ChromosOmics - Database

Icon by Leon Liehr                   

                                                  -  CHROMOSOME #18 -                                                 
NORMAL

Cases
without clinical findings
 		Similar imbalances –
no sSMC
Cases with clinical findings
 		Similar imbalances – no sSMC
Cases with isochromosome 18p
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(18)mat UPD(18)pat UPD(18)mat or pat

Cases without clinical findings (O)

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
18-
O-
p11.22/
1-1		 female/
prenatal		 AF
PBL		 n.a. AF: 47,XX,+mar[35%]/
46,XX[65%]
PBL: 47,XX,+mar[4]/
46,XX[11]		 min(18)(:p11.22→q11.1:)[10]/
min(18)(:p11.22→q11.1:
:q11.1→p11.22:)[1]
FISH-data: RP11-151D11(13.08MB) on sSMC		 cenM;
subcenM;		 AMA, ultrasound normal in week 19+3; normal child born and normal at 10 and 16m {0} provided from Germany
18-
O-
p11.21/
1-1		 female/
35y		 PBL n.a.
47,XX,+mar[23]/
46,XX[17]		 min(18)(:p11.21→q11.1:)
FISH-data: RP11-151D11(13.08MB) on sSMC
min(18)(:p11.21→q12.1:)
aCGH: 11.64-24.94 MB
?can be mosaic?		 cenM;
subcenM;
aCGH		 ICSI-patient of 36 years; primary sterility; she had a surgery at the age of 7 due to a artrial septal defect {1} case 27
{104} case 95
{0}
{158} case Sm-7
{171} case 18-1
18-
O-
p11.21/
1-2		 male/
6y		 PBL
(EKF-
cellbank)		 maternal
(mar in ~26%)
47,XY,+mar[21]/
46,XY[2]
12 years later mar only in 25/34		 FISH: min(18)(:p11.21→q11.1:)
array + FISH: min(18)(:p11.22→p11.21:)
FISH-data: RP11-151D11(13.08MB) on sSMC
array: 13.99MB - centromere		 cenM;
subcenM; aCGH		 normal healthy young man; mother healthy as well {88} case A; mother case B
{95} case 11
18-
O-
p11.21/
1-3		 female/
31y		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[26]/
46,XX[14]		 FISH: min(18)(:p11.21→q11.1:)
breakpoint in 18p between clone RP11-794M8 (13.03MB) and RP11-411B10 (13.99MB)		 cenM;
subcenM; BAC RP11-411B10		 normal healthy young woman {0} provided from Germany
18-
O-
p11.21/
1-4		 female/
adult		 PBL paternal 47,XX,+mar[80%]/
46,XX[20%]		 mar(18)(:p11.21→q11.1:)
size 1 MB		 subcenM with 3 BACs, aCGH difficulty conceiving; patient’s father normal ; patient delivered a normal daughter with sSMC {98} case 18
{171} case 18-2
18-
O-
p11.21/
1-5		 n.a./
prenatal		 AF de novo 47,+mar[100%] mar(18)(:p11.21→q11.1:)
size ~2.6MB = position 12.80 MB		 subcenM with 3 BACs, aCGH At 4 months normal (marker detected on amniocentesis for AMA {98} case 19
18-
O-
p11.21/
1-6		 female/
prenatal		 AF n.a. 47,XX,+mar[40%]/
46,XX[60%]		 min(18)(:p11.21→q11.1:)
FISH-data: RP11-151D11(13.08MB) on sSMC
in aCGH no euchromatin deteceted		 cenM;
subcenM		 AMA,  normal US, normal child born, normal at 1 y {149}
18-
O-
p11.21/
1-7		 female/
28y		 PBL paternal 47,XX,+mar[20]/
46,XX[10]		 min(18)(:p11.21→q11.1:)
 cenM, subcenM
normal female, infertile
 {0} provided from Germany
18-
O-
p11.21/
1-8		 female/
39y		 PBL n.a. 47,XX,+mar[35]/
46,XX[65]		 min(18)(:p11.21 or p11.1→q11.1:)
 cenM
normal but abortion with sSMC {0, 234} mother of case 4a and 4b
18-
O-
p11.21/
1-9		 female/
adult		 PBL n.a. 48,XX,+marx2[50]/
47,XX,+mar[50]		 mar(18)(:p11.21→q11.1:)
arr[GRCh38] 18p11.21p11.1(14,691,673_
21,219,789)x3
 SNP-array
 normal and detected due to fesus witth IUGR and karyotype  47,XX,+mar[22]
46,XX[20]
 {0} provided from USA
18-
O-
p11.21/
1-10		 female/
34y		 PBL n.a. 47,XX,+mar[8]/
46,XX[7]		 min(18)(:p11.21→q11.1:)
 cenM, subcenM
normal female, infertile
 {0} provided from Germany
18-
O-
p11.21/
2-1		 n.a./
newborn		 PBL paternal
49,+mar,+mar,+mar[?%]/
48,+mar,+mar[?%]/
47,+mar[?%]
mar(18)(:p11.1→q11.1:)x2, mar(18)(:p11.21→q11.1:)		 cenM;
subcenM		 multiple malformations,
died at 7th day of life;
Father clinically normal.		 {0} provided from Brasil
***
18-
O-
p11.21/
3-1
female/
1y		 PBL n.a. 47,XX,+mar[368]/
46,XX[123]		 r(18)(::p11.21→q11.2::)
FISH-data: breaks between RP11-431B10 / RP11-48I17; RP11-780G2 / RP11-198L17, i.e. 14,384,062 / 14,481,186 and 18,166,539 / 18,119,880		 FISH using cep and BACS normal at 1 y and 34 m apart from hemivertebrae and rib anomalies {141}
18-
O-
p11/
1-1		 male/
prenatal		 CH, AF, chord PBL de novo 47,XY,+mar/
46,XY
CH: mar in 18/26
AF: mar in 9/80
PBL. mar in 2/100		 r(18)(::p11→q11::) FISH with all available centromeric probes, wcp 18 CVS and AF due to AMA; normal child born at term {70} case 9
18-
O-
p11.1/
1-1		 female/
prenatal		 AF mat
(mar in 26%)		 47,XX,+mar[?%]/
46,XX[?%]
Interphase: 65% of 200 cells		 min(18)(:p11.1→q11.1:)* FISH with centromeric probes normal child born; normal at 6m {110}
18-
O-
p11.1/
2-1		 female/
adult		 PBL
(EKF-
cellbank)		 n.a. 47,XX,+mar[16]/
46,XX[14]		 min(18)(:p11.1→q11.1~11.2:)
RP11-10G8 present on sSMC		 cenM
subcenM		 infertile female {0} provided from Spain

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

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
18-
O-
IMB-
pter/
mult 		>20 patients with dup 18p and (almost) no symptoms {115} {100} 3 cases
{101}
{102} 2 cases
{103} 9 cases
{107} 1 case
{115}
18-
O-
IMB-
q11/
1-1 		male or female/
postnatal
PBL 		familial ins(11;18)(p15;q11q21) 46,der(11)(11pter→11p15::18q11→18q21:: 11p15→11qter) none one carrier normal, two carriers slightly MR {106}
18-
O-
IMB-
q11.2/
1-1 		n.a./
prenatal 		AF maternal ins(18)(p13.2q1.2q11.2) 46,der(18)(pter→p11.32::q12.2→q11.2: :p11.32→qter) MCB normal at age of three months {105}

O-cases with unclear/insufficient characterization of the sSMC (CO)

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
18-
CO-
1 		female/
prenatal 		AF/PBL de novo 47,XX,+mar[820]/
46,XX[180] 		min(18) all available centromeric probes AMA; newborn with alcohol abuses syndrome (low weight, DD, microcephaly, mitral stenosis) {23} case 2
18-
CO-
2
 		female/
28y 		PBL n.a. 47,XX,+mar[2]/
46,XX[98] 		r(18) all available centromeric probes Ring chr. detected due to transmission to clinically affected daughter with karyotype 46,XX,r(18) {29}
18-
CO-
3
 		female/
11y 		PBL de novo 47,XX,+mar[85%]/
46,XX[15%] 		r(18) FISH with all available centromeric probes normal at age of 12y apart from eventually familial short stature
{8} case 9
18-
CO-
4
 		-
 		-
 		-
 		-
 		-
 		-
 		-
 		-
18-
CO-
5
 		female/
prenatal
de novo 47,XX,+mar[6]/
46,XX[9] 		mar(18) wcp 18? AMA; normal sonography, normal at birth {86} case 66
18-
CO-
6
 		female/
adult		 PBL n.a. 47,XX,+mar[?%]/
46,XX[?%]		 min(18)
 		wcp 18? normal female; mar detected due to mar presence in unborn child. {86} mother of case 73
18-
CO-
7
 		see 18-Uc-6
18-
CO-
8
 		female/
adult		 PBL n.a. 47,XX,+mar[44]/
46,XX[6]		 r(18)
 		cep 18? normal female; mar detected due to mar presence in unborn child. {199} case 17