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- CHROMOSOME #7 -
NEOCENTRIC
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(7)mat | UPD(7)pat | UPD(7)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 |
| 07- N- mar/1 |
n.a./ child |
PBL | n.a. | 47,+mar[45%]/ 46[55%] |
mar(7) | kind of M-FISH | learning/DD/ dysmorphic features | {12} |
| 07- N- q22.1/ 1-1 |
prenatal/ male |
AF; PBL | de novo | 47,XY +r(7) [8]/ 46,XY [92] sSMC in amnion: 59%; in blood (3 months): 28% in blood, 10 years): 7-8% |
r(7)(q22.1q31.1)(RP11-473H4+, RP11-656D16+) |
aCGH FISH M-FISH |
Intrauterine growth restriction (IUGR), MR, DD, facial abnormalities, external genital defects; axial hypotonia, segmental hypertonia | {0} provided from France |
| 07- N- q22/ 1-1 |
see McCl-07-N-q22/1-1 | |||||||
| 07- N- qt35/ 1-1 |
9y/ female |
PBL, fibroblasts | n.a. | 47,XX,+mar[20%]/ 46,XX[80%] in skin 73% sSMC |
inv dup(7)(qter→q35: :35→qter) aCGH: 143.7Mb to qter |
aCGH; FISH | DYS, DD | {45; 47} |
| 07- N- qt36.1/ 1-1 |
n.a./ n.a. |
n.a. | n.a. | n.a. | inv dup(7)(qter→q36.1: :36.1→qter) |
n.a. | n.a. | {17} |
| 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 |
| 07- 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 |
07-N- IMB- pter- different length |
partial trisomy of 7pter | {28} |
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07-N- IMB- qter- different length |
partial trisomy of 7qter | {31} |
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