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)(::p11.1q11.1::) 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)(pterq11.1:
: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)(pterq11.2:)
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)(pterq12:) n.a. psychomotor retardation (?) {285}
case 12
15-
W-

q12/
2-2
female/
10y
PBL de novo 47,XX,+mar [100%] min(15)(pterq12:) 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)(::p10q12:
: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 (pterq11::q13pter) 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)(::p13~12q13::)
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)(pterq11.1:
: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)(pterq13:)
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)(pterq13:)*
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)(pterq13:)* centromeric probes DD {288}
15-
W-

q13/
5-4
female/
10y
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
min(15)(pterq13:)*
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)(pterq13:
:q13
cenq13:
: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)(pterq13:
:q13
cenq13:
: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)(pterq13:
:q13
cenq13:
: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)(pterq13.1::q13.1 q11.2::q11.2 q13.1::q13.1pter) 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)(pterq13.1:
: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)(pterq13:
:q13
q11.1:
:q11.1
q13::q13pter)
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)(pterq13.1:)
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.