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- CHROMOSOME #18 -
NORMAL
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 |
| 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 of Drs. Prager and Junge, Dresden, 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 by Drs. Wagner and Stibbe, Hannover, 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%] |
mar(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] |
mar(18)(:p11.21→q11.1:) |
cenM, subcenM
|
normal female,
infertile |
{0} provided by Dr. Huhle,
Leipzig, Germany |
| 18- O- p11.21/ 1-8 |
female/ 39y |
PBL | paternal | 47,XX,+mar[35]/ 46,XX[65] |
mar(18)(:p11.21
or p11.1→q11.1:) |
cenM |
normal but abortion with sSMC | {0} provided from Serbia |
| 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 by N. Cacace, USA |
| 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 by Dr. Giorgio Paskulin, 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 by Reprogenet, Spain |
| 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} |
| 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 |