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 |
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CHROMOSOME 17 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
| case no. |
(molecular) cytogenetic result |
clinical symptoms |
reference |
| 17- cen+/ 1-1 to few |
17cen+ D17Z1 in 17p11.1 |
none |
{1, pages 74-75} |
| 17- cen-/ 1-1 to few |
17cen- D17Z1 in 17p11.1 absence of D17Z1 in 0.11% of general population |
none |
{1, pages 74-75} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 17- HHM- acro/ 1-1 to many |
der(17)t(17;acro)(p13.33;p11.2) see below - here subtel 17p region may be lost |
none may be mixed up with fragile site in 17p! |
{1; 28-30; 76} |
| 17- HHM- acro/ 2-1 |
der(17)t(17;acro)(q25.3;p11.2) |
none |
98 (case 17ps/qs 2) |
| 17- HHM- Xp11.1q11.1/ 1-1 |
ins(1;X)(q10;p11.1q11.1), ins(12;X)(q10;p11.1q11.1), ins(17;X)(q10;p11.1q11.1) |
none |
{1, page 81; 60} |
| 17- HHM- Yq12/ 1-1 |
ins(17;Y)(q21.1;q12q12) |
none |
{0} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 17- EHM-del pterp13.3/ 1-1 to few |
del(17)(p13.3) |
mild
to moderate or none {68} |
{1; 76; 77} |
| 17- EHM-del q25.3qter/ 1-1 |
del(17)(q25.3) |
none
in father of affected child |
{68} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 17- EHM-dup pterp13.3/ 1-1 |
der(18)t(17;18)(p13.3;p13.3) |
none |
{77} |
| 17- EHM-dup p11.2q11.2/ 1-1 to few |
sSMC(17) |
none |
{sSMC page} |