 |
 |
- CHROMOSOME #9 -
NORMAL
| Cases
without clinical findings |
Similar
imbalances - no sSMC |
sSMC
not well characterized |
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- O- pter/ 1-1 |
see 09-W-iso/2-1 | |||||||
| 09- O- pter/ 1-2 |
see 09-W-iso/2-2 | |||||||
| 09- O- pter/ 1-3 |
see 09-W-iso/2-3 | |||||||
| 09- O- pter/ 1-4 |
see 09-W-iso/2-4 | |||||||
| 09- O- pter/ 1-5 |
see 09-W-iso/2-5 | |||||||
| 09- O- p13.2/ 1-1 |
male/ prenatal |
AF | de novo |
47,XY,+mar[31]/ 46,XY[9] |
min(9)(:p13.2→q12:) | subcenM; 1 Mb
set |
NIPT
showed a trisomy 9 and CVS as well.
sonography normal; normal child born |
{0} |
| 09- O- p13.1/ 1-1 |
female/ 27y |
PBL | n.a. | 47,XX,+r[26]/ 46,XX[4] |
r(9)(::p13.1→q21.12::) | aCGH | normal female with recurrent miscarriages (4 miscarriages & 1 live birth) | {54} case 1 {109} case 9-1 |
| 09- O- p13.1/ 2-1 |
female/ adult |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[27]/ 46,XX[8] |
del(9)(q11) | pcps, subtelomere 9pter and cep 9 | normal female, infertile | {0} provided from Spain |
| 09- O- p12/ 1-1 |
male/ prenatal |
AF | de novo | 47,XY,+mar[5]/ 46,XY[15] |
min(9)(:p12→q10:) 44.39-? MB r(9)(::p11.2→q10::) |
midi; aCGH |
no ultrasound abnormalities; child born without clinical symptoms; no symptoms at age of 5 years | {0} {2} case 56 |
|
***
09-O- p12/ 1-2 |
female/ 28y |
PBL | de novo | 47,XX,+mar[15]/ 46,XX[5] |
r(9)(::p12→q10::) 42.96-70.50 MB r(9)(::p11.2→q10::) |
midi; cenM; subcenM aCGH |
healthy woman; however, history of three abortions; one healthy daughter has the same marker in 50% of the blood cells | {0} {2} case 55 {45} case 15 {109} case 9-2 |
| 09- O- p12/ 1-3 |
female/ prenatal |
AF, PBL | n.a. | Amnion:
47,XX,+mar[9]/ 46,XX[26] Blood: 47,XX,+mar[30]/ 46,XX[10] |
r(9)(::p12→q11::) aCGH: no euchromatin detected |
cenM; subcenM |
AMA, twin pregnancy; second twin - male - without mar, normal at 2 years | {0} provided from Turkey |
| 09- O- p12/ 1-4 |
female/ 22y |
PBL |
n.a. | 47,XX,+mar[14]/ 46,XX[109] |
min(9)(:p12→q10:) |
cenM | normal female,
infertile |
{0} provided from Croatia |
| 09- O- p12/ 2-1 |
male/ prenatal |
AF | maternal (73% in mother) |
47,XY,+mar[10]/ 46,XY[16] |
min(9)(:p12→q11:) | midi | AMA. no data available on child, however, mother was normal. | {11} case 3 |
| 09- O- p12/ 2-2 |
female/ 39y |
PBL | n.a. | 47,XX,+mar[100%] |
min(9)(:p12→q11:) | ceps, subcenM |
normal female, infertile | {0}
provided from Germany |
| 09- O- p12/ 2-2 |
male/ prenatal |
AF | maternal (40% in mother) |
47,XY,+mar[100%] | min(9)(:p12→q11:) | SKY; cep9; YAC 782D6 | Amniocentesis due to ??; child normal at birth; mother was normal. | {23} case 8 |
| 09- O- p12/ 3-1 |
female/ postnatal |
PBL | de novo | 47,XX,+mar[?%]/ 46,XX[?%] |
min(9)(:p12→q12:)[1]/ min(9)(:p12→q12: :q12→p12:)[5]/ r(9)(::p12→q12::)[2]/ r(9)(::p12→q12: :p12→q12::)x2[1] |
M-FISH; CGH, HR-CGH, subcenM | normal woman, but with repeated miscarriage | {32, 35} {45} case 16 {109} case 9-3 |
| 09- O- p12/ 3-2 |
male/ 21y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+mar[90%]/ 46,XY[10%] |
r(9)(::p12→q12::)[8]/ min(9)(:p12→q12:)[5]/ r(9;9)(::p12→q12: :p12→q12::)[2] aCGH: no euchromatin detected |
cenM, subcenM; aCGH |
normal man, but infertility | {100} case Srm-2 {109} case 9-4 |
| 09- O- p12/ 4-1 |
male/ 52y |
PBL (EKF- cellbank) |
n.a. | 47,XY,+r[22%]/ 46,XY[78%] |
r(9)(::p12→q12::) | M-FISH; subcenM | normal male; secondary sterility | {0} provided from Germany |
| 09- O- p12/ 4-2 |
male/ prenatal |
AF, PBL (EKF- cellbank) |
n.a. | 47,XY,+r[50%]/ 46,XY[50%] |
r(9)(::p12→q12::)[6]/ min(9)(:p12→q12:)[4] |
cenM, subcenM; UPD-test | AMA, normal sonography, normal child born | {0} provided from Germany |
| 09- O- p12/ 4-3 |
male/ 32y |
PBL | n.a | 47,XY,+mar[100%] | min(9)(:p12→q12:) aCGH: no euchromatin detected |
cenM, subcenM; aCGH |
normal male, infertility | {109} case 9-5 |
| 09- O- p12/ 4-4 |
female/ 34y |
PBL | n.a | 47,XX,+mar[20%]/ 46,XX[80%] |
min(9)(:p12→q12:) | cenM, subcenM | normal female, infertility; repeated abortions | {0} provided from Germany |
| 09- O- p12/ 5-1 |
male/ prenatal |
AF |
n.a | 47,XY,+mar[53]/ 46,XY[19] |
min(9)(:p12→q11:)[7]/ min(9)(:p12→q12:)[4] acc. to aCGH: 9p21.3 - q13; 23.78-68.15 MB |
cenM; subcenM; UPD-test | enhanced nuchal translucency in early pregnancy, in week 32 normal in ultrasound, child normal at birth | {0} provided from Germany |
| 09- O- p12/ 5-2 |
male/ prenatal |
AF | de novo | 48,XY,+mar,+r[4]/ 47,XY,+mar[25]/ 47,XY,+r[1]/ 46,XY[6] |
min(9)(:p11.1→q1?2:)/ r(9)(p12→q1?2) aCGH shows due to crosshybridization p13.1 to q21.1 UPD(9)pat |
aCGH; cep9; UPD test | AMA, normal sonography, normal child born | {120} |
| 09- O- p12/ 5-3 |
male/ adult |
PBL | n.a. | 47,XX,+mar | min(9)(:p11.2→q11:) | cenM; subcenM | normal female,
infertile |
{0} provided from Spain |
| 09- O- p12/ 6-1 |
female/ 5y |
PBL (EKF- cellbank) |
de novo | 51,XX,+mar1,+mar2x4[1]/ 49,XX,+mar1x2,+mar3[1]/ 48,XX,+mar1,+mar2[9]/ 48,XX,+mar1,+mar3[5]/ 47,XX,+mar2[2]/ 47,XX,+mar3[1]/ 46,XX[1] |
mar1 = min(9)(:p12→q10:) mar2 = min(9)(:p11.1→q12:) mar3 = r(9)(::p11.1→q12::) |
cenM; subcenM; UPD-test | normal phenotype with dwarphism - possibly familial |
{0} provided from Germany |
| 09- O- p11.2/ 1-1 |
n.a./ adult |
PBL | n.a. | 47,XN,+mar[?%] | r(9)(::p11.2→p10::) | MCB | normal, infertile. | {141} 1 case |
| 09- O- p11.1/ 1-1 |
female/ prenatal |
AF/PBL | de novo | 47,XX,+mar[40%]/ 46,XX[60%] |
r(9)(::p?11.1→q?13::)* | radioactive ISH; satellite III probe for chr. 9 | AMA. child normal at age of 4.5 years. | {7} case 2 |
| 09- O- p11.1/ 2-1 |
n.a./ prenatal |
AF | de novo | 47,+mar[20%]/ 46[80%] |
r(9)(::p11.1→q12::)[19]/ r(9)(::p11.1→q12: :q12→p11.1::) |
cenM, subcenM; UPD-test | AMA. child normal at birth |
{0} provided by from Germany |
| 09- O- p11.1/ 3-1 |
female/ 39y |
PBL | n.a. | 47,XX,+mar1[15]/ 47,XX,+mar2[11]/ 46,XX[24] |
mar1:
min(9)(:p11.1→q12:) mar2: min(9)(:p11.1→q12: :q12→p11.1:) |
cenM, subcenM |
normal phenotype - infertility | {0} provided by from Germany |
| 09- O- p11.1/ 3-2 |
male/ 43y |
PBL | n.a. | 47,XY,+mar[9]/ 46,XY[6] |
min(9)(:p11.1→q12:) | cenM, subcenM |
normal phenotype - infertility | {0} provided from Spain |
| 09- O- p11.1/ 4-1 |
male/ 43y |
PBL | n.a. | 47,XY,+mar[67%]/ 46,XY[33%] |
min(9)(:p11.1→q11:) | cenM, subcenM |
normal phenotype - infertility | {0} provided from Greece |
| 09- O- p11.1/ 4-2 |
male/ 33y |
PBL | n.a. | 47,XY,+mar[100%] | min(9)(:p11.1→q11:) | cenM, subcenM |
normal phenotype - infertility | {0}
provided from Poland |
| 09- O- p11.1/ 4-3 |
male/ 30y |
PBL | n.a. | 47,XY,+mar[100%] | min(9)(:p11.1→q11:) aCGH - no imbalance |
cenM, subcenM |
normal phenotype - infertility | {0}
provided from Germany |
| 09- O- p11.1/ 5-1 |
male/ prenatal |
AF/ PBL/ bucal
mucosa |
n.a. | 47,XY,+mar[100
to 4%]/ 46,XY[0 to 96%] |
r(9)(::p11.1→q21.33::) (bp in q: 88.6 Mb |
aCGH | normal phenotype - due to low level mosaic | {140} |
| 09- O- p10/ 1-1 |
n.a./ prenatal |
AF, PBL (EKF- cellbank) |
maternal | 47,+mar[105]/ 46[6] |
min(9)(:p10→q13:) FISH-data: RP11-430C15 (66.18 MB) on sSMC |
cenM, subcenM, M-FISH | AMA. mother normal with mos min(9)(:p10→q13:)/min(9)(:q13→p10::p10→q13:) in PBL: 47,XX,+mar[11]/46,XX[39] - in FISH 47,XX,+mar[9]/46,XX[216] | {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 |
| 09- O- IMB- p13.1/ 1-1 |
female/ adult |
PBL | n.a. | 46,XX,dup(9)(p13.1p11.2) | cep probes | normal pregnant women - also in unborn child and later born normal child | {43} |
| 09- O- IMB- p12/ 1-1 |
female/ prenatal |
AF | maternal | 46,XX,dup(9)(p11q12) | n.a. | detected in prenatal diagnosis, normal child born, mother normal as well | {50} |
| 09- O- IMB- p11/ 1-1 |
female/ adult |
PBL | familial | 46,XX,dup(9)(p11q13) | cep probes | detected in a mentally retarded women, sister with same variant normal | {40} |
| 09- O- IMB- p11/ 2-1 |
male/ adult |
PBL | familial | 46,XY,dup(9)(p11q12) | CGH | detected in a mentally retarded sons, father and grandfather with variant normal | {42} |
| 09- O- IMB- p11/ other variants |
for similar variants in p1 and q12 see {41; 44} |
{41; 44} | |||||
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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 |
| 09- CO- 1 |
female/ prenatal |
AF/PBL cell line at ECACC DD1362 |
maternal | 47,XX,+mar[80%]/ 46,XX[20%] (in mother in 70% of PBL) |
min(9) | all available centromeric probes; UPD-test | normal at birth; mother normal at age of 38y | {3} case 8 {15} case 1 |
| 09- CO- 2 |
female/ n.a. |
AF | maternal mar in mosaic (grade not specified) |
47,XX,+mar[100%] | mar(9) | FISH with cep probes | normal | {17} |