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
|
16-
O-
p11.2/
1-1
|
see
16-Uu-1 |
16-
O-
p11.2/
1-2 |
female/
adult |
PBL
(EKF-
cellbank) |
n.a. |
47,XX,+mar[33%]/
46,XX[67%] |
min(16)(:p11.2→q11.1:) |
cenM;
subcenM |
normal
woman, infertile |
{0} provided from Spain |
16-
O-
p11.2/
1-3 |
male/
prenatal |
AF, PBL;
bucal mucosa
|
de novo
|
47,XY,+mar[70%]/
46,XX[30%]
in PBL: 64%; in bucal mucosa: 45%
|
min(16)(:p11.2→q1?1.1:)
aCGH: 31.7-36.0Mb
|
aCGH, FISH
|
child born |
{76} |
16-
O-
p11.2/
1-4 |
female/
37y |
PBL
|
n.a.
|
47,XX,+mar[21]/
46,XX[9]
|
min(16)(:p11.2→q11.1:)
|
cenM,
subcenM
|
normal
woman, infertile |
{0}
provided from Germany
|
***
16-
O-
p11.2/
2-1
|
female/
prenatal |
AF, skin;
PBL, placenta |
de novo |
AF:
47,XX,+r[8]/
46,XX[9]
skin, 50% of sSMC; PBL: 3-5% of sSMC
in placenta 47,XX,+16 |
r(16)(:p11.2→q12.2:)
FISH-data: RP11-360L15 (28.86 MB) on
sSMC |
cenM,
subcenM; UPD-test |
see below |
{0} provided from USA |
sSMC
detected due to advanced maternal age;
Slowing of growth in the last weeks of
pregnancy and labor was induced at 37.5
weeks. Weight was 2.55 kg; length 46.5 cm;
scars at two sites on her left thigh from
the fetal skin biopsy; deep sacral dimple,
ultrasound of underlying structures was
normal. Neonatal course also was normal. At
7 months of age she sits with assistance and
is close to sitting alone. The remainder of
developmental assessment is also normal for
age. Normal at age of 4.5 y. |
16-
O-
p11.2/
3-1 |
female/
prenatal |
AF |
n.a. |
47,XX,+mar[22]/
46,XX[10] |
mar(16)(:p11.2→q1?1.2:)
aCGH: 31.68-34.85 MB |
aCGH |
sSMC
detected due to hygroma colli - normal child
born |
{62} case 16 |
16-
O-
p11.2/
3-2 |
female/
prenatal |
AF |
mat |
47,XX,+mar[50%]/
46,XX[50%] |
min(16)(:p11.2→q11.2:) |
cenM,
subcenM |
mother
normal |
{0} provided from Serbia |
***
16-O-
p11.2/
4-1 |
male/
prenatal |
AF |
mat |
47,XY,+mar[60%]/
46,XY[40%] |
mar(16)(:p11.2→q12.1:)
aCGH(hg19): 28,825,250–46,356,412 |
aCGH |
AMA?; mother
normal |
{71} case P7 |
16-
O-
p11.2/
5-1 |
male/
44y |
PBL |
n.a. |
47,XY,+mar[50%]/
46,XY[50%] |
r(16)(:p11.2→q12.1:) |
cenM,
subcenM |
transsexuality |
{0} provided from Germany |
16-
O-
p11.2
~11.1/
1-1 |
male/
prenatal |
AF;
PBL;
Chord
fibroblasts |
de novo |
47,XY,+mar[~50%]/
46,XY[~50%]
(mar in 75% of PBL and 30% of studied
fibroblasts; repeat in blood: 64%) |
dic r(16)(wcp16+,
cos11+, cos13+,c3296+, D16z2++,D16Z3+)
r(16)(::p11.2~11.1→q11.2:
:q11.2→p11.1::) |
specific
FISH probes: wcp16; and mentioned probes |
AMA; no
ultrasound abnormalities; child born without
clinical symptom and healthy at 10m and 2y
of age. |
{5}
{19} case 4 |
16-
O-
p11.1/
1-1 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[16]/
46,XY[13] |
min(16)(:p11.1→q11.2:) |
cenM;
subcenM; UPD-test |
AMA; no
ultrasound abnormalities; child born without
clinical symptom |
{1} case 24 |
16-
O-
p11.1/
1-2 |
male, twins/
prenatal |
AF |
de novo |
mosaic -
e.g. in one twin: 48,XY,+2mar[9]/
47,XY,+mar[14]/
46,XY[14] |
min(16)(:p11.1→q11.2:) |
cenM; subcenM; UPD-test
microsatellites
tested for UPD: D16S2616, D16S769,
D16S2624, D16S0539, D16S2621 |
AMA, twin
pregnancy, both twins with marker. Both
children normal at birth and at 4 months |
{0} provided from Germany |
16-
O-
p11.1/
1-3 |
see
16-O-p11.1/4-4 |
16-
O-
p11.1/
1-4 |
female/
35y |
PBL |
n.a. |
47,XX,+mar[7]/
46,XX[3] |
min(16)(:p11.1→q11.2:)
in aCGH no euchromatin deteceted |
cenM;
subcenM
aCGH |
normal
female, prior to ICSI |
{68} case 16-1 |
16-
O-
p11.1/
1-5 |
n.a./
prenatal |
AF |
n.a. |
47,+mar[87]/
46[13] |
min(16)(:p11.1→q11.2:) |
cenM;
subcenM |
healthy
child born |
{0} |
16-
O-
p11.1/
1-6 |
female/
prenatal |
AF |
n.a. |
47,XX,+mar[100%] |
min(16)(:p11.1→q1?1.2:)
in aCGH practically no euchromatin
deteceted: 34.47-35,01 MB |
aCGH |
normal |
{62} case 15 |
16-
O-
p11.1/
1-7 |
male/
4y |
PBL |
mat |
47,XY,+mar[10]/
46,XY[5] |
min(16)(:p11.1→q11.2:)
in aCGH practically no euchromatin
deteceted: 34.2-47,3 MB [hg19] |
subcenM
aCGH |
speech
delay; normal mother |
{0} provided from Germany |
16-
O-
p11.1/
1-8 |
female/
prenatal |
AF |
de novo |
47,XX,+mar[75%]/
46,XX[25%] |
min(16)(:p11.1→q11.2:) |
subcenM
aCGH |
AMA normal
child born |
{0} |
16-
O-
p11.1/
1-9 |
female/
adult |
PBL |
n.a. |
47,XX,+mar[20%]/
46,XX[80%] |
min(16)(:p11.1→q11.2:) |
cenM;
subcenM |
normal but
repeated abortions |
{0} |
16-
O-
p11.1/
2-1 |
female/
adult |
PBL |
n.a. |
47,XX+mar[73%]/
46,XX[27%] |
r(16)(:p?11.1→q?12.1:)* |
radioactive
ISH; satellite II probe for chr.16 |
Marker
present as well in one healthy daughter and
one mentally and physically retarded and
son. |
{3} mother is mentioned
for case 3 |
16-
O-
p11.1/
2-2 |
female/
29y
|
PBL |
n.a. |
47,XX+mar[12]/
46,XX[10] |
r(16)(:p?11.1→q?12.1:)* |
subcenM
RP11-408D2-,D16Z2+,
D16Z3+,RP11-474B12+ |
normal,
infertile
|
{0} provided
from Germany
|
16-
O-
p11.1/
3-1 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[20%]/
46,XY[80%] |
dic(16;16)(:p11.1→q11.2:
:q11.2→p11.1:) |
cenM;
subcenM; UPD-test |
Marker
detected prenatally; normal child was born |
{0} provided from
Taiwan |
***
16-
O-
p11.1/
4-1 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[25]/
46,XY[28] |
min(16)(:p11.1→q12.1:)
FISH-data: RP11-474B12 (45.87-46.02) on
sSMC |
M-FISH;
subcenM; UPD-test
microsatellites
tested for UPD 16S520; D16S3068; D16S423 |
AMA; normal
child was born birth weight 2970g; length
52cm; walking with 10.5months; minor
aberrations: incomplete simian crease at one
hand and sacral porus |
{0} provided from Germany |
16-
O-
p11.1/
4-2 |
male/
adult |
PBL
(EKF-
cellbank) |
n.a. |
47,XY,+r[?%] |
min(16)(:p11.1→q12.1:) |
cenM;
subcenM |
Marker
detected in normal male, cytogenetics due to
abnormal baby with del(2) |
{27} case 9; {32} |
16-
O-
p11.1/
4-3 |
male/
prenatal |
AF/ CH |
n.a. |
chorion:
47,XY,+mar[2]/46,XY[1], amnion: mar in 3/15
metaphases |
min(16)(:p11.1→q12.1:)
array-CGH - euchromatic size 366.3 kb in
16q; RP11-627O2 (45.38-45.60MB),
RP11-825K2 (45.36-45.90MB), RP11-719K16
(45.47-45.89MB) |
cenM;
subcenM; aCGH |
AMA; normal
child at 7 months |
{0} provided from USA |
***
16-
O-
p11.1/
4-4 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[100%] |
min(16)(:p11.21→q12.1:)
FISH-data: RP11-474B12 (45.87-46.02) on
sSMC
array: 31.43-45.76 MB |
centromeric
probes; subcenM; array-CGH; UPD-test
microsatellites tested for UPD:
D16S2616, D16S748, D16S403, D16S769, D16S402 |
AMA. At
birth weight 4,055 gr. length 54 cm and OFC
37.5 cm. At 1 y phenotypically and
neurologically normal |
{0}
{43} |
16-
O-
p11.1/
4-5 |
n.a./
prenatal |
AF |
maternal
(mother 50%) |
47,XN,+mar[20%]/
46,XN[80%] |
min(16)(:p11.1→q12.1:)
in aCGH no euchromatin deteceted |
cenM,
subcenM |
twin
pregnancy; mother normal; sSMC only in one
twin |
{0} provided from Israel |
16-
O-
p11.1/
4-6 |
female/
adult |
PBL |
n.a. |
47,XX,+mar[30-40%]/
46,XX[60-70%] |
min(16)(:p11.1→q12.1:) |
cenM;
subcenM; UPD-test |
AMA, normal
baby born |
{0} provided from Greece |
16-
O-
p11.1/
4-7 |
male/
44y |
PBL |
n.a. |
47,XY,+mar[9]/
46,XY[21] |
r(16)(::p11.1→q12.1::) |
cenM;
subcenM |
normal male,
infertiity |
{68} case 16-2 |
16-
O-
p11.1/
4-8 |
female/
adult
|
PBL |
n.a. |
47,XX,+mar[6]/
46,XX[24] |
min(16)(:p11.1→q12.1:) |
cenM;
subcenM |
normal male,
infertiity |
{0}
provided from Spain
|
16-
O-
p11.1/
5-1 |
female/
37y |
PBL
cell line at
ECACC DD0375 |
de novo |
47,XX,+mar[28]/
46,XX[22] |
min(16)(:p11.1→q11.1:) |
all
available centromeric probes; cenM, subcenM,
midi; UPD-test |
clinically
normal; son with same marker; mar discovered
in amniocentesis due to AMA; baby normal at
4m |
{2} case 17
{9} case 23
{25} case 7 |
16-
O-
p11.1/
5-2 |
female/
adult |
PBL |
n.a. |
47,XX,+mar[80%]/
46,XX[20%] |
min(16)(:p11.1→q11.1:) |
cenM;
subcenM |
clinically
normal; daughter with same marker; mar in
same percentage; discovered in amniocentesis
due to AMA; no info available on daughter |
{0} provided from Germany |
16-
O-
p11.1/
5-3 |
female/
prenatal |
AF |
paternal
(mar in 4-10% of PBL) |
47,XX,+mar[90-97%]/
46,XX[10-3%] |
min(16)(:p11.1→q11.1:)* |
M-FISH; all
cep, 16q11.2 probe; CGH |
AMA; father normal |
{50} case 2 |
16-
O-
p11.1/
5-4 |
female/
31y |
PBL
(EKF-
cellbank) |
n.a. |
47,XX,+mar[100%] |
min(16)(:p11.1→q11.1:) |
cenM;
subcenM |
no abnormal
phenotype; 6 years infertility, 3 x
inseminations failed |
{0} provided from Spain |
16-
O-
p11.1/
6-1 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[?%]/
46,XY[?%] |
r(16)(:p11.1→q11.1:) |
subcenM;
UPD-test |
AMA; healthy
child born |
{0} provided from USA |
16-
O-
p11.1/
6-2 |
female/
prenatal |
AF |
de novo |
47,XX,+mar[100%] |
r(16)(:p11.1→q11.1:) |
pericentric
BAC probe set |
amniocentesis
due to ?; child normal |
{65} case 14 |
16-
O-
p11.1/
7-1 |
male/
adult |
PBL
(EKF-
cellbank) |
n.a. |
47,XY,+mar[8]/
46,XY[42] |
min(16)(:p11.1→q11.1~11.2:) |
cenM;
subcenM |
normal male, infertile |
{0} provided from Spain |
***
16-
O-
p10/
1-1 |
female/
25y |
PBL |
n.a. |
47,XX,+mar[15]/
46,XX[3] |
min(16)(:p10→q12.1:)[80%]/
min(16)(q12.1→p10:
:p10→q12.1:)[20%]
FISH-data: RP11-474B12 (45.87-46.02) on
sSMC |
cenM;
subcenM |
normal but
daughter with sSMC and Rett syndrome (mol.
confirmed) |
{0} provided from Germany |
|
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
|
16-
CO-
1 |
female/
prenatal |
AF
PBL |
de novo |
47,XX+mar[20%]/
46,XX[80%]
(postnatal mar in 16% of PBL) |
ish dic(16)
(D16Z2++,wcp16+) |
cep for 1,
6, 9, 1/5/19, 13/21, 14/22, 15, 16; wcp 16 |
AMA; no
ultrasound abnormalities; child born without
clinical symptom and healthy at 9m of age. |
{6} |
16-
CO-
2 |
male/
prenatal |
AF |
maternal
(no info on
mosaic status) |
47,XY,+mar[21]/
46,XY[14] |
ish mar(16)(D16Z1+) |
FISH with
all available centromeric probes |
Amniocentesis
due to abnormal serum biochemistry; normal
at 14m; mother clinically normal |
{8} case 16 |
16-
CO-
3 |
female/
24y |
PBL/
fibroblasts |
paternal |
47,XX,+mar[1761]/
46,XX[239]
(in 915/1000 fibroblasts) |
ish mar(16)(D16Z1+) |
FISH with
all available centromeric probes |
normal
phenotype - mar present in sister as well |
{11} case 1 |
16-
CO-
4 |
male/
42y |
PBL |
de novo? |
47,XY,+mar[60]/
46,XY[40] |
r(16) |
SKY; cep 16 |
repeated
abortions (?) |
{16} case 11
{42} case 93
{68} case 16-3 |
16-
CO-
5 |
female/
18m |
PBL |
de novo |
47,XX,+mar[?100%] |
ish
der(16)(wcp16+,cos97+,cos33+,
cos11+,D16Z2+,D16Z3-), cosmids in
16p11.2 |
wcp16,
cos97, cos33, cos11, D16Z2, D16Z3 |
normal
phenotype, apart from being an extra digit
on left hand, extra digit attached to left
hand by a piece of skin with no bone but a
small nail |
{0} case provided by
UNIQUE |
16-
CO-
6 |
n.a./
prenatal |
AF |
de novo |
47,+mar[43%]/
46,XY[57] |
mar(16)
(wcp+, cep+) |
wcp; cep 16 |
normal child
born and normal at 11 months |
{52}
{67} case 17 |
16-
CO-
7 |
female/
33y |
PBL |
n.a. |
47,XX,+r[100%] |
r(16) |
SKY |
normal
woman, repeated abortions |
{61} case F047204
{68} case 16-4 |
16-
CO-
8 |
male/
prenatal |
AF |
de novo |
47,XY,+mar[100%] |
mar(16)
(cep+, wcp-)
in aCGH no euchromatin |
wcp, cep,
aCGH |
normal child
born |
{0} |
16-
CO-
9 |
n.a./
adult |
PBL |
n.a. |
47,XN,+mar[?%] |
r(16) |
cep
|
normal,
infertile
|
{78} 1 case
|
|