 |
 |
- CHROMOSOME 1 -
| Cases without clinical findings |
| Cases
with clinical findings |
|
most
common clinical
findings acc to Orphanet (variable clinical
features)
- DD =
developmental delay
(including
intellectual
disability)
- growth retardation - microcephaly - DYS = dysmorphic facial features - also possible: cancer predisposition (from this page) - theoretically to be expected: 1p36.3 microdeletion syndrome in case deletion in 1p36.3 |
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
clinical
symptoms |
Reference |
|
| RC/O- 01- p/ 1-1 |
- |
- |
- |
-
|
- |
- |
{}
|
|
| case no. |
gender/ age at diagnosis |
studied material |
de novo/ inherited |
karyotype |
test methods |
general clinical
symptoms |
Reference |
|
| RC/W- 01- p3?6.3q4?4/ 1-1 |
female/ 3m |
PBL
|
?dn |
46,XX,r(1)(p3?6.3q4?4)[71]/ 46,XX[7] dynamic mosaicism genomic imbalance reported: "10% of chr. 1 lost in RC" |
GTG |
DD, microcephaly, growth retardation,
DYS, NHL, leiomyoma |
{1, case
RC1-1; 2; 3; 4} |
|
| RC/W- 01- p3?6.3q4?4/ 1-2 |
female/ 12.5y |
PBL BM |
?dn |
46,XX,r(1)(p36.?3q4?4) |
GTG |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC1-6; 9; 10} |
|
| RC/W- 01- p3?6.3q4?4/ 1-3 |
female/ 2y |
PBL skin-fibros |
?dn |
46,XX,r(1)(p36.?3q4?4) dynamic mosaicism genomic imbalance reported: subtelomeric probes of chr. 1 lost in RC PBL: 46,XX,r(1)(p36.3q44)/ r-var[2/80] |
GTG FISH |
DD, microcephaly, growth retardation,
DYS |
{1, case
RC1-7; 11} |
|
| RC/W- 01- p36.33q44/ 1-1 |
female/ ~3y |
PBL
|
?dn |
46,XX,r(1)(p36.33q44) |
GTG |
DD, microcephaly, DYS, growth
retardation |
{1 case
RC1-2; 5} |
|
| RC/W- 01- p36.33q44/ 1-2 |
female/ 9y |
PBL skin-fibros |
dn |
46,XX,r(1)(p36.33q44) dynamic mosaicism |
GTG |
DD, microcephaly, growth retardation,
DYS, AML |
{1 case
RC1-3; 6} |
|
| RC/W- 01- p36.33q44/ 1-3 |
female/ ~4y |
PBL skin-fibros |
dn |
46,XX,r(1)(p36.33q44) dynamic mosaicism PBL: 46,XX,r(1)[80]/46,XX[10]/ r-var[10] fibros: 46,XX,r(1)[28]/46,XX[2] |
GTG |
DD, microcephaly, DYS, growth
retardation |
{1 case
RC1-4; 7} |
|
| RC/W- 01- p36.33q44/ 1-4 |
female/ 2.3y |
umbilcal cord
fibros PBL |
?dn |
46,XX,r(1)(p36.33q44) dynamic mosaicism |
GTG |
DD, microcephaly, DYS, growth
retardation |
{1 case
RC1-5; 8} |
|
| RC/W- 01- p36.33q44/ 1-5 |
male/ n.a. |
PBL
|
?dn |
46,XY,r(1)(p36.33q44) dynamic mosaicism: 46,XY,r(1)[12]/46,XY[8] acc. to aCGH at 1pter 0.5Mb and at 1qter 2.8 Mb loss |
GTG aCGH OGM |
DD, microcephaly, DYS, growth
retardation, childhood ALL |
{626, case
FQR1-P} |
|
| RC/W- 01- p36.33q43/ 1-1 |
male/ 3y |
amnion PBL |
dn |
46,XY,r(1)(p36.33q43) dynamic mosaicism loss in 1qter (hg19): ~6Mb PBL: 46,XY,r(1)[10]/ 45,XY,-1[5] |
GTG FISH aCGH |
DD, microcephaly, DYS, growth retardation, brain tumor |
{1 case
RC1-8; 12} |
|