 |
 |
-
CHROMOSOME 7 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 07- cen+/ 1-1 to few |
7cen+ D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1) |
none |
{1, page 64} |
| 07- cen-/ 1-1 to few |
7cen- D7Z1 (in 7q11.1) or D7Z2 (in 7p11.1) |
none |
{1, page 64; 90} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 07- HHM- acro/ 1-1 |
ins(7;acro)(p13;acro) |
none |
{1; 9} |
| 07- HHM- acro/ 2-1 |
ins(7;acro)(q21.3~22.1;acro) |
none |
{1; 25}
|
| 07- HHM- Yq12/ 1-1 |
mos
45,X,der(7)t(Y;7)(p11.1~11.2;p22.3)/45,X |
Turner |
{11} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 07- EHM-del pterp22/ 1-1 |
del(7)(p22) |
none |
{1} |
| 07- EHM-del p33~34q35/ 1-1 |
del(7)(q33~34q35) |
none |
{0 26628} |
| 07- EHM-del q36.3qter/ 1-1 |
der(7)t(2;7)(p25.2;q36.3) size in 2p: 6.1 Mb size in 7q: 1.1 Mb |
minor
clinical signs |
{0 46677} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 07- EHM-dup pterp22.3/ 1-1 |
dup(7pterp22.3) |
none |
{1} |
| 07- EHM-dup p13p12.2/ 1-1 to 1-3 |
dup(7)(p13p12.2) |
mild
to moderate |
{1} |
| 07- EHM-dup p12.p11.2/ 1-1 |
dup(7)(p11.2p12) |
none
to mild to moderate in family |
{85} |
| 07- EHM-dup p11.2q11.22/ 1-1 to few |
sSMC(7) |
none |
{sSMC page} |
| 07- EHM-dup q31.31q31.33/ 1-1 |
dup(7)(q31.31q31.33) hg19: 118.601001-126.177044 Mb |
none |
{111} |
| 07- EHM-dup q32q36.1/ 1-1 |
dup(7)(q32q36.1) |
mild
to moderate |
{1} |