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- CHROMOSOME #18 -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(18)mat | UPD(18)pat | UPD(18)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 |
| 18- N- mar/1 |
male/ 1y |
PBL |
de novo | 47,XY,+mar[64]/ 46,XY[36] |
der(18) D18Z1-; wcp18+ | different FISH probes (D15Z1; wcp15) | see below | {3} case 4; {99} |
| born with cesarean section; weight 2600g; length 51cm; mild mental retardation; cardiovascular abnormalities VSD; mild valvular pulmonic stenosis, imperforate anus, dysplastic kidney; dysmorphic features, microtia; conductive hearing loss; brain with generalized dilation of ventricles; at age of 16 height of 180 cm | ||||||||
| 18- N- qt22.1/ 1-1 |
male/ preantal |
AF | de novo | 47,XY,+mar[100%] |
inv dup(18)(qter→q22.1: :q22.1→qter) |
different FISH probes (BACs, SKY) | AMA, nasal bone hypoplasia, TOP; in autopsy no external dysm. signs | {175} |
| 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 |
| 18- N- p or 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 |
| 18- N- IMB- pter/ 1-1 to mult |
16 cases with
trisomy 18p Review >20 patients with dup 18p and (almost) no symptoms {115} |
{100} 3
cases {101} {102} 2 cases {103} 9 cases {107} 1 case {115} |
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| 18- N- IMB- qter/ 1-1 to mult |
see {118} | {118} | |||||
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