 |
 |
- CHROMOSOME 12 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: dermatological features (= dispigmentation incl. café-au-lait spots), micrognathia, congenital heart malformations, epilepsy |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 12- p13q24.3/ 1-1 |
male/ 27y |
PBL
|
?dn |
46,XY,r(12)(p13q24.3) dynamic mosaicism: 15% 46,XY,r(12)/46,XY |
GTG |
DD, microcephaly, dispigmentation, severe oligospermia |
{1, case
RC12-9; 263} |
|
| RC/O- 12- p13.3q24.33/ 1-1 |
male/ 35y |
PBL
|
?dn |
46,XY,r(12)(p13.3q24.33) dynamic mosaicism: 46,XY,r(12)/46,XY acc. to aCGH in 12qter ~1.85Mb loss |
GTG aCGH |
oligospermia |
{265}
|
|
| RC/O- 12- p13.3q24.33/ 1-2 |
male/ 37y |
PBL
|
?dn |
46,XY,r(12)(p13.3q24.33) dynamic mosaicism: 46,XY,r(12)[26]/46,XX[14] acc. to aCGH in 12qter ~1.9Mb los |
GTG aCGH |
oligospermia |
{1230}
|
|
| RC/O- 12- p13.3q24.33/ 2-1 |
female/ 29y |
PBL
|
?dn |
46,XX,r(12)(p13.3->q24.33: :q24.33->q24.33) dynamic mosaicism: 46,XXr(12)[96]/45,XX,-12[3]/46,XX,dr(12)[1] acc. to aCGH in 12qter 1.65 and ~3Mb loss in 12q24.33 with 1.5Mb present in between |
GTG aCGH |
normal with
repeated abortions |
{904}
|
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 12- p1?3q2?4/ 1-1 |
male/ 1y |
?PBL
|
?dn |
46,XY,r(12)(p1?3q2?4) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC12-2; 257, Boon pers. communication} |
|
| RC/W- 12- p1?3q2?4/ 1-2 |
male/ prenatal |
AF |
?dn |
46,XY,r(12)(p1?3q2?4) dynamic mosaicism: 46,XY,r(12)[8]/46,XY[92] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS; ?TOP |
{590, case
V-1} |
|
| RC/W- 12- p1?3q2?4/ 1-3 |
female/ ~2y |
PBL |
?dn |
46,XY,r(12)(p1?3q2?4), t(1;12)(q43;p11.2) |
GTG |
DD, microcephaly, growth
retardation, DYS |
{1444 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p1?3q2?4/ 1-4 |
female/ ~1y |
PBL |
?dn |
46,XX,r(12)(p1?3q2?4) |
GTG |
DD, microcephaly, growth
retardation, DYS |
{1446 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p1?3q2?4/ 1-5 |
male/ newborn |
PBL fibros |
?dn |
46,XY,r(12)(p1?3q2?4) dynamic mosaicism: PBL: 46,XY,r(12)[25]/46,XY[75] fibros: 46,XY,r(12)[3]/46,XY[97] |
GTG |
DD, microcephaly, micrognathia, growth retardation | {1448 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p1?3q2?4/ 1-6 |
n.a./ postnatal |
PBL |
?dn |
46,XN,r(12)(p1?3q2?4) |
n.a. |
heart defect |
{1449 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p1?3q2?4/ 1-7 |
male/ 7y |
PBL |
?dn |
46,XY,r(12)(p1?3q2?4) dynamic mosaicism: 46,XY,r(12)[73]/47,XY,dr(12)[2]/ 45,XY,-12[8] |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation | {1451, case 9 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p13q24/ 1-1 |
female/ 1y |
PBL
|
?dn |
46,XX,r(12)(p13q24) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC12-1; 256} |
|
| RC/W- 12- p13q24/ 1-2 |
female/ ~1y |
PBL
|
?dn |
46,XX,r(12)(p13q24) dynamic mosaicism: 46,XX,r(12)[92]/45,XX,-12[8] |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC12-3; 257} |
|
| RC/W- 12- p13q24/ 1-3 |
male/ 4y |
PBL, fibro |
?dn |
46,XY,r(12)(p13q24) dynamic mosaicism: 12% 46,XY,r(12)/45,XY,-12/46,XY,var(12) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC12-4; 258} |
|
| RC/W- 12- p13q24/ 1-4 |
female/ 15y |
PBL
|
?dn |
46,XX,r(12)(p13q24.33) dynamic mosaicism: 2% 46,XX,r(12)45,XX,-12 |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS |
{1, case
RC12-7; 261} |
|
| RC/W- 12- p13.2q24.33/ 1-1 |
female/ 4y |
PBL |
?dn |
46,XX,r(12)(p13.2q24.33) dynamic mosaicism: 46,XX,r(12)[166]/45,XX,-12[20]/46,XX,dr(12)[8]/47,XX,r(12)x2[3]/46,XX,var(12)[3] acc. to aCGH in 12pter ~3.6Mb loss and at 12qter 0.3MB loss |
GTG aCGH |
DD, DYS, dispigmentation |
{1220} |
|
| RC/W- 12- p13.3q24.3/ 1-1 |
male/ 19y |
PBL, fibro |
?dn |
46,XY,r(12)(p13.3q24.3) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS, dispigmentation |
{1, case
RC12-5; 259} |
|
| RC/W- 12- p13.3q24.3/ 1-2 |
female/ 5y |
PBL
|
dn |
46,XX,r(12)(p13.3q24.3) dynamic mosaicism: 34% 46,XX,r(12)/46,XX |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS, dispigmentation
uterine leiomyoma |
{1, case
RC12-6; 260} |
|
| RC/W- 12- p13.3q24.3/ 1-3 |
female/ ~1y |
PBL
|
dn |
46,XX,r(12)(p13.3q24.3) dynamic mosaicism: 34% 46,XX,r(12)[75]/46,XX[22]/45,XX,-12[3]/47,XX,r(12)x2[2]/46,XX,dr(12)[1] Subtelomer 12pter and 12qter absent |
GTG FISH |
DD |
{1447 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p13.3q24.3/ 1-4 |
female/ ~2.8y |
PBL
|
dn |
46,XX,r(12)(p13.3q24.3) |
GTG |
DD, microcephaly, growth retardation, DYS, dispigmentation | {1450 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p13.3q24.33/ 1-1 |
male/ 7y |
PBL
|
dn |
46,XY,r(12)(p13.3q24.33) dynamic mosaicism: 12% 46,XY,r(12)/45,XY,-12/47,XY,r(12),+r(12) |
GTG |
DD, microcephaly, micrognathia,
growth retardation, DYS, dispigmentation |
{1, case
RC12-8; 262} |
|
| RC/W- 12- p13.3q24.33/ 1-2 |
male/ ~1y |
PBL
|
?dn |
46,XY,r(12)(p13.3q24.33) dynamic mosaicism: 46,XY,r(12)/45,XY,-12 |
GTG |
DD, microcephaly, growth retardation, DYS | {1445 - provided by Dr. I. Lurie, Maryland, USA} | |
| RC/W- 12- p13.33q24.33/ 1-1 |
male/ 15y |
PBL
|
dn |
46,XY,r(12)(p13.32->p13.33::p13p13.33->q24.33) dynamic mosaicism: 6% 46,XY,r(12)/47,XY,r(12)x2/ 45,XY,-12 Subtelomer 12pter and 12qter absent acc. to aCGH in 12pter 1.6Mb loss and 3.2Mb gain and at 12qter 0.3MB loss |
GTG FISH aCGH |
DD, microcephaly, micrognathia,
growth retardation, DYS, dispigmentation. here Von Willebrand Factor gene associated with cryptogenic stroke involved in duplication |
{1, case
RC12-10; 264} |
|