ChromosOmics - Database

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                                                  -  CHROMOSOME #11 -                                                 
UNCLEAR
 
Cases without clinical findings
 Similar imbalances – no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases without clear clinical correlation
 Cases with discontinous sSMC
Cases with complex sSMC
 Cases with UPD and sSMC
Cases with neocentromeres
 Similar imbalances - no sSMC
Tumor
 DISCLAIMER
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(11)mat UPD(11)pat UPD(11)mat or pat

Cases with unclear clinical correlation (U)

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. {47} case 24
11-
U-
8		 n.a./
prenatal		 AF n.a. 47,+mar(11)[70%]/
46[30%]		 min(11)(:p11.1→q11:) cenM; subcenM n.a. {47} case 25
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 {47} case 26
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. {47} case 27
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		 {47} case 30
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 {47} case 33
11-
U-
20		 male/
prenatal		 AF n.a. 47,XY,+mar[2]/
46,XY[48]		 min(11)(:p11.11→q11:) cenM; subcenM AMA {47} case 34
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. {47} case 35
11-
U-
22		 female/
prenatal		 AF n.a. 47,XX,+mar[38]/
46,XX[12]		 min(11)(:p11.11→q11:) cenM; subcenM AMA {47} case 36
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}

Cases with complex sSMC (Uc)

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 {47} case 39
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}

Cases with discontinous sSMC (Ud)

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]
-
 -
 -
 -
 -
 -
 -
 -
 -

Cases with UPD (Uu)

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 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-