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- CHROMOSOME #11 -
UNCLEAR
are based on the bias, that mainly
clinically aberrant cases are studied and reported
in literature!
| UPD (uniparental disomy) cases: | UPD(11)mat | UPD(11)pat | UPD(11)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 |
| 11- U- 1 |
see 11-Ud-1 | |||||||
| 11- U- 2 |
see mult 2-10 | |||||||
| 11- U- 3 |
male/ prenatal |
AF | de novo | 47,XY,+mar[31]/ 46,XY[5] |
r(11)(::p11→q12::) | n.a. | AMA, no ultrasound abnormalities; TOP | {12} case 4 |
| 11- U- 4 |
see mult 2-27 | |||||||
| 11- U- 5 |
n.a./ n.a. |
n.a. | n.a. | 47,+mar[?%] |
mar(11) | centromeric probes | no info available | {18} 1 case |
| 11- U- 6 |
see mult 2-28 | |||||||
| 11- U- 7 |
n.a./ prenatal |
AF | n.a. | 47,+mar(11)[50%]/ 46[50%] |
r(11)(::p11→q12::)[3]/ r(11;11)(::p11→q12: :p11→q12::)[2] |
cenM; subcenM | n.a. | {0} provided from Coimbra, Portugal |
| 11- U- 8 |
n.a./ prenatal |
AF | n.a. | 47,+mar(11)[70%]/ 46[30%] |
min(11)(:p11.1→q11:) | cenM; subcenM | n.a. | {0} provided from Coimbra, Portugal |
| 11- U- 9 |
see 11-O-p11.1/2-1 | |||||||
| 11- U- 10 |
female/ 6y |
PBL | n.a. | 47,XX,+mar[100%] | min(11)(:p11.1→q11:) | cep probes subcenM | DD | {0} case provided from Düsseldorf Germany |
| 11- U- 11 |
female/ prenatal |
AF | de novo | 47,XX,+mar[21]/ 46,XX[30] |
mar(11)(:p12→q11:) distal break at 43.085MB |
aCGH | n.a. | {0} case provided by Dr. Joleen Viront, Akron, OH, USA |
| 11- U- 12 |
see 11-Uc-1 | |||||||
| 11- U- 13 |
see 11-Uc-2 | |||||||
| 11- U- 14 |
male/ prenatal |
AF | de novo | 47,XY,+mar[10]/ 46,XY[5] |
mar(11) aCGH suggested a chr. 3 origin! |
aCGH, FISH | IUGR; spontaneous abortion in week 20 | {33} |
11- U- 15 °°°
|
female/ prenatal |
AF | de novo | 47,XX,+mar[60-90%]/ 46,XX[10-40%] |
min(11)(:p11.21→q13.1:) hg 19: 49.85-64.60Mb aCGH hg18: 48,191,873-?59,180,308 Mb |
cenM;
subcenM; aCGH |
see below | {35} case 1 |
| AMA, normal sonography; at birth weight: 25th centile, lenght < 3. centile, OFC 40. centile. VSD; later on good gain of weight and DD with muscular hypotpnia; large occiput, minor DYS | ||||||||
| 11- U- 16 |
male/ prenatal |
AF | de novo | 47,XY,+mar[15]/ 46,XY[17] |
min(11)(:p11.?1→q1?1:) | cenM; subcenM | AMA, no other info available |
{0} case provided from Portugal |
| 11- U- 17 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[94]/ 46,XX[53] |
min(11)(:p11.11→q12.3:) aCGH: 55.51-62,11 |
aCGH | AMA, TOP no other info available | {37} case 13 |
| 11- U- 18 |
female/ prenatal |
AF | de novo | 47,XX,+mar[33]/ 46,XX[25] |
min(11)(:p13→q12.1:) aCGH: 34.89-56,41 |
aCGH | AMA, n.a. | {41} case AF-11 |
| 11- U- 19 |
female/ prenatal |
AF | de novo | 47,XX,+mar[71]/ 46,XX[22] |
min(11)(:p11.1→q12.1:)[3]/ r(11)(::p11.2→q12.1::)[2]/ r(11;11)(::p11.2→q12.1: :p11.2→q12.1::)[3] |
cenM; subcenM | AMA, enhanced nuchal translusiency | {0} provided from Greece |
| 11- U- 20 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[2]/ 46,XY[48] |
min(11)(:p11.11→q11:) | cenM; subcenM | AMA | {0} provided from Portugal |
| 11- U- 21 |
male/ prenatal |
AF | n.a. | 47,XY,+mar[20%]/ 46,XY[80%] |
mar(11)(:p14.1→q12.1:) arr[hg19] 30,80-56,65 Mb |
cep; aCGH |
TOP; n.a. | {0} provided from Greece |
| 11- U- 22 |
female/ prenatal |
AF | n.a. | 47,XX,+mar[38]/ 46,XX[12] |
min(11)(:p11.11→q11:) | cenM; subcenM | AMA | {0} provided from Homburg, Germany |
| 11- U- 23 |
female/ prenatal |
AF | de novo |
47,XX,+mar[73]/ 46,XX[12] |
min(11)(:p12.1→q13.2:) aCGH: 55.08-66.49MB (hg19?) |
aCGH | TOP | {44} case 16/16 |
| 11- U- 24 |
male/ prenatal |
AF | de novo |
mos
47,XY,+mar[15%]/ 46,XY[85%] arr[hg19] 11p14q12.1(30,796,545_ 56,649,983)x3 |
min(11)(:p14→q12.1:) aCGH: 55.08-66.49MB (hg19?) |
aCGH | TOP | {49} |
| 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 |
| 11- Uc- 1 |
female/ prenatal |
AF | de novo | 47,XX,+mar[13]/ 46,XX[10] |
r(11)t(11;20)(::11p11.1→11q12.1: :20q13.1?2→q13.32::) |
midi, subcenM; UPD-test | AMA, no US-abnormalities, pregnancy continued - patient lost during follow-up | {0} provided from Kiel, Germany |
| 11- Uc- 2 |
male/ postnatal |
PBL | pat (balanced t(11;13)(q25;q14)) |
47,XY,t(11;13)(q25;q14),+mar | der(11)t(11;13)(q25;q14) | n.a. | MR and DD, DYS | {32; 38} |
| 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 |
| 11- Ud- 1 |
male/ 47y |
bone marrow | de novo acquired |
47,XY,+mar[18]/ 46,XY[2] |
r(11)(::p11.2→q13.1: :q14::) array-CGH: 42.07-60.60 MB r(11)(::p11.2→q12.3::q14::) |
midi; MCB; cenM; CGH; aCGH |
Atypical chronic myelogeneous leukemia (CML); sSMC only in bone marrow, not in peripheral blood | {0} {1} case 16 {2} {3} case 14 |
| 11- Ud- 2 |
male/ prenatal |
?? | de novo | 47,XY,+mar[13]/ 46,XY[1] AL 47,XY,+mar[31]/ 46,XY[3] CV |
see below | NGS | Ultrasound: very mild decrease in growth parameters, voluntary TOP | {45} case sSMC11 |
| seq[GRCh37]
r(11)(::p11.2→q12.1::q12.1→q12.1::p15.5→p15.5::p15.4→p15.4::p11.2→p11.2::q12.1→q12.1::) chr11:g[47963807_cen_57123447inv::34232223_34232229::34232469_34232519::CACAGCTATGAGA::57123447_chr11:57150478: :TTTCCATTCCA::chr11:1791532_chr11:1831828::chr11:3681909_chr11:3826675::AGAGATGGAGCAAGCAATAGCAACTGCATA: :chr11:45940475_45998725::CACTGTAAATTGGG::47277430_47429775inv::chr11:57151476_57152981inv] chr11:g[57452438_57453327: :57150508_57151481inv::57451445_57452437::57276408_57278946::18428101_18558839::57278947_57297284inv] |
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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 |
| 11- Uu- 1 |
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