ChromosOmics - Database

Icon by Leon Liehr                   

                                                  CHROMOSOME #6 -                                                 
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(6)mat UPD(6)pat UPD(6)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
06-
O-

p22.3/
1-1
see McCl-06-O-p22.3/1-1 {12}
{32} case 10
06-
O-
p12/

1-1
female/
prenatal
AF, chord blood de novo 47,XX,+mar[74%]/
46,XX[26%]
in chord blood mar in 87%
min(6)(:p12q11:) all centromeric probes; wcp 6, RX-FISH at 4y child normal {20} case 2
***
06-
O-
p12.3/
1-1
female/
33y
PBL n.a. 47,XX,+mar[47%]/
46,XX[53%]
min(6)(:p12.3q11.1:)
aCGH [hg19]:
bp in p-arm
48,941,609
Mb
subcenM
aCGH
normal with spontaneous abortions
{0} provided from Greece
06-
O-
p12.1/
1-1
male/
prenatal
AF de novo 47,XY,+mar[100%] min(6)(:p12.1q13:)
aCGH[hg19]: 55.22-72.28Mb
aCGH normal child born {44}
06-
O-

p11.2~
p11.1/
1-1
see McCl-06-O-p11.2~p11.1/1-1
06-
O-
p11.2/
1-1
male/
36y
PBL n.a. 47,XY,+mar[60%]/
46,XY[40%]
min(6)(:p11.2q11.1:) cenM, subcenM infertile {0} provided from Essen, Germany
06-
O-
p11.1/

1-1
female/
prenatal
AF de novo 47,XX,+mar[26]/ 46,XX[5] min(6)(:p11.1q11.1:)
no euchromatin on sSMC detectable
cenM, subcenM
and probes in {15}
aCGH;
UPD-test
AMA, no ultrasound abnormalities; normal child born in gestational week 39+6 {16} case 6-2
{15} case 38
{0}
{39} case Sm-2
06-
O-
p11.1/
1-2
female/
39y

PBL
n.a. 47,XX,+mar[30]/
46,XX[23]
min(6)(:p11.1q11.1:) cenM, subcenM normal female, infertile {0} provided by Dr. Hickmann, Essen, Germany
06-
O-
p11.1/
1-3
n.a./
postnatal

PBL
n.a. 47,XN,+mar[?%] r(6)(:p11.1q11.1:) cep, MCB
normal , infertile {47} 1 case
06-
O-
p11.1/

2-1
male/
35y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] dic(6;6)(:p11q11:
:p11
q11:)
cenM, subcenM infertility 43} case 6-1

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
06-
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
06-
CO-
1
female/
prenatal
AF maternal
(no info on mosaic status)
47,XX,+r[?]/
46,XX[?]
ish r(6)(D6Z1+) FISH with all available centromeric probes normal at 5m; mother clinically normal
{8}
06-
CO-
2
male/
prenatal
AF, PBL de novo 47,XY,+mar[6]/
46,XY[10]
in PBL mar in 8 of 20
ish r(6)(cep+;wcp6+)
aCGH: no resul
t
all centromeric probes; wcp 6, aCGH at 9 months child normal, grossly normal at 2y {11} case 2
{21} case 57
{34} case 2