
1-48 to 1-54
male or female/
(young) adults
PBL de novo 47,+mar[100%] inv dup(15)(q12) or (pter→q11::q13→pter) centromeric probe 15 and 6 single copy probes from 15q11 to 15q13; UPD-test MR of different degrees and in some cases dysmorphic features {47} cases GM06346; ID15-1; ID15-2; ID15-4; HS13; HS14, HS15
15-
W-

q12?/
1-55 to 1-62
male/ female
5/3/
~2y to 15y
PBL de novo 47,+inv dup(15)(q12)
or (pter→q11:
:q13→pter)[100%]
n.a. n.a. MR, DD and/or behavioral problems {55} cases 1-8
15-
W-
q12
?/
2-1
see 15-Ud-2
15-
W-

q13/
1-1 to
1-2
male/
3.5y or 6m
PBL de novo 47,XY,+mar[100%] inv dup(15)(q13);
2 PWS specific signals on mar
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; micro satellite analysis; UPD-test MR, DD and/or behavioral problems {123} cases A, D
15-
W-

q13/
1-3
male/
2.5y
PBL de novo 47,XY,+inv dup(15)(q13)[100%] n.a. n.a. MR {69}
15-
W-

q13/
1-4
female/
20m
PBL de novo 47,XX,+inv dup(15)(q13)[100%] n.a. n.a. DD {67}
15-
W-

q13/
1-5
female/
postnatal
PBL de novo 47,XX,+mar[100%] inv dup(15)(q13);
2 PWS specific signals on mar
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; micro satellite analysis; UPD-test MR, DD and/or behavioral problems {125} case HS15
15-
W-

q13/
1-6
male/
postnatal?
n.a. de novo 47,XY,+mar[100%] inv dup(15)(q13);
2 PWS specific signals on mar
FISH-data: SNRPN at 22.8MB on sSMC
cen probes and SNRPN MR (?) {148} case 26
15-
W-

q13/
1-7

n.a./
postnatal
PBL de novo 47,+mar[100%] inv dup(15)(q13);
2 PWS specific signals on mar
FISH-data: SNRPN at 22.8MB on sSMC
cen probes and SNRPN hypomelanosis of Ito having mental, psychomotor and speech retardation, hypotonia and behavioral problems {160}
15-
W-

q13/
1-8
male/
postnatal

PBL
de novo 47,XY,+mar[?%] inv dup(15)(q13)
2 PWS specific signals on mar
FISH-data: SNRPN at 22.8MB on sSMC
midi, subcenM; SNRPN Twin pregnancy; sSMC only in this twin and not in other, selective termination of this twin; co-twin was normal at birth {0} provided by Dr. N. Rubtsov, Novosibirsk, Russian Federation
15-
W-

q13/
1-9
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(15)(q13)
2 PWS specific signals on mar
FISH-data: D15s11 at 22.8MB on sSMC
centromeric probes; D15S11 nanism, short neck, intracranial hypertension, hyperactivity, mild MR, speech disturbance, mindless, irritability, cramps, permanent headache {180} case 1
15-
W-

q13/
1-10
n.a./
postnatal
PBL de novo 47,+mar[100%] inv dup(15)(q13)
distal clone in 15q RP11-360J18 (28.02MB)
aCGH abnormal {215} case 9
15-
W-

q13/
1-11
female/
7y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[25%]/
46,XX[75%]
inv dup(15)(q13)
FISH-data: SNRPN at 22.8MB on sSMC
acrocenM, subcenM, SNRPN MR; FRA-X suggested {0} provided by Drs. Wagner, Stibbe, Hannover, Germany
15-
W-

q13/
1-12 to 1-18
3x female; 5x male/
postnatal
PBL de novo 47,+mar[100%] inv dup(15)(q13)
FISH-data: SNRPN at 22.8MB on sSMC
cep 15 ; SNRPN abnormal/ MR {297} cases 1-6, 8-9
15-
W-

q13/
1-19
female/
11y
PBL de novo 47,XX,+mar[17]/
46,XX[32]
inv dup(15)(q13)
FISH-data: SNRPN at 22.8MB on sSMC
cep 15 ; SNRPN abnormal/ MR {297} case 7
15-
W-

q13/
1-20
female/
8y
PBL de novo 47,XX,+mar[48]/
46,XX[50]
inv dup(15)(q13)
FISH-data: SNRPN at 22.8MB on sSMC
cep 15 ; SNRPN abnormal/ MR {297} case 17
15-
W-

q13/
1-21
male/
postnatal
PBL de novo 47,XY,+mar[100%] inv dup(15)(q13)
array-data: 12MB involved
aCGH DD/ MR {308} 1 case
15-
W-
q13/
1-22 to 1-24
n.a./
postnatal
PBL n.a. 47,XN,+mar[?100%] inv dup(15)(q13) FISH DD/ MR {333} 3 cases
15-
W-

q13/
2-1
female/
3y
PBL de novo 48,XX,+marx2 2 x inv dup(15)(q13) cenM; subcenM, MCB; UPD-test see below {1} case 22
{2}
Anthropometric measurements at birth were within the normal range (length 50 cm, weight 3520 g, head circumference 34 cm). The girl had postaxial polydactyly of both hands and the right foot, a hemangiomas of the back (5x5cm) and muscular hypotonia. The heart showed patent ductus arteriousus and an open foramen ovale. Beginning with the age of 3 days the girl developed seizures, that are still difficult to cure. At the age of 3¼ years she presented with severe developmental delay and microcephaly {44 cm,-4 SD}. Height and weight were within the normal range for her age. In addition, she has strabismus, hyperopia and coxa vara on both sides. MRI scan of the scull revealed pachygyry.
15-
W-

q13/
2-2

female/
8m
PBL de novo 48,XX,+marx2 2 x inv dup(15)(q13)*
FISH-data: SNRPN at 22.8MB on sSMC
different FISH probes: (cep 15; wcp 15; SNRPN); UPD-test see below {14} case 2
severe psychomotor retardation, clefting of soft palate, hypotonia; seizures from 2m of age, brachycephaly, bitemporal narrowing, low-set ears, short neck, soft hands with brachydacyly, abnormal EEG, abnormal heart X-ray.
15-
W-

q13/
2-3
female/
prenatal
AF de novo 48,XX,+marx2 2 x inv dup(15)(q13)
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; micro satellite analysis; UPD-test severe psychomotoric retardation, Born with weight, lenght and OFC ~10. centile; mild cyanosis and hypotonia, abnormal ears, seizures, At 5m length and OFC ~3rd centile {123} case C
15-
W-

q13/
2-4
female/
1y
PBL de novo
48,XX,+marx2[23%]/
46,XX[77%]
2 x inv dup(15)(q13)
FISH-data: SNRPN at
22.8MB on sSMC
array-data: 0.00-26.34 MB
PWS-specific probes; subcenM, cep probes
aCGH
DD, MR; no malformations, seizures {0} provided by Dr. Dufke, Tübingen, Germany
15-
W-
q13/
2-5
female/
8m
PBL n.a. 49,XX,+marx3[83]/
48,XX,+marx2[7]/
46,XX[10]
2-3 x inv dup(15)(q13)
array-data: 0.00-29.07 MB
aCGH
FISH
cleft palate, extensive skin hyperpigmentation. Apgar scores 7 and 5 at one and five minutes {375} case 1
15-
W-
q13/
2-6
female/
3y
PBL n.a. 48,XX,+marx2[72]/
47,XX,+mar[28]
2-3 x inv dup(15)(q13)
array-data: 0.00-32.44 MB
aCGH
FISH
DD, growth retardation; extensive skin hyperpigmentation {375} case 2
15-
W-

q13/
3-1 to
3-2
female/
postnatal
PBL de novo 47,XX,+r[12 or 20]/
46,XX[18 or 10]
r(15)(::p1?→q13::)*
duplicated in a different degree in cen-near position
YAC probes specific for centromere-near 15q to 15q13, micro satellite analysis; UPD-test not nearer specified clinical symptoms in all cases {39} cases A15; A16
15-
W-

q13/
3-3
male/
5y
PBL maternal (mosaic in mother) 47,XY,+mar[100%] r(15)(::p13~12→q13::)
FISH-data: SNRPN at 22.8MB on sSMC
M-FISH, cenM, subcenM, SNRPN unspecific phenotype with moderate to severe MR. At 5 years IQ of 37. The parents are also mild MR {0} provided by Dr. J. Vermeesch, Leuven, Belgium
15-
W-

q13/
4-1
male/
4y
PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q11.1:
:q13
→pter)
FISH-data: UBE3A at 22.8MB on sSMC
aCGH: 18,432,558-26,208,646 MB
centromeric probes subcenM, PML, UBE3A;
aCGH
MR {320} case 14
15-
W-

q13/
5-1
female/
postnatal
PBL de novo 47,XX,+mar[100%] min(15)(pter→q13:)
FISH-data: SNRPN at 22.8MB on sSMC
centromeric probes subcenM
mild MR
{0} provided by Dr. I. Iourov, Moscow, Russian Federation
15-
W-

q13/
5-2
male/
8y
PBL n.a. 47,XY,+mar[100%] min(15)(pter→q13:)*
FISH-data: SNRPN and GABRB3 at 22.8MB on sSMC
centromeric probes SNRPN, GABRB3 DD, at 8y OFC below 56th centile; DYS, hyperactive, severe MR, seizures, autism {279}
15-
W-

q13/
5-3
male/
15y
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
min(15)(pter→q13:)* centromeric probes DD {288}
15-
W-

q13/
5-4
female/
10y
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
min(15)(pter→q13:)*
array-data: break ~26.0MB
aCGH DD, multiple anomalies as reported in ref. 302 {302}
15-
W-

q13/
6-1
female/
15y
PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13
→cen→q13:
:q13
→pter)
PWS-specific probes; MLPA; UPD-test DD, MR; IUGR, strabismus, mild hypotonia, seizures {299}
15-
W-

q13/
6-2
male/
10y
PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13
→cen→q13:
:q13→pter)
FISH DD, MR, DYS; seizures {165} case 1
15-
W-

q13/
6-3
male/
5y
PBL de novo 47,XX,+mar der(15)(pter→q13:
:q13
→cen→q13:
:q13→pter)
FISH DD, MR, DYS; seizures {165} case 2
15-
W-

q13/
6-4
female/
1y
PBL de novo 47,XX,+mar[100%] der(15)(pter→q13.1::q13.1→ q11.2::q11.2→ q13.1::q13.1→pter) aCGH; FISH DD, microcephaly, multiple hemangiomas, a cafe-au-lait mark, brachydactyly, metopic craniosynostosis
retromicrognathia
{374} case P5
15-
W-
q13.1/
1-1
n.a./
postnatal
PBL de novo 47,+mar[90%]/
46[10%]
min(15)(pter→q13.1:
:q11.2
→q13.1:)*
distal clone in 15q RP11-959E3 (25.95MB)
aCGH DD, lack of coordination {215} case 8
15-
W-

q13.1/
2-1
male/
9y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.1)
FISH-data: SNRPN at 22.8MB on sSMC
cenM, subcenM; BACs absence of language and absence of control of his sphincters. He is under anticomitial treatment {0} provided by Dr. Carme Fuster, Spain
15-
W-
q13.1/
2-2
female/
3y
PBL n.a. 47,XX,+mar[100%] inv dup(15)(q13.1)
aCGH - 26.7Mb
aCGH DD {366} case 1
15-
W-

q13.1/
3-1
male/
14y
PBL de novo 47,XY,+mar[41]/
46,XY[9]
trc(15)(pter→q13:
:q13
→q11.1:
:q11.1
→q13::q13→pter)
PWS-specific probes; MLPA; UPD-test DD, MR; IUGR, seizures {307}
15-
W-

q13.1/
4-1
male/
postnatal
PBL de novo 47,XY,+mar[100%] trp(15)(q11q13.1)
array-data: 12MB involved
aCGH DD/ MR {308} 1 case
15-
W-

q13.1/
5-1
male/
postnatal
PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.1)
cenM, subcenM; BACs, midi; aCGH at 14 years: severe psychomotor delay; Convulsions - daily; Frequent respiratory infections {0} provided by Joana Melo (Coimbra, Portugal)
15-
W-

q13.1/
5-2
female/
prenatal
AF de novo 48,XX,+2mar[30]/
47,XX,+mar[28]/
46,XX[7]
inv dup(15)(q13.1)
FISH-data: SNRPN at 22.8MB on sSMC
array: 0.00-28.969665
aCGH AMA, TOP
{396} case 7
15-
W-

q13.1/
5-3
female/
2y
PBL de novo 47,XX,+mar[17]/
46,XX[3]
inv dup(15)(q13.1)
array: 0.00-28.535051
aCGH; FISH
Strabismus, developmental delay, hypotension, sleep apnea syndrome, left upper arm hemangion, hip dysplasia, supravalvular tachicardia
{0} case from Germany
15-
W-

q13.1/
5-4
male/
5m
PBL n.a.
47,XY,+mar[100%] inv dup(15)(q13.1)
array: 0.00-28.513165
aCGH DD, DYS

{0} case from Germany
15-
W-

q13.1/
6-1
female/
25y
PBL n.a.
47,XX,+mar[100%]
min(15)(pter→q13.1:)
FISH-data: SNRPN at 22.8MB on sSMC
array: 0.00-28.969665
NGS seizures
{398} case W04210
15-
W-

q13.1/
7-1
female/
7y
PBL n.a.
47,XX,+mar[100%]
r(15)(q11.?1→q13.1:)
array: 20.150696-28.485691
aCGH, subcenM
DD {0} provided from Dortmund, Germany
15-
W-

q13.2/
1-1
male/
postnatal
PBL de novo 47,XY,+mar[?%]/
46,XY[?%]
inv dup(15)(q13.2)
FISH-data: SNRPN at 22.8MB on sSMC
cenM, subcenM; BACs MR mild , hypo- hyperpigmentation in skin {0} provided by Dr. Dilek Aktas, Ankara, Turkey
15-
W-

q13.2/
1-2
female/
7y
PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2)
FISH-data: SNRPN at 22.8MB on sSMC
in aCGH no euchromatin deteceted
cenM, subcenM; BACs psychomotor delay, ectoderm dysplasia {0} provided by Dr. Carme Fuster, Spain
15-
W-

q13.2/
1-3
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(15)(q13.2)
aCGH:
up to 31.49 MB - to q13.3
cenM, subcenM; BACs
aCGH
AMA, TOP {320} case 17
{0}
15-
W-

q13.2/
1-4
female/
10y
PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2)
array-data: pter to 28.24 MB
aCGH Psychomotor delay {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil
15-
W-

q13.2/
1-5
n.a./
postnatal
PBL de novo 47,XN+mar[100%] inv dup(15)(q13.2)
aCGH:
up to 30.32 (hg19)
aCGH n.a. {385} case 1
15-
W-

q13.2/
2-1
moved to 15-W-q13.2 + q13.2/2-1
15-
W-

q13.3/
1-1
female/
postnatal
PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.2~13.3)
FISH-data: SNRPN at 22.8MB on sSMC
array:
0.00-30.66MB
cenM, subcenM; BACs, midi
aCGH; UPD-test
at 18 years: psychomotor DD; speech problems; behavior alterations; aggressiveness; agitation {0} provided by Joana Melo[nbsp] (Coimbra, Portugal
15-
W-

q13.3/
1-2
female/
30y
PBL de novo 47,XX,+mar[100%] inv dup(15)(q13.3)
break around
27.4MB
SNRPN, UBE3A and MLPA; UPD-test at 30 years: autism, severe MR, seizures {282} case 1
15-
W-

q13.3/
1-3
n.a./
postnatal
PBL n.a. 47,XN,+mar[?%] inv dup(15)(q13.3)
+ dup(15)(q13.3q13.3)
aCGH DD
{331; 346}
15-
W-

q13.3/
2-1
see 15-U-23
15-
W-

q13.3/
3-1
male/
6y
PBL n.a. 47,XY,+mar[100%] inv dup(15)(q13.3)
break around 30.68MB
NGS seizures, DD {398} case 69813
15-
W-

q13.3/
4-1
n.a./
prenatal
AF de novo 47,XN,+mar[100%] inv dup(15)(q13.3)
break around 32,899,558
aCGH n.a. {400} case P1
15-
W-

q13.3/
5-1
n.a./
prenatal
AF de novo 47,XN,+mar[100%] inv dup(15)(q13.3)
break around 32,408,319
aCGH n.a. {400} case P2
15-
W-

q14/
1-1
male/
15y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q14) n.a.
Southern Blot
DD since 6m of age; epilepsy at 1y; speech delay at 15y plus MR {74}
15-
W-

q14/
1-2
male/
11y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q14)
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; micro satellite analysis; UPD-test DD plus MR; muscular hypotonia, seizures {123} case E
15-
W-

q14/
1-3
male/
10y
PBL de novo 47,XY,+mar[38]/
46,XY[12]
inv dup(15)(q14)
FISH-data: SNRPN at 22.8MB on sSMC
PWS-specific probes; P-specific probe micro satellite analysis see below {151}
severe psychomotor retardation; epilepsy, pigmentary dysplasia, born with left inguinal hernia and left knee dislocation; West syndrome at 8m; facial dysmorphism; muscular hypotonia, seizures; sensoneural deafness
15-
W-

q14/
1-4
n.a./
n.a.
PBL de novo 47,+mar[100%] inv dup(15)(q14)
FISH-data: SNRPN at 22.8MB on sSMC
cen probes and SNRPN hypomelanosis of Ito having mental, psychomotor and speech retardation, hypotonia and behavioral problems {160}
15-
W-

q14/
1-5
male/
15y
PBL de novo 47,XY,+mar[100%] inv dup(15)(q14) RFLP analysis; UPD-test see below {201}
normal at birth, at 6m birth head control was not complete, at 1 y epileptic attacks, at 15y brain computed tomography normal exept for slightly enlarged lateral cerbral fissures. extremeties rigid and flexed - not able to walk, delaed speech development.
15-
W-

q14/
1-6
female/
prenatal
AF de novo 47,XX,+mar[99%]/
46,XX[1%]
inv dup(15)(q14)
FISH-data:
pter to 28.4MB
acrocenM, subcenM, SNRPN amniocentesis due to ultrasound abnormalities; TOP, no further information available {298} case 6
15-
W-

q14/
1-7
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(15)(q14)
FISH-data: UBE3A at 23.2MB on sSMC
cenM, subcenM, D15Z1; UBE3A; PML AMA ultrasound was normal in week 28; TOP {0} provided by Dr. Snezana Brankovic, Belgrade, Serbia
15-
W-

q14/
2-1
female/
16m
PBL de novo
47,XX,+mar[44]/
46,XX[156]

r(15)(::p11.1→q14:
:q14
→p11.1::)
cep probes and locus specific probes as described in {204}; UPD-test see below {204}
Child born after a pregnancy complicated by decreased fetal movement. Birth weight 7 lbs 4 oz; colicky (8 months) and occasionally provoked herself to vomit. no seizures. At 16m developmental delay and dysmorphic features, weight 9.2 kg (8th centile), length 75.2 (14th centile), head circumference 46.1 cm (25-50th centile). Significant microstomia and micrognathia, prominent forehead without bossing, mild synophrys, medial eye brow flare on the left, bluish sclerae, almond-shaped eyes, broad nasal root, short nose, thin upper lip, and an overbite; two hyperpigmented maculae, left palm only 5.4 cm (30th centile). Neurologic exam revealed vocalization, but no words and generalized hypotonia.
15-
W-

q14/
2-2
female/
18y
PBL de novo 47,XX,+mar[82%]/
46,XX[12%]
r(15)(::p10→q14::)[4]/
r(15;15)(::p10
→q14:
:p10
→q14::)[6]
FISH-data: SNRPN at 22.8MB on sSMC
CGH, cenM, subcenM, SNRPN MR {0} provided by Dr. Tönnies Berlin, Germany
15-
W-

q14/
3-1
female/
postnatal
PBL de novo 48,XX,+2mar[29]/
47,XX,+mar[31]
inv dup(15)(q14)x2
FISH-data: UBE3A at 23.2MB on sSMC
CGH, FISH with wcp 15, UBE3A, PML MR {229}
15-
W-

q14/
4-1
see 15-Ud-5
15-
W-

q14/
5-1
see 15-Ud-6
15-
W-

q14/
6-1
female/
11y
PBL de novo 47,XX,+mar [12]/
46,XX[16]
min(15)(pter→q14) * n.a. abnormal phenotype {297}
case 20
15-
W-
q14/
7-1
see 15-Ud-7
15-
W-

q21/
1-1
male/
prenatal
AF n.a. 47,XY,+mar[100%] min(15)(pter→q21:)
FISH-data: UBE3A at 23.2MB on sSMC
cep probes, subcenM; UBE3A AMA, child died intrauterine in week 23 {0} provided by Dr. Hickmann, Düsseldorf, Germany
15-
W-
q21.1/
1-1
female/
1y
PBL n.a. 47,XX,+mar[100%] min(15)(pter→q21.1:) MCB; UPD test PWS like phenotype {0} provided from Armenia
15-
W-
q21.2/
1-1
female/
newborn
PBL de novo 47,XX,+mar[100%] min(15)(pter→q21.2:) SKY, BACs; UPD-test MR, dysmorphic features {292}
15-
W-
q21.3/
1-1
female/
prenatal
AF de novo 47,XX,+mar[100%] min(15)(pter→q21.3:)
aCGH-data: break in 53.87 Mb
ceps, SNRPN aCGH prenatally detected in twin pregnancy; TOP {0} provided by Dr. Manolakis, Athens, Greece
SPECIAL CASES - asymmetric inv dup(15) cases
15-
W-

q11.1+
q11.2/
1-1
female/
prenatal
AF n.a. 47,XX,+mar[100%] dic(15)(q11.1;
q11.1~11.2)[6]/
dic(15)(q11.1;q11.2)[9]
acrocenM, subcenM AMA, child died intrauterine at week 20 of gestation {298} case 7
15-
W-

q11.2-
q13/
1-1
n.a./
postnatal
PBL n.a. 47,+mar[100%] inv dup(15)(pter→q11.2:
:q13
→pter)
cep
SNRPN
Seizures, muscular hypotonia {0} provided by Dr.M. Volleth,
Magdeburg, Germany
15-
W-

q11.2-
q13.3/
1-1
female/
4y
PBL de novo 47,XX,+mar[?100%] inv dup(15)(pter→q11.2:
:q13.3
→pter)
aCGH
SNRPN
Seizures, DYS, DD, growth retardation
{387} case 2
15-
W-

q12
+15/
1-1
male/
7y
PBL de novo 48,XY,
+inv dup(15)(q15),
+inv dup(15)
(q12)[5]/
47,XY,+inv dup(15)
(q15)[13]/
46,XY[7]
n.a. n.a. Birth weight 2891g; alternating strabismus and maxillary overbite; hyperactive, severely retarded; EEG showed diffuse disturbance of cerebral function {13}
15-
W-

q11
~q13/
1-1
male/
19y
PBL de novo 49,XY,+mar,
+r,+min[3]/
47-48,XY,
+mar,+r
or min[47]/
47,XY[15]
see below cep 15;
p15(15p11)
yIR-39d(15q11.2)
P1(770C6)(15q112~12)
cos127(PWACR)
see below {113}
At birth weight at 3. centile; OFC and length not recorded; delayed psychomotor development, seizures between 14y and 17y of age; at 19y moderate mental retardation, brachycephaly, wide forehead, long face, scarce eyebrows, prominent nose with left deviation of septum, low-set cupped ears, molar hypoplasia, short philtrum, anterior cross bite, thick lower lip, micrognathia, high arched palate, short neck, widely spaced nipples, kyphoscoliosis, hyper extensible elbows, slender hands with wired fingers, calcaneovalgus deformity, gena recurvata
inv dup(15)(q1?3)[1]/r(15)(::q11.2
→q13: :q13→q11.2::)[10]/min(15)(pter→q11.1:)[10]/
min(15)(:q11.2
→q13:)[9]/min(15)(pter→q13::q13:)[5]/min(15)(pter→q13:)[5]/min(15)(pter→q12)[2]*
15-
W-

q13.1 +
q13.3/

1-1
see 15-P-q13.1 + q13.3/1-1
15-
W-

q13.2 +
q13.2/

1-1
male/
postnatal
PBL de novo 47,XY,+mar[100%] inv dup(15)(q13.2)
array-data: pter to 28.46 MB
2x on sSMC: pter to 28.17
1x on sSMC: 28.17 to 28.46
aCGH Psychomotor delay {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil
15-
W-

q13.3+
q13.2/

3-1
female/
postnatal
PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)
breaks 28.24 and 30.70 MB
aCGH abnormal phenotype; psychomotor delay
{0} provided by Dr. Maria Isabel Melaragno, Sao Paolo, Brazil
15-
W-

q13.3+
q13.2/
3-2
male/
newborn
PBL
buccal mucosa
de novo 47,XY,+mar[100%]
buccal mucosa mar in 12%
inv dup(15)(pter→q13.3:
:q13.2
→pter)
breaks 28.17 and 30.30 MB
aCGH, FISH; UPD-test abnormal phenotype; psychomotor delay; twin pregnancy, second twin without sSMC, but also DD {306}
15-
W-
q13.3+
q13.2
/
3-3 to 3-4
male/
newborn
PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks 27.90 and 30.25 MB
aCGH, FISH abnormal phenotype; psychomotor delay {368} case 1 and 2
15-
W-
q13.3+
q13.2
/
3-5
n.a./
postnatal
PBL de novo 47,XN,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks 31.18 and 32.86 MB (hg19)
aCGH, FISH abnormal phenotype; psychomotor delay {385} case 2
15-
W-
q13.3+
q13.2
/
3-6
n.a./
postnatal
PBL de novo 47,XN,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks 31.08 and 33.01 MB (hg19)
aCGH, FISH abnormal phenotype; psychomotor delay {385} case 5
15-
W-
q13.3+
q13.2
/
3-7
female/
43y
PBL de novo 47,XN,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks "10.3Mb" and "12.2Mb" (in euchromatin)
aCGH, FISH abnormal phenotype; psychomotor delay, seizures
{388} case 1
15-
W-
q13.3+
q13.2
/
3-8
male/
~1y
PBL de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks
30.34 and 32.18 Mb (hg19)
aCGH, MLPA
abnormal phenotype; DD, autism
{397}
15-
W-
q13.3+
q13.2
/
3-9
male/
prenatal
AF
de novo 47,XY,+mar[100%] inv dup(15)(pter→q13.3:
:q13.2
→pter)*
breaks
30.65 and 32.51 Mb (hg19)
aCGH
AMA, n.a.
{399}
15-
W-
q13.3+
q13.1/
1-1
female/
3y
PBL de novo 47,XX,+mar[100%] inv dup(15)(pter→q13.1:
:q13.3
→pter)
array-data: not given
aCGH
FISH; SNRPN
DD, MR; overactive, seizures from early teenage years; at 41y: adipositas, dwarphism {315}
15-
W-
q13.3+
q13.3
/
1-1
n.a./
postnatal
PBL de novo 47,XN,+mar[100%] inv dup(15)(pter→q13.3:
:q13.3
→pter)*
breaks 30.18 and 32.45 MB (hg19)
aCGH, FISH abnormal phenotype; psychomotor delay {385} case 3
15-
W-
q13.3+
q13.3
/
1-2
n.a./
postnatal
PBL de novo 47,XN,+mar[100%] inv dup(15)(pter→q13.3:
:q13.3
→pter)*
breaks 30.01 and 30.51 MB (hg19)
aCGH, FISH abnormal phenotype; psychomotor delay {385} case 4
15-
W-
q13.3+
q13.2+
q14/
1-1
see 15-Ud-3
15-
W-
q13.3+
q13.1/
1-1
see 15-Ud-4
15-
W-

div
1-44
male or female/
postnatal
PBL de novo
(exception cases A14; B10)

47,+idic(15)[100%]
(mosaic with normal cells in cases A2, A7, A28 (1 and 2 mar), A29, B3, B10 mother and in B9 2 mar),
inv dup(15); all cases have been shown to be non-symmetric derivative chromosomes YAC probes specific for centromere-near 15q to 15q13, micro satellite analysis; UPD-test not nearer specified clinical symptoms in all cases {39} all cases apart from A15 and A16; cases A2, A6, A28, B6 and B2 are described in {40} cases 3, 4, 1, 5, 2; A17 in {41}; 28 patients were studied in {198}
15-
W-

div
45-49
see 15-Cww-316 to 320
15-
W-
div
50
see 15-Ud-8
-
-
-
-
-
-
-
-
-



Cases with an inv dup(15) or mar(15) and autism
without listing extensive clinical details on the cases in this summary (Caw)

case no.
sSMC shape
Reference
15-
Caw-
1
1x inv dup {75}
15-
Caw-
2
1x "inv dup" {76} case J.C.
15-
Caw-
3
1x inv dup {78; 79} (with Angelman syndrome)
15-
Caw-
4 to 31
28x inv dup {80} 28 cases
15-
Caw-
32
1x inv dup {81}
15-
Caw-
33 to 34
2x inv dup {82} case JB = {101} case 1 = {102} case 4;
{82} case MB = {102} case 19
15-
Caw-
35 to 36
1x inv dup, 1x min {83} cases a and b
15-
Caw-
37
1x inv dup {85}
15-
Caw-
38
mar n.a.
15-
Caw-
39
1x inv dup {89}
15-
Caw-
40 to 45
6x inv dup {90} cases A-F; {120} cases B; C; D; F
15-
Caw-
46 to 47
2x inv dup {91}
{94}
15-
Caw-
48
1x inv dup (?) {105} case 8
15-
Caw-
49 to 51
3x inv dup {71} case 26
{154}
{156}
15-
Caw-
52
1x min (?) {169} case B
15-
Caw-
53 to 54
2x inv dup {196} 2 cases
15-
Caw-
55
1x inv dup
(EKF-
cellbank)

{0} 1 case provided by Dr. H. Nelle, Jena, Germany
no UPD 15. mar of maternal origin
15-
Caw-
56 to 59
4x inv dup {220}
{295}
{0} 1 case provided by Dr. Petersen, Athens, Greece
{309} case 1
15-
Caw-
60 to 81
22x inv dup {345} 22 cases
15-
Caw-
82 to 92
11x inv dup
{346} 11 cases
15-
Caw-
93
1x inv dup
aCGH, 28,723,545 hg19
{0} provided by Dr. Epplen, Recklinghausen, Germany
15-
Caw-
94
1x inv dup(15)(q12~13)
{381}
15-
Caw-
95 to 97
3x inv dup(15)(q13.3) prenatal
authors state for one case 'normal at birth' ...
{419} cases 6, 13, 20

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
15-Caw-
special
case 1
male/
1y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q11.2)
+
Necdin, Makorin, MAGEL2 and NECDIN encoding region and BACs for the SNURF SNRPN-UBE3A region duplicated on one 'normal' chromosome 15
centromeric probes;
SNRPN and other probes
see below {158}
behavioural problems at age 29 months. at 36 months, stereotypical play and using fewer than 6 words. At 48 months he met ADI/ADOS criteria for autistic disorder. Overall IQ (Stanford Binet) was 92, with relative strength in abstract/visual and quantitative reasoning, and weakness in verbal reasoning. The child is somewhat obese and has cupped pinna but is not otherwise noted to be dysmorphic.
15-Caw-
special
case 2
male/
6y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q14) centromeric probes;
D15Z1; SNRPN; D15S10; PML
DD,  microcephaly, autistic behavior {0} provided by A. Dufke,
Göttingen, Germany
15-Caw-
special
case 3
male/
8y
PBL de novo 47,XY,+mar[100%?] inv dup(15)(q13.1)
array: 0.00-25.93
MB
cenM, subcenM, midi; UPD-test, aCGH at 8 years: Severe psychomotor DD; speech problems, no control of sphincters, growth delay, autism and hyper-reactivity, frontal lobe epilepsy {0} provided by Joana Melo, Coimbra, Portugal
15-Caw-
special
case 4
female/
5y
PBL maternal 47,XX,+mar[100%] inv dup(15)(q13.1)
array: 0.00-25.93 MB
array mother: 0.00-25.93 MB
cenM, subcenM; aCGH MR; autism; hypotonia; speech problems; mother at 27 years: low IQ; learning disabilities {0} provided by Dr. I Marques Carreiras and J. Melo, Coimbra, Portugal

Cases with an inv dup(15) and seizures
without listing extensive clinical details on the cases in this summary (Csw)

case no.
sSMC shape
Reference
15-
Csw-
1 to 9
abnormal phenotype; 9x inv dup - q13 involved {187} 5 cases
{44} 4 cases
15-
Csw-
10 to 15
abnormal phenotype; 8x inv dup {135}
{189} 7 cases
15-
Csw-
16 to 23
abnormal phenotype; 8x inv dup - q13 involved {190}
{63} cases 1, 3, 4, 5, 6, 7, 8
15-
Csw-
24 to 25
abnormal phenotype; 2x inv dup {191} cases 3 and 7
15-
Csw-
26 to 29
abnormal phenotype; 4x inv dup - q13 involved {188} case 1449
{192}
{193} 2 cases
15-
Csw-
30 to 34
abnormal phenotype; 5x inv dup {194}
{195}
{196} 3 cases
15-
Csw-
35
abnormal phenotype; inv dup {119}
15-
Csw-
36
abnormal phenotype; inv dup {1} case 22, {2}
15-
Csw-
37
abnormal phenotype; inv dup {14} case 2
15-
Csw-
38 to 39
abnormal phenotype; 2x inv dup {123} case C, E
15-
Csw-

40 to 78
abnormal phenotype; 39x inv dup {151}
{113}
{305}
{327}
{370} 35 cases
15-
Csw-

79
abnormal phenotype; 1x inv dup {386} 1 case

W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

case no.
gender/
age at diagnosis

studied
material

de novo/
Inherited

GTG-banding and final FISH result test
methods

clinical symptoms
Reference
15-W-
IMB-
q11.1/
1-1 to
1-3
3 case with partial centromere-near trisomy 15q are summarized in {232}
See also {266}
{232}
15-W-
IMB-
q11.1/
1-4

1 case with partial centromere-near trisomy 15q
{88}
15-W-
IMB-
q11.1/
1-5
1 case with partial centromere-near trisomy 15q {231} case 12
15-W-
IMB-
q11.1/
1-6
1 case with partial centromere-near trisomy 15q {246} case G
15-W-
IMB-
q11.1/
1-7 to 1-20
13 cases with tandemduplications 15q11.2 to 15q13.1
- three cases inherited from mother
{355} cases 23-35
15-W-
IMB-
q13/
2-1-mult
cases with partial centromere-near tetraomy 15q {267}
-
-
-
-
-
-
-
-

W-cases with unclear/insufficient characterization of the sSMC (CW) 

case no.
gender/
age at diagnosis

studied
material

de novo/
inherited

GTG-banding result
grade of mosaicism

final result of the sSMC
test
methods

clinical symptoms
Reference
15-
CW-
1
female/
31y
PBL
cell line at ECACC DD1596
de novo 47,XX,+r[12]/
46,XX[18]
r(15).ish (SNRPNx1; GABRB3x2) cep 15; GABRB3, D15S11; SNRPN; micro satellite analysis; UPD-test early milestones normal, speech delayed, no recognizable word up to 7y, destructive behavior up to 5yheight <3rd centile, HC 10.-25. centile {40} case 6
15-
CW-
2
see 15-N-qt2?4/1-1
15-
CW-
3

see 15-Uc-3
15-
CW-
4
n.a./
postnatal

PBL
de novo 47,+mar[?%]/
46[?%]
inv dup(15)
SNRPN not present
cep15; wcp 15, SNRPN chorio-retinian and iris coloboma {211} case 2
15-
CW-
5

female/
6y

PBL
n.a. 47,XX,+mar[100?%] mar(15) M-FISH and wcp 15 see below {0} see below
ambiguous genitalia, bilateral ing. hernia, small uterus, fibrotic ovary, all hormones in female category
provided by
Dr. Hema Purandarey, Piramal Diagnostics, Center for Genetic Health Care, Mumbai with acknowledgement to Dr. Sonal R. Bakshi, Institute of Science, Nirma University, Ahmedabad
15-
CW-
6

female/
12y

PBL
n.a. 47,XX,+mar[100%] min(15) SKY short stature {311} case F0554133
15-
CW-
7

female/
12y

PBL
n.a. 47,XX,+r[100%] r(15) SKY n.a. {311} case F0621647

CW-cases without (listing of) extensive details on the cases (Cww)

case no.
sSMC shape
Reference
15-
Cww-
1
hydrocephalus; 1x inv dup {12} case 20
15-
Cww-
2 to 3
abnormal phenotype; 1x inv dup {32; 33; 34} case 6 = case 17 of {71}
{15} case 33
15-
Cww-
4
abnormal phenotype; mar not specified {43} case 2
15-
Cww-

5 to 6
abnormal phenotype; 2x inv dup {40} cases 7, 14 = {51} cases JC7; JC14
15-
Cww-
7 to 15
abnormal phenotype; 1 x r, 8 x inv dup
(MR 8x, intrauterine death 1x)
{48} 9 cases 
15-
Cww-

16 to 18
abnormal phenotype; 3x mar {28} cases 1-3
15-
Cww-

19 to 62
abnormal phenotype; 41x inv dup {50} 25 cases
{51} cases DL5, DL9
{65} cases 3
{70}
{71} cases 1/2/3/6/ 7/8/12/13/14/15/21/22/23/24/25;
{102} cases 20/--/8/ 5/ 9/10/--/12/13/ 14 / 1/--/ 19/ 4/--
{71} case 21 used as case 3 in {101}
15-
Cww-

63
abnormal phenotype; 1x inv dup - FAMILIAL !! {95}
15-
Cww-

64
abnormal phenotype; inv dup - FAMILIAL !!; mother normal, mosaic; SNRPN included! {203}
15-
Cww-

65 to 73
abnormal phenotype; 9x inv dup {97} cases 1 and 2
{99} cases 23 and 41
{102} cases 6, 7, 15, 18/{101} cases -, -, 3, -
{104}
15-
Cww-

74 to 77
abnormal phenotype; mar not specified {105} cases 3-6-7; 18
15-
Cww-

78 to 85
abnormal phenotype; 8x inv dup {114}
{126}
{132}
{133} cases 1-2; {223} case 3
{139} cases 1-3
15-
Cww-
86
abnormal phenotype; inv dup - q13 involved {106}
15-
Cww-

87 to 99
abnormal phenotype; 13x inv dup {137}
{141} cases 1-3
{142} case 1
{143} cases 1-4
15-
Cww-

100 to 102
abnormal phenotype; inv dup incl SNRPN, 3x inv dup {170}
{148}
{149}
15-
Cww-

103 to 104
abnormal phenotype; 2x inv dup {153}
{159}
15-
Cww-

105 to 106
moved to 15-W-q13/6-2 and 6-3 {165}
15-
Cww-

107 to 108
abnormal phenotype; double inv dups 2x {171}
15-
Cww-

109 to 111
abnormal phenotype; 3x inv dup {174}
{176}
15-
Cww-

112 to 119
abnormal phenotype; 2x inv dup x2, 6x mar {178} 8 cases
15-
Cww-

120 to 121
abnormal phenotype; 2x inv dup - q13 involved {182} one twin with mar - other not
{183} case 4
15-
Cww-
122

abnormal phenotype; inv dup
{196} 1 case
15-
Cww-

123 to 127
abnormal phenotype; inv dup - q13 involved {199} cases 5-9
15-
Cww-

128
abnormal phenotype; inv dup incl SNRPN
{0} provided by Dr. I. Iourov, Moscow, Russian Federation
15-
Cww-

129
abnormal phenotype; inv dup incl SNRPN
ECACC CI0001
{206} case 12
15-
Cww-
130
abnormal phenotype; inv dup excl. SNRPN {207} case 6
15-
Cww-

131 to 139
abnormal phenotype; 9x mar incl SNRPN {208} case 1
{209} cases 10, 14
{210} cases 1-5, 14
15-
Cww-

140 to 142
abnormal phenotype; 4 x inv dup {32; 33; 34} case 6
{33; 34} cases 12-13; {71} cases 18-19; {102} cases 2 and n.a.
15-
Cww-
143
abnormal phenotype; 1 x mar {43} case 1
15-
Cww-

144 to 145
abnormal phenotype; 2x inv dup {74}
{86}
15-
Cww-4
146
abnormal phenotype; 1x min {92}
15-
Cww-
147
abnormal phenotype; 1x inv dup incl SNRPN {0} provided by J Anderson, Brisbane, Australia
15-
Cww-
148
abnormal phenotype; 1x inv dup incl SNRPN aCGH: 0.00-26.01 MB
(EKF-cellbank)
{320} case 15, {326} case Si-2
15-
Cww-

149 to 166
? abnormal phenotype; 18 inv dup ? incl SNRPN {213} 18 cases - no details listed at all - maybe already mentioned on this page
15-
Cww-

167 to 173
abnormal phenotype; 7x inv dup incl SNRPN {217} case2
{226}
{235}
{237} 4 cases
15-
Cww-

174
abnormal phenotype, mar {255} 1 case
15-
Cww-

175
abnormal phenotype; 1 inv dup incl SNRPN {256} case 16
15-
Cww-
176
abnormal phenotype, mar {256} case 14
15-
Cww-

177 to 179
abnormal phenotype; 2 inv dup, 1 min {262} 2 cases
{264} 1 case
15-
Cww-

180
terminated, large inv dup {272} case 10
15-
Cww-
181
inv dup incl SNRPN {273} 1 case
15-
Cww-

182
abnormal phenotype; mar {275} 1 case
15-
Cww-

183
inv dup, abnormal phenotype incl SNRPN {277} case 12
15-
Cww-
184
inv dup incl SNRPN; MR; aCGH: 0.00-25.92 MB {0} provided by J Melo, Coimbra, Portugal
15-
Cww-
185
abnormal phenotype;  inv dup incl SNRPN {0} provided by Aqualab, Serbia
15-
Cww-
186
abnormal phenotype;  inv dup {280} 1 case
15-
Cww-

187 to 193
abnormal phenotype;  7x inv dup incl SNRPN {281} 3 cases
{284} 1 case i.e. monocygotic twins
{0} provided by Dr. Sagi, Jerusalem, Israel
{0} provided by Dr. Iourov, Moscow, Russia
{0} provided by Dr. Fuchs, Hamburg, Germany
15-
Cww-

194 to 198
abnormal phenotype;  5x inv dup {301} 5 cases
15-
Cww-

199 to 201
abnormal phenotype;  inv dup incl SNRPN {0}
{317}
{318}
15-
Cww-
202
abnormal phenotype;  inv dup {324} 10 cases
15-
Cww-

212 to 227
abnormal phenotype; 16x inv dup incl SNRPN {334}
{341} 15 cases
15-
Cww-
228
abnormal phenotype;  inv dup {343}
15-
Cww-
229
inv dup incl SNRPN (aCGH: pter-41.4 MB) {344} case CVS-3
15-
Cww-

230 to 235
abnormal phenotype; 6x inv dup incl SNRPN {346} 4 cases
{348} case
{353} case 1
15-
Cww-
236
abnormal phenotype; del(15)(q13) incl. SNRPN {353} case 2
15-
Cww-

237 to 291
abnormal phenotype; 55x  inv dup incl SNRPN {355} cases 1-22
357} 32 cases
{0} provided by Dr. Manolakis, Athens, Greece
15-
Cww-

292
abnormal phenotype;inv dup incl SNRPN
hg19: 0-32,928,033; no UPD(15)
{0} provided by Dr. Cramer, Essen
15-
Cww-

293 to 294
abnormal phenotype; inv dup incl SNRPN
hg19: 32.45 and 31.18/32.86
{361}
15-
Cww-

295
abnormal phenotype; mar(15) in >5% in PBL {0} provided by Dr. Manolakis, Athens, Greece
15-
Cww-

296 to 298
abnormal phenotype; 3x inv dup incl SNRPN {0} provided by Dr. Ruml, Serbia
{0} provided by Dr. Niemann, Hürth, Germany
{0} provided by Dr. Wafa, Tunesia
15-
Cww-
299
abnormal phenotype; inv dup incl SNRPN x2 autism and seizures {371}
15-
Cww-
300 to 315
abnormal phenotype; 16x inv dup incl SNRPN {0} provided from Brasil
{372}
{374} cases P2, P3, P4, P6
{0} provided from Serbia
{376} 8 cases
{377}
15-
Cww-
316 to 320
abnormal phenotype; 5x inv dup
{198} cases A33, B15, B16, B17 B18
15-
Cww-

321
inv dup incl SNRPN
hg19?: 0-32,509,897
{383} case 47/37
15-
Cww-

322 to 324
inv dup incl SNRPN
{398} cases 70532, 83411, 96862
15-
Cww-

325
most likely inv dup incl SNRPN; NIPT:
15q11.2-q13.3 (9.7 Mb)
{407} case 2