ChromosOmics - Database

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                                                  -  CHROMOSOME #11 -                                                 
ABNORMAL
Cases with clinical findings (W)

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-
W-
p12/
1-1		 n.a./
postnatal?		 AF de novo
 47,XN,+mar[74%]/
46,XN[26%]		 mar(11)(:p12→q11:)
aCGH break in hg19: 42,922,228
 aCGH n.a. {46} case P10
***
11-
W-
p11.2/
1-1		 female/
postnatal?		 PBL? n.a. 47,XX,+mar[53%]/
46,XX[47%]		 mar(11)(:p11.2→q11:)
 arr[hg19] 11p12~11.2(42,922,228_
50,768,675)x3
 aCGH abnormal {31} case 29361
11-
W-
p11.2/
1-2		 male/
prenatal		 fetal tissue n.a. 47,XY,+mar[77%]/
46,XY[23%]		 mar(11)(:p11.2→q11.1:) cenM; subcenM missed abortion in 7+1 week of gestation {47} case 12

11-
W-
p11.12/
1-1
°°°
 male/
3y		 PBL de novo 47,XY,+mar [33%]/ 46,XY[67%] min(11)(:p12→q11:)
40.19-54.70 MB		 cenM; subcenM
aCGH		 see below {36} case Sm-5
Child born after normal pregnancy. At birth normal values and no signs of dysmorphism, however, psychomotor developmental delay. Walking with 20m, speech from age of 5y; at 18y speech almost normal. Muscular hypotonia. Face different from that of one brother and one sister. Dandy Walker brain abnormality acc. to MRT.
11-
W-
p11.12/
2-1

n.a/
postnatal		 PBL de novo 47,+mar [14%]/
46[86%]		 r(11)(::p11.12→q12.1::)*
size in p-arm 0.2 MB and in q-arm 2.3 MB		 n.a.; subcenM with 3 BACs Hypotonia; gross motor delay; seizures; macrocephaly; intermittent exotropia {19} case 13

11-
W-
p11.12/
3-1
°°°
 female/
13y		 PBL mat
47,XX,+mar[70%]/
46,XX[30%]		 r(11)(::p11.12→q13.1::)[6]/
r(11;11)(::p11.12→q13.1:
:p11.12→q13.1::)[3]/
min(11)(:p11.12→q13.1:)[4]
50.47-65.02 MB		 midi subcenM
aCGH; UPD-test		 at 13 years: facial DYS, strabismus, ptosis, discreteMR and DD. However, mother with 36 years: No apparent MR. Only congenital cardiopathy (corrected with surgery) {47} case 15
11-
W-
p11.12/
3-2		 male/
postnatal		 PBL de novo 47,XY,+mar[86]/
46,XY[14]		 r(11)(::p11.12→q13.1::)
~1.5 MB in p and ~10.04 MB in q in euchromatin		 pericentric BAC-set twin pregnancy - other twin normal; at birth all values at 3rd centile; at 15 months normal growth parameters; but psychomotor retardation and dysmorph {39} case 5
11-
W-
p11.12/
4-1

male/
prenatal		 AF de nov 47,XY,+mar[100%] min(11)(:p11.2→q11:
:q11→p11.2:)		 cenM; subcenM; UPD-test AMA; child spontaneously aborted 22 week of gestation {47} case 17

W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
11-
W-
IMB-
p12/
1-1
°°°
 male/
53y 		PBL n.a. 46,XY,dup(11)(p12p12) n.a. mild to moderate MR. short stature, discrete minor anomalies {29}
11-
W-
IMB-
p12/
2-1
°°°
 male/
newborn 		PBL mat 46,XY,dup(11)(p12p11.2)
arr[hg19] 40,231,033_50,762,504
 		aCGH DYS, DD, mother considered as normal {48}
11-
W-
IMB-
p11.2/
1-1
°°°
 male/
5m 		PBL maternal
(balanced) 		46,XY,ins(11)(11;11)(q14.5p14.1p11.2) n.a. macular dysfunction, cleft lip and palate, and DD {22}
11-
W-
IMB-
p11.2/
2-1
°°°
female/
15y 		PBL de novo 46,XX,dup(11)(p11.2p11.1)
BAC-FISH duplication size ~6MB 		wcp 11, BACs normal child apart from isolated learning disability, particularly dyscalculia {27}
***
11-
W-
IMB-
q11/
1-1
°°°
 male/
5m 		PBL n.a. 46,XY,dup(11)(q11q13.3)[29]/46,XY[6]
aCGH [hg18]: 56,000,000-78,750,000
locus specific probes
aCGH
 		multiple craniosynostoses, congenital heart defect and DD {23}
11-
W-
IMB-
q11/
2-1
°°°
 male/
postnatal 		PBL
de novo 		46,XY,dup(11)(q12.1q13.3)[53%]/ 46,XY[47%] aCGH DYS {40} case 3

W-cases with unclear/insufficient characterization of the sSMC (CW)

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-
CW-
1		 female/
4y		 PBL de novo 47,XX,+mar[?]/
46,XX[?]		 min(11) FISH probe (D11Z1) see below {4} case 7
born by cesarean section in gestational week 30; weight: 1250g; length 40cm; head circ.: 27,5cm - i.e. normal for gest. age; micrognathia; low-set ears; motor and mental development retarded. At age of 4.8y body measurements at 3rd percentile; minor hypertelorism; epicanthus; broad nasal bridge; long philtrum, carious teeth
11-
CW-
2		 male/
1. prenatal
2. at birth
3. 9m
1. AF;
2. PBL
3. Fibroblasts		 n.a. 1. 47,XY,+mar[52%]/46,XY[48%]
2. 46,XY [200]
3. 47,XY,+mar[36%]/46,XY[64%]		 r(11) telomeric; all centromeric probes in an aCGH DD and moderately retarded at age of 4y; at birth: cleft soft palate, VSD, wet lung; hypertonia and short statures at age of 7m; minor dysmorphic features {5} case 7
11-
CW-
3		 male/
child		 PBL de novo 48,XY,+mar1,+mar2[?]/
47,XY,+mar1[?]/
47,XY,+mar2[?]/
46,XY[?]		 mar 1: mar(11)
mar2: ?		 different cep-probes mild psychomotor delay {14} case 4
11-
CW-
4
 		female/
4y 		PBL de novo 47,XY,+mar[70%]/ 46,XY[30%] mar(11) - size 5.9 Mb aCGH intellectually disbaility, mild dysmporphism, macrocephaly {34}