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- CHROMOSOME #13 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(13)mat | UPD(13)pat | UPD(13)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 |
| 13- O- q10/ 1-1 |
female/ postnatal |
PBL | n.a. | 46,XX,t(13;13)(q10) | midi | infertile | {0} provided from Germany | |
|
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13-O- q11.2/ 1-1 |
female/ prenatal |
AF |
de novo | 47,XX,+mar[100%] in PBL sSMC only in 8/30 lymphocytes |
min(13)(pter→q12.11:) FISH-data: present at least up to 19.32 MB |
cenM; subcenM | AMA; normal child at 10 months of age | {0} provided from Israel |
| 13- O- q12.1?1/ 1-1 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[7]/ 46,XX[3] |
r(13)(::p11.2→q12.1?1::) | cenM; subcenM | AMA; normal child born | {0} provided from Germany |
| 13- O- q12.11/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[73%]/ 46,XY[27%] |
min(13)(pter→q12.11:) | acrocenM; subcenM | AMA; normal child born | {0} provided from Germany |
| 13- O- q12.2/ 1-1 |
female/ prenatal |
AF/ PBL | de novo | 47,XX,der(13),+mar[100%] | 47,XX,dic(13)(pter→q12.2: :p11.2→qter), +min(13)(pter→q12.2: :p1?2→pter) |
cep probes, subcenM | Aberrant first trimester screening, normal child born and normal at 1 y | {0} provided from Germany |
| 13- O- q12.1?3/ 1-1 |
see 13-Uc-1 | |||||||
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| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 13- O- IMB- q/ 1-1 |
- |
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- |
| 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 |
| 13- CO- 1 |
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