|
|
ChromosOmics
- Database
|
- X-CHROMOSOME -
NORMAL
|
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!
|
Cases without clinical
findings (O)
|
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
|
***
0X-
O-
p11.1/
1-1
|
female/
prenatal
|
PL; PBL
|
de novo |
PL: 47,XX,+mar[15]/46,XX[8]
PBL: 47,XX,+mar[13]/46,XX[2] |
min(X)(:p11.1→q11:)
|
cenM; subcenM; UPD-test |
nuchal translucency in ultrasound;
child born without any abnormal clinical signs |
{1} case 2
{2} case 2
{3} case 9
{4} case 9 |
***
0X-
O-
p11.1/
1-2
|
female/
prenatal
|
AF |
de novo |
47,XX,+mar[100%] |
min(X)?(:p11.1→q11:)
|
cep X; XIST |
detected during prenatal rapid
FISH-test; no ultrasound abnormalities; normal
child born |
{24} case
1 |
***
0X-
O-
p11.1/
1-3
|
female/
22y
|
PBL |
de novo |
47,XX,+mar[100%] |
min(X)(:p11.1→q11:)
|
cenM subcenM |
normal female |
{0}
provided from Czech Rep.
|
0X-
O-
p11.1/
1-4
|
female/
prenatal
|
AF |
n.a. |
47,XX,+mar[100%] |
min(X)(:p1?1.1→q1?1:)
|
cenM subcenM |
AMA, normal sonsgraphy
|
{0}
provided from Germany
|
0X-
O-
p11.1/
1-5
|
female/
prenatal |
chord PBL |
mat |
48,XY,+marx2[35%]/
47,XY,+mar[35%]/46,XY[30%] |
min(X)(:p11.1→q11.1:) |
cenM
subcenM |
normal at
birth
|
{47} case
3
|
|
O-Cases with similar
imbalances NOT caused by sSMC (O-IMB) |
case
no.
|
gender/
age at diagnosis
|
studied
material
|
de
novo/
Inherited
|
GTG-banding
and final FISH result
|
test
methods
|
clinical
symptoms
|
Reference
|
0X-
O-
IMB-
p or q/
1-1 |
-
|
-
|
-
|
-
|
-
|
-
|
-
|
|
O-cases with
unclear/insufficient characterization of the sSMC
(CO) |
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
|
0X-
CO-
1 |
female/
prenatal |
AF/PBL |
de novo |
47,XX,+r[2%]/
46,XX[98%]
mar present in 1.1% of PBL and 2.5% of fetal
membrane |
r(X)
(it is stated in text that Xq13 might be included) |
all available centromeric probes;
wcpX |
normal at birth |
{12} case
37 |
0X-
CO-
2
|
male/
prenatal
|
AF/PBL |
de novo |
47,XY,+mar[100%] |
min(X)(DXZ1+)
|
all available centromeric probes
|
Amniocentesis due to anxiety; normal
at birth |
{23} case
2 |
0X-
CO-
3
|
male/
prenatal
|
AF/PBL |
de novo |
47,XY,+mar[6]/46,XY[17]
(AF: 15th week of gestation)
47,XY,+mar[2]/46,XY[30]
(AF: 21th week of gestation)
47,XY,+mar[6]/46,XY[18]
(PBL: 5 weeks after birth) |
r(X)
(DXZ1+,XIST-)
|
SKY, XIST |
Amniocentesis due to abnormal
maternal serum screening result - Down
syndrome risk 1:138; normal at birth and 1 y
|
{28}
|
|
|
|