 |
 |
- CHROMOSOME 8 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
most
common clinical
findings acc to
this page* (variable clinical
features)
- DD = developmental delay (including intellectual disability) - growth retardation - microcephaly - DYS = dysmorphic facial features * Orphanet data is not available as information on supernumerary marker chromosome 8 is listed there) |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 08- p2?3q2?4/ 1-1 |
male/ 7y |
PBL
|
?dn |
46,XY,r(8)(p2?3q2?4) |
GTG |
microcephaly, DYS, normal intelligence |
{1, case
RC8-3; 172} |
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 08- p2?3q2?4/ 1-1 |
male/ 8y |
PBL
|
?dn |
46,XY,r(8)(p2?3q2?4) |
GTG | DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-1; 170} |
|
| RC/W- 08- p2?3q2?4/ 1-1 |
male/ 5.5y |
PBL
|
dn |
46,XY,r(8)(p2?3q2?4) |
GTG |
DD, microcephaly, growth retardation, DYS |
{1, case
RC8-2; 171} |
|
| RC/W- 08- p2?3q2?4/ 1-3 |
female/ ~2y |
PBL
|
?dn |
46,XX,r(8)(p2?3q2?4) |
GTG |
DD, microcephaly, growth retardation, DYS |
{1, case
RC8-4; 173} |
|
| RC/W- 08- p2?3q2?4/ 1-4 |
female/ 13y |
PBL
|
?dn |
46,XX,inv(7)(p22q11.23), r(8)(p2?3q2?4) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-5; 174} |
|
| RC/W- 08- p2?3q2?4/ 1-5 |
male/ 0.3y |
PBL
|
dn |
46,XY,r(8)(p2?3q2?4) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{562}
|
|
| RC/W- 08- p2?3q2?4/ 1-6 |
male/ prenatal |
AF
|
?dn |
46,XY,r(8)(p2?3q2?4) dynamic mosaicism: - no details provided |
GTG |
heart defect, DYS |
{1371, 1
case - provided by Dr. I. Lurie, Maryland,
USA} |
|
| RC/W- 08- p23q24/ 1-1 |
female/ ~2.8y |
PBL
|
?dn |
46,XX,r(8)(p23q24) dynamic mosaicism: 47,XX,r(8)×2[?3] for 46,XX,r(8)[12],45,XX,-8[21] |
GTG |
DD, DYS |
{906}
|
|
| RC/W- 08- p23q24.1/ 1-1 |
male/ 12y |
PBL
|
dn |
46,XY,r(8)(p23q24.1) dynamic mosaicism: ~30% |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-6; 175} |
|
| RC/W- 08- p23.3q24.3/ 1-1a and 1-1b |
male/ 6.5y |
PBL
|
mat |
46,XY,r(8)(p23.3q24.3) dynamic mosaicism: ~8% 46,XY,r(8)(p23q24.3)[24]/45,XY,-8[2] Subtelomer 8pter and 8qter present |
GTG FISH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-7 and RC8-8; 176} |
|
| RC/W- 08- p23.3q24.3/ 2-1 |
male/ 20y |
PBL
|
dn |
46,XY,r(8)(p23.3q24.3) dynamic mosaicism: 90% 46,XY,r(8)/46,XY Subtelomer 8pter and 8qter absent |
GTG FISH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-9; 177} |
|
| RC/W- 08- p23.2q24.3/ 1-1 |
male/ 16y |
PBL
|
dn |
46,XY,r(8)(p23.2q24.3) dynamic mosaicism: 46,XY,r(8)[42]/45,XY,-8[8] Subtelomer 8pter absent and 8qter present aCGH: 4.76Mb loss in 4pter |
GTG FISH aCGH |
mild DD, microcephaly, growth retardation, DYS |
{1370, case
3 - provided by Dr. I. Lurie, Maryland, USA} |
|
| RC/W- 08- p23.1q24.3/ 1-1 |
male/ 2.5y |
PBL
|
?dn |
46,XY,r(8)(:p23.1->p11.2::p23.1->p11.2
or p11.2->p23.1::p11.2->q24.3) dynamic mosaicism: 10%; 46,XY,r(8)(p23q24.3)[27]/45,XY,-8[3] acc. to aCGH loss in 8p at 8.1Mb and duplication in 8p23.1 to 8p11.2 from 12.5 to 39.6Mb |
GTG aCGH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC8-10; 178; 179; 553} |
|
| RC/W- 08- p23.1q11.1/ 1-1 |
female/ newborn |
PBL
|
?dn |
46,XX,r(8)(:p23.1->q11.1::q11.1->p23.1), der(8)t(8;9)(p23.1;q22.32) dynamic mosaicism: 46,XX,der(8),r(8)[70]/ 45,XX,der(8),-r(8)[10]/46,XX,+r(8)[1]/46,XX,der(8)t(8;?)[20] acc. to aCGH loss in 8p at 6.8Mb and duplication in 8p23.1 to 8p11.1 from 6.8 to 37.8Mb |
GTG FISH aCGH |
DD, growth retardation, DYS,
hypotonia |
{1372 -
provided by Dr. I. Lurie, Maryland, USA} |
|