ChromosOmics - Database

Icon by Leon Liehr                   

                                                  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!


UPD (uniparental disomy) cases: UPD(7)mat UPD(7)pat UPD(7)mat or pat

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)(:p11.2q11.22:)
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)(:p11.2q11.1:)
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)(:p11.2q11.1:)
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)(:p11.1q11.21:) 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)(:p11.1q11.21:) 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}