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|
ChromosOmics
- Database
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- CHROMOSOME #7 -
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
|
07-
O-
p11.2/
1-1
|
female/
prenatal
|
AF |
de novo |
47,XX,+mar[10]/
46,XX[12]
|
min(7)(:p11.2→q11.22:)
FISH-data: RP11-10F11 (56.45 MB) on sSMC
array-data: 61.6-67.0 MB
|
cenM; subcenM;
UPD-test |
see below |
{1} case
12
{0} |
Amniocentesis
due to AMA and a chronic myleogeneous leukemia
under interferon-therapy of the father; child
born without any signs of dysmorphism
|
07-
O-
p11.2/
2-1 |
female/
prenatal
|
AF, PBL
(EKF-
cellbank)
|
maternal |
47,XX,+mar[100%] |
min(7)(:p11.2→q11.1:)
FISH-data: RP11-10F11 (56.45 MB) |
cenM;
subcenM |
AMA; mother normal; normal
child born |
{0}
provided from Germany
|
***
07-
O-
p11.2/
2-2 |
female/
40y |
PBL
|
n.a. |
47,XX,+mar[15]/
46,XX[17] |
min(7)(:p11.2→q11.1:)
aCGH [hg19]: 54.549-57.510
|
aCGH;
subcenM |
normal, but abnormal child
|
{0}
provided from Germany
|
07-
O-
p11.1/
1-1 |
female/
24y
|
PBL |
n.a. |
47,XX,+mar[82%]/
46,XX[18%]
|
min(7)(:p11.1→q11.21:)
|
cenM;
subcenM |
infertile |
{43} case
7-1 |
07-
O-
p11.1/
1-2 |
female/
37y
|
PBL |
n.a. |
47,XX,+mar[12%]/
46,XX[88%]
|
min(7)(:p11.1→q11.21:)
|
cenM;
subcenM |
infertile |
{0} provided from Greece
|
|
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
|
07-
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
|
07-
CO-
1 |
male/
adult
|
PBL |
de novo |
47,XY,+mar[?]/
46,XY[?]
|
dic(7)
|
cep probes |
infertile male |
{18} case
8
{43} case 7-2 |
07-
CO-
2
|
male/
prenatal
|
AF |
de novo |
47,XY,+mar[100%] |
mar(7)
|
cep probes? |
normal at 7 days |
{22} case
58
{27} case 11 |
07-
CO-
3
|
male/
41y |
PBL |
n.a. |
47,XY+mar[14]/
46,XY[26] |
mar(7)
|
cep probes? |
infertile male |
{48}
|
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|