ChromosOmics - Database
tl_files/tiny_templates/Bilder
                          TL/sSMC-book.jpg tl_files/tiny_templates/Bilder
                          TL/hetmorh-book.jpg

                                                  CHROMOSOME #12 -                                                 
NORMAL

Cases without clinical
findings

Similar imbalances -
no sSMC

sSMC
not well characterized

Cases with clinical findings
Similar imbalances – no sSMC
Cases with isochromosome 12p
Cases without clear clinical correlation
Cases with discontinous sSMC
Cases with complex sSMC
Cases with UPD and sSMC
Cases (sSMC) with neocentromeres
Similar imbalances - no sSMC
Tumor
DISCLAIMER

References

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(12)mat UPD(12)pat UPD(12)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
12-
O-
p12.2~
12.1/
1-1
male/
45y
PBL n.a. 47,XY,+mar[66%]/
46,XY[34%]
min(12)(:p12.2~12.1q10:)
FISH-data: RP11-517B23 at 31.4MB on sSMC
midi, subcenM, MCB ICSI-patient, normal with prognathia {150} case 17
{250} case 12-1
12-
O-
p11.22/
1-1
female/
36y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[15]/
46,XX[3]
min(12)(:p11.22q11:) cenM,
subcenM
normal female, studied due to OAT syndrome of partner {250} case 12-2
***
12-
O-
p11.2/
1-1

female/
prenatal

AF/
PBL
de novo
47,XX,+mar[11]/
46,XX[9]
PBL (postnatal): mar in 7/10 cells
r(12)(::p11.2→q11::)
RP11-847A19, RP11-133R2 (28.47MB) and RP118P13 (32.94MB) present on sSMC
aCGH, cep 12 AF due to abnormal MS-AFP; at 6m normal development {143} case 2
{186} case 4
12-
O-
p11.2/
2-1
male/
34y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[3]/
46,XY[27]
min(12)(:p11.2→q11:) cenM,
 subcenM
normal male, infertile {250} case 12-3
12-
O-
p11.21/
1-1
male/
prenatal
AF n.a. 47,XY,+mar[3]/
46,XY[17]
r(12)(::p11.21q11::)
FISH-data: RP11-517B23 at 31.4MB on sSMC
midi, subcenM, MCB; UPD-test AMA, at birth normal child {0} provided by Dr. Hickmann, Düsseldorf, Germany
12-
O-
p11/
1-1
see 12-Uu-1
***
12-
O-
p11.1/
1-1

male/
prenatal
AF paternal
25% in PBL
47,XY,+mar[23]/
46,XY[7]
min(12)(:p11.1q12:)
FISH-data: RP11-498B21 at 39.9MB on sSMC
cenM
subcenM
AMA, father with same marker normal {0} provided by Dr. Hickmann, Düsseldorf, Germany
***
12-
O-
p11.1/
2-1

female/
adult
PBL n.a. 47,XX,+mar[50%]/
46,XY[50%]
min(12)(:p11.1q12:)
aCGH-data: 34.03 to 40.84MB - FISH confirmed 39.5 MB
cenM;
subcenM;
aCGH
normal female; sSMC inherited to developmentally delayed son (9y) - he has sSMC in 100% of PBL and 80% of bucchal muccosa {0} provided by Dr. Ovensräder, München, Germany
12-
O-
p11.1/
3-1
male/
prenatal
AF maternal 47,XY,+mar[17]/
46,XY[23]
min(12)(:p11.1q11:) cenM
subcenM
AF due to AMA, mother normal {0} provided by Dr. Prager, Dresden, Germany

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
12-
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
12-
CO-
1
female/
prenatal
AF/PBL
cell line at ECACC DD0085

de novo
47,XX,+mar[3%-90%]/
46,XX
(mar in 38% of PBL)
min(12) all centromeric probes; wcp 12; UPD-test AMA,  clinically normal after birth and at 7m {5} case 9
{12} case 3
12-
CO-
2
female/
adult
AF
cell line at ECACC DD1188
n.a. 47,XX,+mar[15]/
46,XX[15]
ish min(12) (cep12+; wcp12-) all centromeric probes; wcp 12 clinically normal mother; same mar in child which died shortly after birth {11}
case6