 |
 |
- CHROMOSOME #2 -
NORMAL
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(2)mat | UPD(2)pat | UPD(2)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 |
| 02- O- p12/ 1-1 |
moved to McCl-02-O-p12/1-1 | {0} {11} |
||||||
| 02- O- p11.2/ 1-1 |
male/ 32y |
PBL | de novo | 47,XY,inv(9)(p11q13),+mar[53]/ 46,XY,inv(9)(p11q13)[47] |
min(2)(:p11.2→q11.1:)[15]/ min(2)(:p11.2→q11.1: :q11.1→p11.2:)[4]/ r(2)(::p11.2→q11.1::)[4]/ r(2)(::p11.2→q11.1: :p11.2→q11.1::)[11] FISH-data: RP11-316G9 (89.6MB) |
cenM subcenM no telomeric signals |
Healthy male; sSMC detected due to karyotype 47,XXX in unborn child | {0} provided by Dr.
Küpferling, Cottbus, Germany |
|
***
02-O- p11.2/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[12]/ 46,XY[3] |
mar(2)(:p11.2→q11.1:) aCGH: 85.62-89.74MB |
aCGH | AMA normal child born |
{51} case 4 |
| 02- O- p11.2/ 3-1 by mistake before 02-O-p11.2/2-2 |
male/ adult |
PBL (EKF- cellbank) |
n.a. | 48,XY,+mar1,+mar2[6]/ 47,XY,+mar[5]/ 46,XY[34] |
mar1:
min(2)(:p11.2→q11.2:), mar2: min(2)(:p11.1→q11.2:) |
cenM subcenM |
normal male infertile |
{0} provided by Reprogent, Spain |
| 02- O- p11.2/ 3-2 |
female/ 34y |
PBL |
n.a. | 47,XX,+mar[100%] | min(2)(:p11.2→q11.2:) | cenM subcenM |
normal
female with dwarfism and infertile |
{0} provided from Essen,
Germany |
|
***
02-O- p11.1/ 1-1 |
male/ 26y |
PBL (EKF- cellbank) |
de novo | 47,XY,+mar[22]/ 46,XY[20] |
r(2)(::p11.1→q12.1::) 91.01-101.58 MB array: r(2)(::p11.2→q12.1::) |
cenM subcenM no telomeric signals; aCGH |
ICSI-patient; no clinical signs at age of 26, fertile | {0} {1} case 6 {41} case 4 {50} case Sr-2 {54} case 2-1 |
| 02- O- p11.1/ 1-2 |
moved to -0Xf-02-1 | |||||||
| 02- O- p11.1/ 2-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar
[80%]/ 46,XY[20%] |
inv dup(2)(:p11.1→q11.1: :q11.1→p11.1:) |
cenM; subcenM | AMA; hand abnormality in previous pregnancy; ultrasound normal in week 15, child born normal; normal at 7 years | {0} provided by Dr. Mazauric, Düsseldorf, Germany |
| 02- O- p11.1/ 2-2 |
female/ 34y |
PBL | n.a. | 48,XX,+marx2[1]/ 47,XX,+mar[3]/ 46,XX[54] |
min(2)(:p11.1→q11.1:) | cenM; subcenM | healthy
female without clinical signs apart from
infertility |
{0} provided by Dr. Martin, Homburg, Germany |
| 02- O- p11.1/ 2-3 |
male/ prenatal |
AF/ PBL |
de novo | AF:
47,XY,+mar[10]/ 46,XY[12] PBL: 47,XY,+mar[21]/ 46,XY[19] |
min(2)(:p11.1→q11.1:)* | SKY; ceps; aCGH; UPD test | AMA; healthy boy born | {58} |
| 02- O- p11.1/ 2-4 |
female/ 46y |
PBL | n.a. | 47,XX,+mar[16]/ 46,XX[4] |
min(2)(:p11.1→q11.1:) | cenM; subcenM | healthy female without clinical signs apart from infertility | {0} provided from
Recklinghausen, Germany |
| 02- O- p11.1/ 2-5 |
male/ 40y |
PBL | n.a. | 47,XY,+mar[100%] | min(2)(:p11.1→q11.1:) | cenM; subcenM | normal male without clinical signs apart from infertility | {0} provided from Essen, Germany |
| 02- O- p11.1/ 3-1 |
female/ 4y |
PBL | de novo | 47,XX,16qh+,+mar[58%]/ 46,XX,16qh+[42%] |
min(2)(:p11.1→q11.1:) aCGH: p11.1 to q11.2: 91,129,939-99,665,160 MB |
cenM;
subcenM; aCGH |
dwarphism -
with high probability not in connection with
sSMC (maybe mosaic trisomy 2) |
{0} provided by Dr. Wiezcorek, Essen, Germany |
| 02- O- p11.1/ 4-1 |
female/ adult |
PBL | n.a. | 47,XX,+mar[18]/ 46,XX[12] |
r(2)(::p11.1→q11.2::)[7]/ r(2;2)(::p11.1→q11.2: :p11.1→q11.2::)[2] FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
healthy female infertility | {41} case 5 {54} case 2-2 |
| 02- O- p11.1/ 5-1 |
female/ 35y |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[17]/ 46,XX[26] |
min(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB aCGH: 91.27-99.97 |
cenM subcenM; aCGH |
healthy female without clinical signs apart from fertility problems (ICSI planned). | {54} case 2-3 |
| 02- O- p11.1/ 5-2 |
female/ prenatal |
PBL (EKF- cellbank) |
n.a. | 47,XX,+mar[15%]/ 46,XX[85%] |
min or r(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
AMA; healthy female child born; normal at 1 year | {0} provided by Dr. Morlot, Hannover, Germany |
| 02- O- p11.1/ 5-3 |
female/ 25y |
PBL | n.a. | 47,XX,+mar[13]/ 46,XX[17] |
min(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
healthy female, infertility | {54} case 2-4 |
| 02- O- p11.1/ 5-4 |
male/ 34y |
PBL | n.a. | 47,XY,+mar[5%]/ 46,XY[95%] |
min(2)(:p11.1→q11.2:) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
healthy male, infertility | {0} provided by Dr. Cramer, Essen, Germany |
| 02- O- p11.1/ 6-1 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[15%]/ 46,XY[85%] |
min(2)(:q11.2→p11: :p10→q11.2:) or min(2)(:q11→p11: :p11→q11.2:) FISH-data: RP11-708D7: 95.0 MB aCGH - non euchromatin |
cenM subcenM aCGH |
AMA; normal sonography. Healthy child born |
{0} provided by Dr. Barbi, Ulm, Germany |
| 02-O- p11.1/ 7-1 |
male/ adult |
PBL | n.a. | 47,XY,+mar[17]/ 46,XY[8] in buccal mucosa sSMC in 202/300 cells |
mar(2)(:p11.1→q11.2:) array-data: 95.426.792-99.991.924 bp |
aCGH |
repeated abortions in partnership. otherwise healthy |
{0} case 2-5 |
|
***
02-O-p11.1/ 8-1 |
male/ prenatal |
AF | mat (90%) |
47,XY,+mar[12]/ 46,XY[4] |
min(2)(:p11.1→q21.1:) array-data: bp in 2q 103,644,883 |
aCGH ceps |
AMA, mother
normal |
{0}
provided from Portugal |
| 02-O- p10/ 1-1 |
female/ prenatal |
AF cord blood |
de novo |
47,XX,+mar[17]/ 46,XX[77] (in chord blood 44% with sSMC) |
r(2)(::p10→q11.2::) FISH-data: RP11-708D7: 95.0 MB |
cenM subcenM |
Amniocentesis due to advanced
maternal age; growth delay during
pregnancy, at birth and at 16m; all values
always along the 10th centile: apart from
that normal child.
|
{7} |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding and final FISH result | test methods |
clinical
symptoms |
Reference |
|
02- O- IMB- 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 |
| 02- CO- 1 |
male/ 30y |
PBL | de novo | 47,XY,+mar[100%] | r(2) | all centromeric probes | healthy, 2 children | {5} case 9 |
| 02- CO- 2 |
female/ prenatal |
AF | de novo | 47,XX,+mar[15]/ 46,XX[55] in PBL sSMC in 50% |
mar(2) | all centromeric probes | AMA normal
child born. Healthy at 2y |
{20} case 1 |
| 02- CO- 3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[14]/ 46,XY[16] in PBL sSMC in 73% |
mar(2) | all centromeric probes | AMA; normal child born. Healthy at 2y | {20} case 2 |
| 02- CO- 4 |
female/ prenatal |
AF | maternal | 47,XX,+mar[18]/ 46,XX[12] |
mar(2) | all centromeric probes | No information on pregnancy - mother healthy | {21} 1 case |
02- CO- 5 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%]/ 46[?%] |
r(2) | M-FISH, wcp2, cep 2 | abnormal
maternal serum screening; normal in US, born
healthy |
{23} case 13 |
| 02- CO- 6 |
female/ prenatal |
AF PBL |
de novo | 47,XX,+mar[15]/ 46,XX[55] in PBL sSMC in 50% of cells |
mar(2) | all cep probes | AMA with positive serum screening. Healthy child born; normal at 2y | {25} case 1 |
| 02- CO- 7 |
male/ prenatal |
AF PBL |
de novo | 47,XX,+mar[14]/ 46,XX[16] in PBL sSMC in 73% of cells |
mar(2) | all wcp probes | AMA; healthy child born; normal at 2y | {25} case 2 |
| 02- CO- 8 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%] | r(2) | n.a. | normal sonography | {46} 1 case |
| 02- CO- 9 |
n.a./ prenatal |
AF | de novo | 47,+mar[?%] | min(2) | n.a. | normal sonography | {46} 1 case |