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- CHROMOSOME #4 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(4)mat | UPD(4)pat | UPD(4)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 |
| 04- O- p13/ 1-1 |
moved to 04-W-p14/1-2 | |||||||
| 04- O- p13/ 2-1 |
male/ prenatal |
AF, PBL | de novo | 47,XY,+mar[14]/ 46,XY[6] interphase of PBL at delivery: 189/200 with sSMC |
mar(4)(:p13→q13.1:) array: 44.03-62.63 MB |
aCGH; cep 4 | AMA and abnormal serum screening; normal at birth and at age of 1y | {36} case 2 |
|
***
04-O- p12/ 1-1 |
male/ adult |
PBL | de novo | 47,XY,+mar[23]/ 46,XY[27] |
r(4)(::p12→q13.1::) ~2.5 MB in 4p and ~8.5 Mb in 4q euchromatin |
pericentric BAC set | infertility and asthenoteratozoospermia | {43} case 3 {45} case 4-1 |
| 04- O- p12/ 2-1 |
male/ 30y |
PBL bucal cells |
n.a. | PBL:
47,XY,+mar[100%] BC: sSMC in 45-55% |
r(4)(::p12→q13.1::) 46,866,413-63,393,712 [hg19] |
aCGH | case possibly identical to 04-CO-1; normal male; finding incidentially | {0} provided from Denmark |
| 04- O- p12/ 3-1 |
female/ 40y |
PBL |
n.a. | 47,XYX+mar[15]/ 46,XX[15] |
min(4)(::p12→q12::) |
cenM; subcenM |
infertility | {0} provided from Spain |
| 04- O- p12/ 3-2 |
male/ 46y |
PBL |
n.a. | 47,XY,+mar[26]/ 46,XY[4] |
r(4)(::p12→q12::) 47,820,376-58,738,765 [hg19] |
FISH, aCGH |
infertility; the cells with sSMC were ransformed to an IPS cellline |
{50} |
| 04- O- p12/ 4-1 |
female/ 9y |
PBL |
n.a. | 47,XX,+mar[90%]/ 46,XX[10%] |
min(4)(::p12→q11::) |
cenM; subcenM |
normal apart
from dwarfism |
{0} provided from Germany |
| 04- O- p12/ 4-2 |
male/ 39y |
PBL |
n.a. | 47,XY,+mar[11]/ 46,XY[11] |
min(4)(::p12→q11::) |
cenM; subcenM |
normal male,
infertile |
{0} provided
from Poland |
| 04- O- p11/ 1-1 |
male/ 47y |
PBL | n.a. | 47,XY,+mar[62%]/ 46,XY[38%] |
min(4)(:p11→q12:) | cenM, subcenM | normal male, infertile | {45} case 4-2 |
| 04- O- p11/ 1-2 |
female/ 29y |
PBL | n.a. | 47,XY,+mar[100%] | min(4)(:p11→q12:) | cenM, subcenM | normal female, infertile | {0} provided
from Germany |
| 04- O- p11/ 2-1 |
female/ prenatal |
CVS/ AF | de novo | 48,XX,+marx2[1]/ 47,XX,+mar[17]/ 46,XX[8] trisomy 4 mosiac in placenta |
min(4)(:p11→q11:) | cenM, subcenM | IUGR due to small palcenta; (small) normal child born and normal at 1of age | {0} provided from Germany |
| 04- O- p11/ 2-2 |
female/ 34y |
PBL | n.a. | 47,XX,+mar[84]/ 46,XX[16] |
min(4)(:p11→q11:) | cenM, subcenM | normal female, infertile | {0} |
|
***
04-O- p11/ 3-1 |
female/ 43y |
PBL | n.a. | 47,XX,+mar[35]/ 46,XX[15] |
r(4)(::p11→q13.1::) FISH: breaks betw. RP11-100N21 and centromere = between 47,71 and 48,20 Mb; and betw. RP11-257A22 and RP11-204H9 = 63,770,878 and 65,296,627 (GRCH37/hg19) |
cenM, subcenM; 1Mb-probeset | mentally normal female, studied after abortion, (also present: overgrowth; macrocephaly; diabetes) | {0} provided from Germany |
| 04- O- p11/ 4-1 |
see 04-Ud-1 | |||||||
| 04- O- p11/ 5-1 |
male/ 35y |
PBL | n.a. | 47,XX,+mar[100%] | min(4)(:q12→q12::q12→q12::q12→p11:
:p11→q12::q12→q12::q12→q12:)
or r(4)(::q12→q12::q12→q12::q12→p11: :p11→q12::q12→q12::q12→q12::) arr[GRCh37] 4q11q12(52697097_52810720)x4, 4q12(53786461_55193270)x4, 4q12(56213874_56632165)x4 |
aCGH; BACs |
normal male,
infertile, abortions in partnership |
{0} provided from Germany |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
|
04- O- IMB- p or q/ 1-1 |
- | - | - | - | - | - | - |
| 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 |
| 04- CO- 1 |
male/ 1m |
PBL | de novo | 47,XY,+mar[70%]/ 46,XY[30%] |
mar(4) | all available centromeric probes | normal at age of 7y | {8} case 39997 |