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- CHROMOSOME #2 -
UNCLEAR
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- U- 1 |
male/ prenatal |
n.a. | n.a. | 47,XY,+mar[mos] | mar(2) | SKY | TOP | {17} |
| 02- U- 2 |
male/ prenatal |
AF | n.a. | 47,XY,+r[50%]/ 46,XY[50%] |
r(2)(::p11.1→q12~13::) | cenM; subcenM, MCB | TOP in week 22; no autopsy performed | {0} provided by Dr. Beudt, Frankfurt, Germany |
| 02- U- 3 |
male/ n.a. |
n.a. | n.a. | 47,XY,+mar
[42]/ 46,XY[58] |
inv dup(2)(:q11.2→p11.1: :p11.1→q11.2:) |
midi; subcenM | n.a. | {0} provided by Dr. N. Rubtsov, Novosibirsk, Russia |
| 02- U- 4 |
male prenatal |
AF, fetal blood, CH | de novo | 47,XY,+mar
[34]/ 46,XY[3] (AF) mosaic varies in AF, CH and blood between 0, 1.8, ~30, 40 and 92% of cells with sSMC |
r(2)(::p11.1→q12.3::) | FISH using different probes; subcenM- variant | Prenatal diagnosis due to advanced maternal age; TOP; in autopsy no malformations observed | {29} |
| 02- U- 5 |
n.a./ prenatal |
AF | de novo | 47,+mar [100%] | r(2)(::p11.1→q11.1::)* | n.a. | Normal sonography at ?18 weeks gestation; AMA | {32} case 6 |
| 02- U- 6 |
female/ prenatal |
AF | de novo | 47,XX,+mar[47]/ 46,XX[33] |
r(2)(::p11.2→q11.2::) aCGH: 96.12-99.12 |
cenM,
subcenM; aCGH |
reason for cytogenetics not known; TOP | {0} provided by Dr. A. Polityko, Minsk, Belarus |
| 02- U- 7 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[100] |
min(2)(:p11.1→q11.1:) | cenM, subcenM | TOP - no info available | {0} provided by Dr. C. Fuster, Spain |
| 02- U- 8 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[?%]/ 46,XX[?%] |
min(2) | SKY | AMA- no info available | {48} case F0425680 |
| 02- U- 9 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[10%]/ 46,XX[90%] |
min(2)(:p11.2→q11.1:) | cenM, subcenM | AMA, TOP |
{0} provided by Dr. Ana Barreta, Porto, Portugal |
| 02- U- 10 |
female/ 10y |
PBL | mat | 47,XX,+mar[100%] | mar(2)(:p11.1→q12.3:) aCGH (hg19): 95.53-108.08 MB |
aCGH | DD, short stature; also imb. in 18p | {56} case 12 |
| 02- U- 11 |
male/ 10y |
PBL | de novo | 47,XY,+mar[8]/ 46,XY[42] |
mar(2)(:p11.1→q12.1:) aCGH (hg19): 95.53-105.36 MB |
aCGH, FISH | premature, DD, ASD | {56} case 13 |
| 02- U- 12 |
male/ prenatal |
AF/ fetal blood | de novo | AF:
47,XY,+mar[16]/ 46,XY[15] fetal blood: 47,XY,+mar[10]/46,XY[20] |
mar(2)(:p12→q14.1:) aCGH (hg19): 78,08-116,080 Mb |
aCGH | AMA; normal child born; normal at 6 months | {57} case 15X0023 |
| 02- U- 13 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[7]/ 46,XY[23] |
min(2)(:p11.1→q11.2:) | cenM; subcenM | AMA; no further information available | {0} provided by Dr. du Bois, Böblingen, Germany |
| 02- U- 14 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[16]/ 46,XX[3] |
min(2)(:q11.1 or q11.2→q1?3:) | midi | AMA, n.a. |
{0} provided from Serbia |
| 02- U- 15 |
female/ prenatal |
AF | de novo | 47,XX,+mar[6]/ 46,XX[24] |
mar(2)(:p12→q13.2:) aCGH (hg19): 82947063- 104957361 |
aCGH | oligohydramnio, TOP |
{61} case 2 |
| case
no. |
gender/ age at diagnosis |
studied material |
de
novo/ Inherited |
GTG-banding
and final result fo sSMC and grade of mosaicism |
test methods |
clinical
symptoms |
Reference |
|
02- Uc- 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- Ud-1 |
female/ 2 y |
PBL | de novo | 48,XX,+marx2[37%], 47,XX,+mar[51%], 46,XX[12%] |
see below | NGS | modest global DD | {59} case sSMC2a |
| seq[GRCh37]
+min(2)(:q11.1→q11.2::q12.2::q11.2→q12.1:) chr2:g.[cen_95326241~_98026880~::98058590~_102613162::106555287::TA::106555288_107260062~::chr2:102613163~ _102867861~]add |
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| 02- Ud-2 |
female/ prenatal | fibroblasts | de novo | 47,XX,+r[70%], 46,XX[30%] |
see below | NGS UPD test |
multiple malformations TOP |
{59} case
sSMC2b |
| seq[GRCh37]
+r(2)(::q11.1→q11.2::q32.2→q36.3::)chr2:g.[cen_95326171_97556545: :191545235_230273236inv]addmaternal hetero/ isodisomy at 2p24.3p14, 2q11.2q12.3 and 2q36.3q37.2 |
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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 |
|
02- Uu- 1 |
- |
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