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CHROMOSOME #12 -
NORMAL
| Cases
without clinical findings |
Similar
imbalances - no sSMC |
sSMC
not well characterized |
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 |
| 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)(:p12.2~12.1→q10:) 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)(:p11.22→q11:) | 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)(::p11.21→q11::) 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)(:p11.1→q12:) 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)(:p11.1→q12:) 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)(:p11.1→q11:) | cenM subcenM |
AF due to AMA, mother normal | {0} provided by Dr. Prager, Dresden, Germany |
| 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 |
- |
- |
- |
- |
- |
- |
- |
| 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 |