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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: 14,548,093 |
aCGH | growth retardation, DYS, DD, death
after birth |
{48} |
| 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 by Dr. Weimer, Kiel, 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 | ||||||||
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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 |
| 06- N- q/ 1-1 |
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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 |
| 06- N- IMB- p2?/ 1-1 to 7-1 |
7 cases with partial trisomy of 6pter; see also {33} | {27-30; 33} | |||||
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