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- CHROMOSOME #13 -
UNCLEAR
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(13)mat | UPD(13)pat | UPD(13)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 |
| 13- U- 1 |
see 13-N-qt21/1-2 | |||||||
| 13- U- 2 |
male/ 1w |
PBL | de novo | 47,XY,inv
dup(13)(qter→q14.1:: q14.1→qter), +mar1[75%]/ 47,XY,inv dup(13)(qter→q14::q14→qter), +mar2[25%] |
mar1 = r(13)(::p13→q14.1::) mar2 = r(13)' (::p13→q14.1: :p13→q14.1::) |
RB1 probe; probe in 13q32-q33; cep13/21 | see below | {5; 12; 25} {8} case 13a |
| normal birth and delivery; weight at 25. centile, flat philtrum, slightly protuberant ears, capillary hemangiomas on forearm, hypospadias, hypotonic; at 4m HC at 25. centile, length at 75. centile, interpupillary distance at 85. centile; bilateral congenital glaucoma, bilateral retinoblastoma, no hearing at right ear, DD at 17m | ||||||||
| 13- U- 3 |
see mult 2-2 | |||||||
| 13- U- 4 |
chimera/ prenatal |
skin fibroblasts | maternal mother has 48,XX,+mar 2x |
chi46,XYpat[18]/ 47,XX,+mar1[8] | inv dup(13) | FISH - probes not specified | Twin A - placenta grossly enlarged and cystic, low amniocytes fluid, poor growth; at 15 w spontaneous abortion; second twin was normal, but also aborted. | {1} |
| 13- U- 5 to 6 |
male and female/ n.a. |
n.a. | de novo | 47,+mar[100%] | mar(13) | wcp13 | n.a. | {186} cases 23-24 |
| 13- U- 7 |
male/ child |
n.a. | n.a. | 47,XY,+mar[40]/ 46,XY[10 |
min(13)(pter→q12.1:) | cenM; subcenM | n.a. | {0} case provided from Israel |
| 13- U- 8 |
see 13-Uc-2 | |||||||
| 13- U- 9 |
see mult 2-26 | |||||||
| 13- U- 10 |
see 13-Ud-1 | |||||||
| 13- U- 11 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] |
mar(13) |
wcp probes | no info available | {45} 1 case |
| 13- U- 12 |
see 13-Ud-2 see +21-13-2 |
|||||||
| 13- U- 13 |
female/ prenatal |
AF | de novo | 47,XX,+mar[100%] | min(13)(:p12→q12.1:)[3]/r(13)(::p12→q12.1::)[7] aCGH: no euchromatin detected |
cenM,
subcenM aCGH |
no info available | {0} provided from Germany |
| 13- U- 14 |
see 13-Uc-3 | |||||||
| 13- U- 15 |
female/ prenatal |
CH; AF | n.a. | CH:
47,XX,+13[12]/ 47,XX,+mar[8]/ 46,XX[30] in AF: 47,XX,+13[70%]/ 46,XX[30%] |
inv dup(13)(q12.11) | subcenM | sonographic abnormalities pointing towards trisomy 13; TOP | {0} provided from Greece |
| 13- U- 16 |
see 13-Uc-4 | |||||||
| 13- U- 17 |
see 13-Uc-5 | |||||||
| 13- U- 18 |
male/ prenatal |
?AF | n.a. | 45,XY,-13[25]/
46,XY,r(13)[18]/ 46,XY,-13,+mar[7] |
n.a. | n.a. | TOP | {73} case 2 |
| 13- U- 19 |
female/ 2y |
PBL | n.a. | 47,XX,+del(13)(q14.3)[25]/ 47,XX,+13[7] |
del(13)(q14.3) | aCGH | Pätau syndrome |
{75} |
| 13- U- 20 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[100%] |
inv
dup(13)(q12.12)* arr[hg19] 13q11q12.12(19,436,286–25,319,733)×3 data unclear |
aCGH | no info |
{78}
case 3 |
| 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 |
| 13- Uc- 1 |
female/ 29y |
PBL | n.a. | 46,XX, der(15)t(13;15)(q12.1?3;p13), inv dup(13)(q12.1?3) |
subcenM | infertile | {0} provided from Germany | |
| 13- Uc- 2 |
male/ 6y |
PBL | maternal balanced translocation |
47,XY,+mar[100%] | der(13)t(8;13) (p23.1;q12.11) array-CGH: chr. 8: 0-7.09 MB chr. 13:17.92-21.81 MB |
cenM; subcenM, midi, subtel 8p, aCGH | MR, general DD, severe retardation in language development; no family history; 6 healthy sisters and brothers - one of the sisters also with same sSMC | {53} case Sc-1, {54} |
| 13- Uc- 3 |
female/ prenatal |
AF | maternal balanced translocation |
47,XX,+mar[100%] |
der(13)t(4;13)(q31.3;q13) | n.a. MLPA | sonographic abnormalities (polyhydramnion, unilateral hydrothorax) | {47} case 7; {54} |
| 13- Uc- 4 |
female/ newborn |
PBL | n.a. | 47,XX,+mar[100%] |
der(13)t(1;13)(q32;q12) array-CGH: chr. 1: 208.03 to qter chr. 13: pter to 24.40 Mb |
aCGH | different health problems and DD | {54} |
| 13- Uc- 5 |
n.a./ prenatal |
fetus | n.a. | 47,XX,+mar[100%] |
der(13)t(13;20)(q11;p12.1) | aCGH | early pregnancy loss | {60} 1 case |
| 13- Uc- 6 |
male/ 12y |
PBL | maternal balanced translocation |
47,XY,+mar[100%] | der(13)t(8;13) (p23;q14) |
n.a. | MR, general DD |
{62} |
| 13- Uc- 7 |
male/ newborn |
PBL | maternal balanced translocation |
47,XY,+mar[100%] | der(13)t(13;17) (q14;p13) |
n.a. | MR, general DD; DYS |
{64} case
3; 70 |
| 13- Uc- 8 |
female/ newborn |
PBL | maternal balanced translocation |
47,XX,+mar[100%] | der(13)t(13;17) (q14;p13) |
n.a. | MR, general DD; DYS |
{68} |
| 13- Uc- 9 |
male/ 3y |
PBL | maternal balanced translocation |
47,XY,+mar[100%] | der(13)t(13;22) (q12;q13) |
n.a. | MR, general DD; DYS, seizures |
{65} |
| 13- Uc- 10 |
male/ newborn |
PBL | maternal balanced translocation |
47,XY,+mar[100%] | der(13)t(3;13) (q24;q14) |
n.a. | MR, general DD; DYS |
{66} |
| 13- Uc- 11 |
female/ newborn |
PBL | maternal balanced translocation |
47,XX,+mar[100%] | der(13)t(4;13) (q33;q14) |
n.a. | MR, general DD; DYS |
{69} |
| 13- Uc- 12 |
female/ 2y |
PBL | maternal balanced translocation |
47,XX,+mar[100%] | der(13)t(6;13) (q2?6;q1?3) |
n.a. | MR, general DD; DYS |
{32} |
| 13- Uc- 13 |
female/ newborn |
PBL | maternal balanced translocation |
47,XX,+mar[100%] | der(13)t(13;16) (q33;q24) |
n.a. | MR, general DD; DYS |
{71} |
| 13- Uc- 14 |
n.a./ newborn |
PBL | maternal balanced translocation |
47,XN,+mar[100%] | der(13)t(10;13)(q26.3;q12.13) |
n.a. | n.a. |
{72} case
P14 |
| 13- Uc- 15 |
male/ prenatal |
AF | maternal balanced translocation |
47,XY,t(5;13)(p15;q21), +mar[100%] | der(13)t(5;13)(p15;q21) |
n.a. | n.a. |
{76} |
| 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 |
| 13- Ud- 1 |
male/ 2y |
PBL | de novo | 48,XY,+mar1,+mar2[20 | min(13)(qter→q33.3: :p12→q12.12:) mar 2 not defined |
aCGH, BACs acc. to {28} | see below | {28} case 2 |
| moderate global DD, bilateral anterior segment dysgenesis of the eye in the form of the Axenfeld-Rieger anomaly, macrocephaly, past history of bilateral inguinal hernias, and several depigmented maculae. An MRI was significant for a short, thick corpus callosum, prominent perivascular spaces with thinning of the gray matter, and an enlarged posterior fossa. | ||||||||
| 13- Ud- 2 |
male/ adult |
PBL | n.a. | 48,XY,+21,+mar[1]/ 47,XY,+21[29] | r(13)(::p1?2→q1?3::)[1]/ der(13)(pter→q?12.11: :p11.1→q1?3: :q11.1→p1?1.2:)[2] |
cenM, subcenM | Down syndrome | {0} provided from Croatia |
| 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 |
| 13- Uu- 1 |
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