 |
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- CHROMOSOME #1 -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(1)mat | UPD(1)pat | UPD(1)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 |
| 01- N- p32/ 1-1 |
see McCl-01-N-p32/1-1 | |||||||
| 01- N- p22/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[?%]/ 46,XY[?%] |
r(1)(::p22→p21::) |
CGH | Enhanced nuchal translucency (>4mm); in 24th week intrauterine fetal atrophy and mild features of DD; in autopsy no congenital defects detected. | {45} case 14 |
| 01- N- p21.1/ 1-1 |
male/ postnatal |
PBL | n.a. | 47,XY,+mar[80%]/ 46,XY[20%] |
r(1)(::p21.1→q21.3::) aCGH (hg19): 96.42-99.98 |
aCGH; midi, rev. FISH | mental retardation | {86} |
| 01- N- q21/ 1-1 |
n.a./ prenatal |
AF | de novo | 47,+mar[?] | r(1)(::q21→q22::) | centromeric probes; SKY? | Intrauterine fetal atrophy in week 24; TOP; autopsy confirmed mild intra-uterine growth retardation | {37} case 1 {52} |
| 01- N- q23/ 1-1 |
see McCl-01-N-q23/1-1 | |||||||
| 01- N- q32/ 1-1 |
see PsMcCl-01-N-p32/1-1 | |||||||
| 01- N- q43/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[50%]/ 46,XY[50%] |
r(1)(::q43→q44::) | midi, 11 centromeric probes | Advanced maternal age and anxiety; no ultrasound abnormalities; birth by cesarean section, due to cardiac rhythm disturbances; child normal at 6m | {27} case 1; {40} case 13 {31; 36; 52; 80} |
| 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 |
| 01- N- qt23~24/ 1-1 |
female/ 2.5y |
PBL/ bone marrow |
de novo acquired |
51,XX, +8,+8,+21,+21,+mar |
inv dup(1)qter→q23~24: :q23~24→q43→qter) |
M-FISH, MCB | normal girl suffering from AML-M5a at age of 2 y → for larger neocentric marker in non-Hodgkin lymphoma see Ref {72} | {71} |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
| 01- N- IMB- q32/ 1-1 |
male/ postnatal, infant |
AF | de novo | 46,XY,dup(1)(q32q44) | different FISH-probes CGH | DD; MR | {60} |
| 01- N- IMB- q32/ 1-2 to 1-11 |
further
comparable cases - for review see {61} |
||||||
| 01- N- IMB- q32/ 2-1 |
female/ postnatal, infant |
PBL | de novo | 46,XX,trp(1)(q32q44) | different FISH-probes; array-CGH | DD, MR | {68} |