 |
 |
-
CHROMOSOME #6 -
NEOCENTRIC
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 |
| 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- N- pt25.3/ 1-1 |
male/ newborn |
PBL | de novo | 47,XY,+mar[25]/ 46,XY[22] |
inv
dup(6)(pter→p23: :p23→pter) hg19: 14.548093 Mb |
aCGH | growth
retardation, DYS, DD, death after birth |
{48} |
| 06- N- pt25.3/ 2-1 |
male/ 2y |
PBL | n.a. | 47,XY,+mar[25]/ 46,XY[22] |
inv
dup(6)(pter→p22.1: :p22.1→pter) hg38: 28.285082 Mb |
aCGH | DD, DYS skin pigmentary mosaicism |
{50} case 5 |
| 06- N- q16.2/ 1-1 |
see McCl-06-N-q16.2/1-1 | {16; 24; 25} | ||||||
| 06- N- q24/ 1-1 |
male/ 1y |
PBL | n.a. | 47,XY,+mar[100%] | r(6)(::q24→q25::) | midi | see below | {0} provided from Germany |
| arthogryposis, hypospadia, mild pulmonal stenosis, growth retardation (3rd-25th centile), slightly facial dysmorph | ||||||||
| 06- N- qt26/ 1-1 |
n.a./ prenatal |
AF | de novo | 47,+mar[60%]/ 46[40%] mar not in fetal blood but in placenta |
inv
dup(6)(qter→q26: :q26→qter)* |
all centromeres, wcp probes, sub-telomere 6q | see below | {14; 25} |
| sSMC detected in 16th wog; baby born at 41st wog, APGAR 10/10; at 2 y normal psychomotor development, microcephaly, mild hearing loss | ||||||||
| 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- N- q/ 1-1 |
- |
- |
- |
- |
- |
- |
- |
- |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
GTG-banding and final FISH result | test methods |
clinical symptoms |
Reference |
| 06- N- IMB- p2?/ 1-1 to 7-1 |
7 cases with partial trisomy of 6pter; see also {33} | {27-30; 33} | |||||
| - |
- |
- |
- |
- |
- |
- |
- |