| Bezeichnung |
Synonyme |
Orphanet
|
| Mikrodeletionssyndrom 1p21.3 |
Del(1)p(21.3); Monosomie 1p21.3 |
293948
|
| Mikrodeletionssyndrom 1p31p32 |
Del(1)(p31p32); Monosomie 1p31p32 |
401986
|
| Mikrodeletionssyndrom 1q21.1 |
Del(1)(q21); Monosomie 1q21.1 |
250989
|
| Mikrodeletionssyndrom 1q41q42 |
Del(1)(q41q42); Monosomie 1q41-q42 |
250999
|
| Mikrodeletionssyndrom 1q44 |
Del(1)(q44); Monosomie 1q44 |
238769
|
| 2p21-Mikrodeletionssyndrom ohne Cystinurie |
Del(2)(p21) ohne Cystinurie |
369881
|
| Mikrodeletionssyndrom 2p13.2 |
Del(2)(p13.2) |
363680
|
| Mikrodeletionssyndrom 2p15p16.1 |
|
261349
|
| Mikrodeletionssyndrom 2p21 |
|
163693
|
| Mikrodeletionssyndrom 2p21, homozygotes |
2p21-Contiguous gene deletion-Syndrom |
369886
|
| Mikrodeletionssyndrom 2q23.1 |
|
|
| Mikrodeletionssyndrom 2q24 |
Del(2)(q24); Monosomie 2q24 |
1617
|
| Mikrodeletionssyndrom 2q31.1 |
|
251014
|
| Mikrodeletionssyndrom 2q32q33 |
|
251019
|
| Mikrodeletionssyndrom 2q33.1 |
Del(2)(q33.1); Monosomie 2q33.1 |
251028
|
| Mikrodeletionssyndrom 2q37 |
Albright-Osteodystrophie, hereditäre, Typ 3; Albright-Osteodystrophie-ähnliches Syndrom; Brachydaktylie-Intelligenzminderung-Syndrom; Del(2)(q37); Deletion 2q37 Deletion 2q37-qter; Monosomie 2q37-qter |
1001
|
| Mikrodeletionssyndrom 3p25.3 |
Del(3)p(25.3); Intelligenzminderung-Epilepsie-stereotype Handbewegungen-Syndrom; Monosomie 3p25.3
|
| Mikrodeletionssyndrom 3q13 |
Del(3)(q13); Monosomie 3q13 |
1621
|
| Mikrodeletionssyndrom 3q26q27 |
Del(3)(q26q27); Deletion 3q26-q27; Monosomie 3q26-q27; Monosomie 3q26q27 |
356947
|
| Mikrodeletionssyndrom 3q27.3 |
Del(3)(q27.3) |
397695
|
| Mikrodeletionssyndrom 3q29 |
Del(3)(q29); Deletion 3qter; Monosomie 3q29; Monosomie3qter |
65286
|
| Mikrodeletionssyndrom 4q21 |
Del(4)(q21); Monosomie 4q21 |
238750
|
| Mikrodeletionssyndrom 5q14.3 |
Del(5)(q14.3); Monosomie 5q14.3 |
228384
|
| Mikrodeletionssyndrom 5q23 |
|
436003
|
| Mikrodeletionssyndrom 5q31.3 |
|
314655
|
| Mikrodeletionssyndrom 6p22 |
Del(6)(p22); Monosomie 6p22 |
251046
|
| Mikrodeletionssyndrom 6p25 |
|
96125
|
| Mikrodeletionssyndrom 6q16 |
Del(6)(q16); Monosomie 6q16; Prader-Willi-ähnliches Syndrom durch Deletion 6q16 |
171829
|
| Mikrodeletionssyndrom 6q25 |
Del(6)(q25); Monosomie 6q25 |
664404
|
| Chromosom-7q-Syndrom |
|
|
| Mikrodeletionssyndrom 7q11.23, distal |
Del(7)(q11.23); Monosomie 7q11.23, distal
|
| Mikrodeletionssyndrom 7q31 |
Del(7)(q31); Monosomie 7q31 |
251061
|
| Deletion 7q36 |
|
1636
|
| Mikrodeletionssyndrom 8p11.2 |
Del(8)(p11.2); Monosomie 8p11.2 |
251066
|
| Mikrodeletionssyndrom 8p23.1 |
Del(8)(p23.1); Monosomie 8p23.1 |
251071
|
| Mikrodeletionssyndrom 8q21.11 |
Del(8)(q21.11); Deletion 8q21.11; Monosomie 8q21.11 |
284160
|
| Mikrodeletionssyndrom 9p13 |
Del(9)(p13); Monosomie 9p13 |
324313
|
| Mikrodeletionssyndrom 9q21 |
|
352665
|
| Mikrodeletionssyndrom 9q31.1q31.3 |
Del(9)(q31.1q31.3); Monosomie 9q31.1q31.3 |
401923
|
| Mikrodeletionssyndrom 9q33.3q34.11 |
Del(9)(q33.3q34.11); Deletion 9q33.3q34.11; Mikrodeletionssyndrom 9q33.3-q34.11; Monosomie 9q33.3-q34.11; Monosomie 9q33.3q34.11 |
495818
|
| Mikrodeletionssyndrom 10p12p11 |
|
284169
|
| Mikrodeletionssyndrom 10q22.3q23.3 |
|
276413
|
| Monosomie 11q22.2-q22.3 |
|
444002
|
| Mikrodeletionssyndrom 12p12.1 |
|
313884
|
| Mikrodeletionssyndrom 12q14 |
|
94063
|
| Mikrodeletionssyndrom 12q15q21.1 |
|
289513
|
| Mikrodeletionssyndrom 13q12.3 |
|
412035
|
| Mikrodeletionssyndrom 14q11.2 |
|
261120
|
| Mikrodeletionssyndrom 14q12 |
|
261144
|
| Mikrodeletionssyndrom 14q22 |
|
1102
|
| Mikrodeletionssyndrom 14q32.2, maternal |
Del (14)(q32.2), maternal; Monosomie 14q32.2, maternal |
254528
|
| Mikrodeletionssyndrom 14q32.2, paternal |
Del (14)(q32.2), paternal |
254525
|
| Mikrodeletionssyndrom 15q26.3 |
|
363992
|
| Mikrodeletionssyndrom 15q11.2 |
15q11.2 (BP1-BP2)-Mikrodeletionssyndrom; Del(15)(q11.2); Monosomie 15q11.2 |
261183
|
| Mikrodeletionssyndrom 15q13 |
Del(15)(q13.3); Monosomie 15q13.3 |
199318
|
| Mikrodeletionssyndrom 15q14 |
Del(15)(q14); Monosomie 15q14 |
261190
|
| Mikrodeletionssyndrom 15q24 |
Del(15)(q24); Monosmie 15q24 |
94065
|
| Mikrodeletionssyndrom 16p11.2, distal |
Distal del(16)(p11.2); Monosomie 16p11.2, distal |
261222
|
| Mikrodeletionssyndrom 16p11.2, proximales |
Del(16)(p11.2); Monosomie 16p11.2 |
261197
|
| Mikrodeletionssyndrom 16p11.2-p12.2 |
|
261211
|
| Mikrodeletionssyndrom 16p13.11 |
Del(16)(p13.11); Monosomie 16p13.11 |
261236
|
| Mikrodeletionssyndrom 16q24.1 |
|
352629
|
| Mikrodeletionssyndrom 16q24.3 |
Del(16)(q24.3); Monosomie 16q24.3 |
261250
|
| Mikrodeletionssyndrom 17p13.1, distal |
Del(17)(p13.1), distal |
319171
|
| Mikrodeletionssyndrom 17p13.3, distal |
Del(17)(p13.3); Monosomie 17p13.3, distal |
261257
|
| Mikrodeletionssyndrom 17q11 |
Del(17)(q11); Monosomie 17q11; NF1-Mikrodeletionssyndrom; Neurofibromatose Typ 1-Mikrodeletionssyndrom |
97685
|
| Mikrodeletionssyndrom 17q11.2 |
Dup(17)(q11.2); Grisart-Destrée-Syndrom; Trisomie 17q11.2
|
| Mikrodeletionssyndrom 17q12 |
Del(17)(q12); Monosomie 17q12 |
261265
|
| Mikrodeletionssyndrom 17q21.31 |
Del(17)(q21.31); Monosomie 17q21.31 |
363958
|
| Mikrodeletionssyndrom 17q23.1q23.2 |
Del(17)(q23.1q23.2); Monosomie 17q23.1-q23.2 |
261279
|
| Mikrodeletionssyndrom 19p13.12 |
Del(19)(p13.12); Monosomie 19p13.12 |
254346
|
| Mikrodeletionssyndrom 19p13.13 |
Del(19)(p13.13); Monosomie 19p13.13 |
357001
|
| Mikrodeletionssyndrom 19q13.11 |
Del(19)(q13.11); Monosomie 19q13.1 |
217346
|
| Mikrodeletionssyndrom 20p12.3 |
Del(20)(p12.3); Monosomie 20p12.3 |
261295
|
| Mikrodeletionssyndrom 20p13 |
Del(20)(p13); Monosomie 20p13; Subtelomere 20p-Deletion
|
| Mikrodeletionssyndrom 20q11.2 |
Del(20)(q11.2); Monosomie 20q11 |
444051
|
| Mikrodeletionssyndrom 20q13.2q13.3, paternal |
|
261304
|
| Mikrodeletionssyndrom 20q13.33 |
Del(20)(q13.33); Monosomie 20q13; Monosomie 20q13.33 |
261311
|
| Mikrodeletionssyndrom 21q22 |
Del(21)(q22.11q22.12); Mikrodeletionssyndrom 21q22.11-q22.12; Monosomie 21q22.11-q22.12
|
| Mikrodeletionssyndrom 21q22.13-q22.2 |
|
268261
|
| Mikrodeletionssyndrom 22q11.2, distal |
|
261330
|
| Mikrodeletionssyndrom Xp21 |
|
261476
|
| Mikrodeletionssyndrom Xp22.3 |
|
|
| Mikrodeletionssyndrom Xq22.3 |
Mikrodeletionssyndrom 17p11.2 |
11
|
| Mikrodeletionssyndrom Xq22.3 |
|
1018
|
| Nablus-mask-like-facial-Syndrom |
Mikrodeletionssyndrom 8q22.1
|
