ChromosOmics - Database

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                                                  -  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 from 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 from 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 from 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 from 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 from Russia
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 from Russia
***
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 from 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 from 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 from 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 from Russia
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 from 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 from 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 from 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 from Russia
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 from 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 from 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} provided 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} provided 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 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 from 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 from 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 from 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 from 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 30.68 MB		 NGS seizures, DD {398} case 69813
15-
W-
q13.3/
3-2		 male/
10y		 PBL n.a. 47,XY,+mar[53]/
46,XY[10]		 inv dup(15)(q13.3)
break around
32,17 MB		 aCGH subcenM SNRPN
 DD, DYS
 {0} provided from Germany
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 from 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 from 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 from 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 from 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 from 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 from Brazil
15-
W-
q13.2 +
q13.3/
2-1		 n.a./
postnatal		 PBL de novo 47,XN,+mar[100%] inv dup(15)(q13.2;q13.3)
seq[GRCh38] :15q11.1q13.2(19799420_30095350x3-4)
15q13.2q13.3(30521460_32201830x2-3)   
CMA Psychomotor delay {420} case P2
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 from 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
15-
W-
div
51 		male/
12y		 PBL
skin
 n.a.
 47,XY,+mar/
46,XY
different mosaics in blood and skin
 (inv dup(15)?)
arr[GRCh37]
15q11.1q11.2(20,394,272-22,759,378) x3,
15q11.2q13.2(22,759,378-30,509,325)x4,
15q13.2q13.3(30,509,325-32,706,883)x3
 aCGH
 DD, DYS
skin pigmentary mosaicism 		{421} case



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 providedfrom Germany
no UPD 15. mar of maternal origin
15-
Caw-
56 to 59
 4x inv dup {220}
{295}
{0} 1 case provided from 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 from 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 from 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 from 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 from 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 from Russia
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 from 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 from Portugal
15-
Cww-
185
 abnormal phenotype;  inv dup incl SNRPN {0} provided from 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 from Israel
{0} provided from Russia
{0} provided from 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 from Greece
15-
Cww-
 292 		abnormal phenotype;inv dup incl SNRPN
hg19: 0-32,928,033; no UPD(15) 		{0} provided from Germany
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 from Greece
15-
Cww-
 296 to 298 		abnormal phenotype; 3x inv dup incl SNRPN {0} provided from Serbia
{0} provided from Germany
{0} provided from 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