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- CHROMOSOME #9 -
NEOCENTRIC
In general 70% of sSMC carriers are clinically normal. The figures listed above
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(9)mat | UPD(9)pat | UPD(9)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 |
| 09- N- pt21.1/ 1-1 |
male/ 1w |
PBL | de novo | 47,XY,+mar[100%] | inv dup(9)(pter→p21.1: :p21.1→pter) |
alpha-, beta-satellite satIII probes, telomeric probe, all wcp probes, YAC-probes (not specified) | MR and/or DD anomalies detected at birth | {18} case 5; {21;22; 25, 34 - case 2; 38} |
| 09- N- pt12/ 1-1 |
see
PsMcCl-09-N-p12/1-1 |
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| 09- N- q22.33/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[9] 46,XY[91] |
r(9)(::q22.33→q31.3::) hg19: 99.5-113.14 Mb |
aCGH | normal sonography; TOP | {0} |
| 09- N- q31/ 1-1 |
see McCl-09-N-q31/1-1 | {37} |
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| 09- N- qt32/ 1-1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[50%]/ 46,XX[50%] |
inv dup(9)(qter→q32: :q32→qter) | M-FISH MCB |
holoprosencephaly; TOP | {0} provided from Germany |
| 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 |
| 09- N- qt26/ 1-1 |
female/ 50y |
abdominal wall metastasis of a lung sarcanoid carcinoma | de novo; acquired! | GTG and
FISH result combined: 67~71[3n],XX,der(Y)t(Y;14)(p11;q11),del(1)(q23),1der(?1)t(3;15;1;14(3?q;15q?;1?q;14q?),der(2)t(2;20)(p23;?),der(2)t(2;17)(q13;q11?),del(3)(q21),del(3)(q21), +i(3)(qter→q26::q26→qter)x2,del(6)(?q21),+der(6)t(6;17) (?;?),del(7)(q21),+der(8)t(8;21)(?;q21),der(9)t(9;3;13)(q12;?;q11),der(9)t(6;9)(q15?;q21),+i(9)(pter→p23: :p23→pter)x4~6,10,der(11)i?(11)(q10?),-13,der(14)t(14;15)(?;?),der(14)t(14;3;?)(?;?;?),15,der(13;15)(q10;q10),-16,der(17)t(9;17)(p11;q11),-18,19,der(19)t(2;19)(?;q?11),del(21)(q21),-22,der(22)t(17;22)(?;q11)[cp20]. |
M-FISH, various probes as listed in {29} aCGH | see below | {29} | |
| A 50-year-old man presented with a history of cough, hemoptysis, and thoracic pain (regular smoker); cavitating tumor of the right upper lobe diagnosed ( T2 N0 M0). right upper lobectomy showed an excavated tumor 6x5x3 cm. The tumor cells positive for cytokeratin 7, not for cytokeratin 20. Sarcomatoid carcinoma of the lung of the pleomorphic carcinoma subtype was diagnosed. One month after surgery, the patient developed a subcutaneous metastasis on the right thigh (M1). Chemotherapy with cisplatin (100 mg/m2 on day 1) and vinorelbine (25 mg/m2 on days 1, 8, 15, and 22 of a 28-day cycle), but after three cycles the patient progressed with the development of multiple subcutaneous metastases. One of the abdominal wall metastases (M2) was resected for palliative intent 8 months after the initial diagnosis. After two additional lines of chemotherapy, the patient died of progressive disease 13 months after the initial diagnosis. | ||||||||
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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 |
| 09- N- IMB- p24/ 1-1 to 1-3 |
3 cases with
trisomy 9pter see also {48} |
{46} 3 cases | |||||
| 09- N- IMB- q34/ 1-1 to 1-2 |
see {52} | {52} | |||||
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