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
|
09-
U-
1 |
see
mult 2-6 |
09-
U-
2 |
see
mult 2-7 |
09-
U-
3 |
n.a./
n.a. |
PBL |
de
novo |
n.a.
if extra chromosome!! |
r(9)(::p23→q12?::) |
acro
M; M-FISH |
DYS;
MR; no speech development |
{9} case
12 |
09-
U-
4
|
female/
1w |
PBL |
de
novo |
47,XX,+9[?]/
47,XX,+mar[?]/
46,XX[?] |
min(9)(:p13→q10:) |
radioactive
ISH: specific probe for 9p13 |
see
below |
{12} |
decrease
fetal activity from 6th month; birth
weight: 1600g, length: 43cm; HC: ~30cm;
Apgar score 10/10; dysmorphic features
like narrow forehead, large and hooked
nose, micrognathia, hypoplastic nipples,
right lower limb hypotrophic and reduced
in diameter; follow-up possible up to 3y. |
09-
U-
5 |
see
+0Xm-09-1 |
{1} case
15
{27} |
09-
U-
5a |
see
+0Xm-09-2 |
{103} |
09-
U-
6 |
n.a./
n.a. |
n.a. |
n.a. |
n.a. |
r(9) |
n.a. |
n.a. |
{15} |
09-
U-
7 |
male/
prenatal |
AF |
maternal
(34y old -
mar once in 65%) |
48,XY,+marx2[100%] |
r(9)(D9Z3+, D9Z5+, wcp9-) |
different
FISH-probes |
AMA;
no additional info available |
{13} |
09-
U-
8 |
n.a./
n.a. |
n.a. |
n.a. |
47,+mar[?] |
mar(9) |
all
centromeric probes |
n.a. |
{24} 1
case |
09-
U-
9 |
see
mult 2-15 |
09-
U-
10 |
female/
prenatal |
AF |
n.a. |
47,XX,+mar[22]/
46,XX[6] |
dic(9)(:p11.1→q11:
:q11→p11.1:)[10]/
dic(9)(:q11→p12:
:p12→q11:)[4]/
dic(9)(:p11.1→q11:
:q11→p12:)[2]/
r(9)(::p12→q11~12:
:q11~12→p12::)[1] |
cenM;
subcenM |
AMA
- TOP; no further information available |
{0}
provided from Germany |
09-
U-
11 |
female/
postnatal |
PBL |
n.a. |
47,XX,+9[4%]/
47,XX,+mar[70%]/
46,XX[26%] |
min(9)(:p21.1→q13:)* |
various
FISH-probes as characterized in {28} |
n.a. |
{28} |
09-
U-
12 |
male/
prenatal |
AF |
de
novo |
47,XY,+mar[50%]/
46,XY[50%] |
r(9)(::p12→q12::) |
cenM,
subcenM |
abnormal
sonography, TOP, no autopsy |
{30}
case 6 |
09-
U-
13 |
female/
prenatal |
AF |
de
novo |
47,XX,+mar1[11]/
47,XX,+mar2[5]/
46,XX[4] |
mar(9),mar(9) |
n.a. |
AMA,
TOP |
{31}
case 110 |
09-
U-
14
to 15 |
n.a./
prenatal |
AF |
n.a. |
47,+mar[?%] |
mar(9) |
SKY |
no
info available |
{36} 1
new case - second case i(9p) |
09-
U-
16 |
see +0Xf-09-2 |
{47}
case 2 |
09-
U-
17 |
male/
prenatal |
AF |
n.a. |
47,XY,+mar[100%] |
min(9)(:p12→q12:) |
cenM;
subcenM |
AMA,
normal sonography - no further information |
{0}
provided from Germany |
09-
U-
18 |
male/
prenatal |
AF |
n.a. |
47,XY,+mar[67]/
46,XY[33] |
min(9)(:p11.2→q12:) |
cenM;
subcenM |
AMA,
normal sonography - no further information |
{0}
provided from Israel |
09-
U-
20 |
see
09-Uu-1 |
09-
U-
21 |
n.a./
n.a. |
n.a. |
n.a. |
47,+mar[?%]/
47,+9[?%] |
mar(9) |
n.a.;
aCGH |
n.a
|
{65} |
09-
U-
22 |
see
09-Uc-1 |
09-
U-
23 |
see
09-Uc-2 |
09-
U-
24 |
see
PsMcCl-09-U-p22.2/1-1 |
09-
U-
25 |
male/
prenatal |
AF |
de
novo |
47,XY,+mar[100%] |
min(9)(:p12→q12:) |
midi |
n.a. |
{0}
provided from Germany |
09-
U-
26 |
n.a./
prenatal |
AF |
n.a. |
47,XN,+mar[?100%] |
mar(9)(:p21.1→q1?2:) |
aCGH |
n.a. |
{136} |
09-
U-
27 |
female/
prenatal |
AF |
n.a. |
47,XX,+mar[?100%] |
min(9)(pter→q1?2:) |
NGS |
n.a. |
{137}
case 172990
|
09-
U-
28 |
male/
prenatal |
AF |
n.a. |
47,XY,+mar[?100%] |
min(9)(:p11→q1?2:) |
cenM;
subcenM |
n.a.;
twin pregnancy
|
{0}
provided from Serbia |
09-
U-
29 |
male/
prenatal |
CH |
n.a. |
47,XX,+mar[23]/
46,XX[21] |
min(9)(:p11→q11:) |
cenM;
subcenM |
n.a.
|
{0}
provided from Germany |
09-
U-
30
|
female/
5y
|
PBL
|
n.a. |
47,XX,+mar[4]/
46,XX[10] |
der(9)(:p22.1→p22.1:
:p13.1→q12:)
arr[GRCh37]
9p22.1(19,126,476_19,428,721)x3,
9p13.1(no data)x3,
22q13.32q13.33(49,380,360_50,082,127)x3
|
aCGH
subcenM |
22q
dup syndrome
|
{0} provided from Germany |
09-
U-
31
|
n.a./
penatal
|
AF
|
n.a. |
47,XN,+mar[70]/
46,XN[30] |
seq[hg19]
9p12p21(28600000_38780000)x3 (40%)
data unclear- why nor cross-hyb in 9q?
region too large to be harmless; evtl.
mosaic influence
|
aCGH
|
normal at age of 2 years
|
{150} case 12 |
09-
U-
32
|
n.a./
prenatal
|
AF
|
n.a. |
47,XN,+mar[26]/
46, XN[74] |
arr[GRCh]
9p21.1p13.1(30498773_39411673)x2~3
data
unclear- why nor cross-hyb in
9q?
region too large to be
harmless; evtl. mosaic influence
|
aCGH
|
normal
at age of 3.5 years
|
{150} case 15 |
09-
U-
33
|
male/
prenatal
|
chord
blood
|
n.a. |
47,XY,+mar[100%] |
acc.
to aCGH and GTG
del(9)(q12)
|
aCGH
|
TOP
|
{153} case 23 |
|
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
|
09-
Uc-
1 |
female/
postnatal
|
PBL
|
mat balanced
t(3;9) |
47,XX,+mar[100%]
|
der(9)t(3;9)(p25;q21.1)
|
MCB
|
abnormal
phenotype |
{103}
|
09-
Uc-
2
|
male/
3 m |
PBL
|
mat balanced
t(7;9) |
47,XY,+mar[100%]
|
der(9)t(7;9)
(p22;q22) |
wcps
|
DD, DYS
|
{104}
|
09-
Uc-
3
|
male/
stillborn |
PBL
|
mat balanced
t(6;9) |
47,XY,der(6)t(6;9),
+mar[100%] |
der(9)t(6;9)
(q27;q21.1)
|
none
|
DYS; 3h postnatal
death, as the karyotype led to
trisomy 9
|
{133}
|
09-
Uc-
4
|
male/
newborn |
PBL
|
mat balanced
t(1;9) |
47,XY,+der(9)t(1;9),(p36;q22)
[100%] |
der(9)t(1;9),(p36;q22)
|
none
|
DYS; DD
|
{134}
|
09-
Uc-
5
|
female/
prenatal |
AF
|
mat balanced
t(4;10;9)(q12;p11;q13)
|
47,XY,+der(9)t(9;10)(q13;p11)[100%]
|
der(9)t(9;10)(q13;p11)
|
none
|
DYS; TOP
|
{135}
|
09-
Uc-
6
|
female/
prenatal |
AF
|
n.a.
|
47,XY,+der(?9)[100%]
|
der(9)t(9;16)(q12;q11.2)
|
subcen
|
n.a.
|
{0}
provided from Germany
|
09-
Uc-
7
|
male/
postnatal |
PBL
|
mat balanced
t(9;16) |
47,XY,+der(?9)[100%]
|
der(9)t(9;16)(q13;p13)
|
n.a.
|
DYS; DD
|
{146}
|
|