 |
 |
-
CHROMOSOME 1 -
| Heterochromatic - centromeric - other heterochromatic variants |
Euchromatic - euchromatic deletions - euchromatic duplications |
| References | |
accordingly: "for GRCh37, the 5S array is in chr1: 228743523–228781906"
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 01- cen+/ 1-1 to few |
1cen+ D1Z7 = D5Z2 = D19Z3 |
none |
{1,
page 58} |
| 01- cen+/ 2-1 to few |
dup(1)(p11.1q11) |
none |
{1,
page 59} |
| 01- cen-/ 1-1 to few |
1cen- D1Z7 = D5Z2 = D19Z3 |
none |
{1,
page 58} |
| 01- inv/ 1-1 to few |
inv(1)(p12q12~21.1) |
none |
{1,
page 59} |
| 01- inv/ 2-1 to few |
inv(1)(p11q12) |
none |
{1,
page 59} |
| 01- q12/ 1-1 to 1-98 |
1qh+ D1Z5 there can be large qh+ variants with GTG-positive extra bands and without such |
none |
{1,
page 9} |
| 01- q12/ 2-1 to few |
1qh- D1Z5 |
none |
{1,
page 58} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 01- HHM- owncep/ 1-1 to many |
D1Z7 (stains 1p11.1q11) gives always signals on 5p11 (=D5Z2) and 19p11.1 (=D19Z3) |
none |
{1} |
| 01- HHM- 1q12/ 1-1 |
D1Z5 material
was inserted in X |
none |
{1; 47} |
| 01- HHM- acro/ 1-1 to 1-3 |
der(1)t(1;acro)(p36.33;p11.2) |
none |
{1; 100; 13;
14; 104} |
| 01- HHM- acro/ 2-1 to 2-2 |
der(1)t(1;acro)(q44;p11.2) |
none |
{15; 100;
101} |
| 01- HHM- 18p11.1q11.1/ 1-1 |
ins(1;18)(q12;p11.1q11.1) |
none |
{1, page 81,
55} |
| 01- 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} |
| 01- HHM- Yq12/ 1-1 |
ins(1;Y)(q12;q12q12) |
none |
{1, page 83;
61 |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 01- EHM-del p36.22p36.21/ 1-1 |
del(1)(p36.22p36.21) arr[GRCh37] 1p36.22p36.21(11,769,910_12,910,774)x1 |
none |
{0-70630} |
| 01- EHM-del p34.3p34.1/ 1-1 |
del(1)(p34.3p34.1) |
mild to moderate |
{1} |
| 01- EHM-del p32.3p31.1/ 1-1 |
del(1)(p32.3p31.1) |
mild to moderate |
{1} |
| 01- EHM-del q42.1q42.3/ 1-1 |
del(1)(q42.1q42.3) |
mild to moderate |
{1} |
| 01- EHM-del q44q44/ 1-1 |
del(1)(q44q44) |
none |
{1} |
| case no. |
(molecular)
cytogenetic result |
clinical
symptoms |
reference |
| 01- EHM-dup p36.33p36.22/ 1-1 |
dup(1)(p36.33p36.22) |
mild to moderate |
{1, page 88} |
| 01- EHM-dup p36.13p36.22/ 1-1 |
dup(1)(p36.13p36.22) |
mild to moderate |
{0, 66074} |
| 01- EHM-dup p34.2p34.1/ 1-1 |
dup(1)(p34.2p34.1) |
mild to moderate |
{1, page 88} |
| 01- EHM-dup p31p21/ 1-1 |
dup(1)(p31p21) |
none |
{1, page 88} |
| 01- EHM-dup p12q21.1/ 1-1 to few |
sSMC(1) |
none |
{sSMC page} |
| 01- EHM-dup q11-q22/ 1-1 |
dup(1)(q11q22) |
none |
{1, page 88} |
| 01- EHM-dup q31.1q32.3/ 1-1 |
dup(1)(q31.1q32.3) |
none |
{1, page 88} |
| 01- EHM-dup q42.11q42.12/ 1-1 |
dup(1)(q42.11q42.12) |
none |
{1, page 88} |
| 01- EHM-dup q23q25/ 1-1 |
dup(1)(q23q25) |
none |
{1, page 88} |