Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
3CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
4CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
23CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellNot affected
40CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
40CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
40CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
41CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
47CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
47CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
51CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
79CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
79CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
83CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
85CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
102CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
417CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
136CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
136CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
136CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
136CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
136CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
138CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesNot affected
159CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
178CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
179CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
215CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
216CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
271CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
273CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
308CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
333CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
380CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
380CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
417CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
498CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
498CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
500CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
511CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
512CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
514CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
529CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
530CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
555CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
589CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
614CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
642CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
651CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
664CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
665CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytes 
665CHROMOSOME RECIPROCAL TRANSLOCATIONBlood 
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
671CHROMOSOME RECIPROCAL TRANSLOCATIONBloodNot affected
685CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
685CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
687CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
698CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
710CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
715CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
716CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
716CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
757CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesNot affected
772CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
777CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
783CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
711CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
1672CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
797CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
824CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
822CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
822CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
833CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
881CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
876CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
877CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
664CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
783CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
783CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
898CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
909CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Not affected
935CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
936CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
984CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
986CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1046CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1048CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1155CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1161CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1166CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1618CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1216CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1494CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1245CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1673CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1670CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1287CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1298CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
1298CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1301CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
1303CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1309CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1311CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1324CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1326CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1347CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
1347CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2754CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1354CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
1371CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
1373CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
1383CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1399CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1418CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2 
1417CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
1434CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1435CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1459CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
935CHROMOSOME RECIPROCAL TRANSLOCATIONDNAAffected
1548CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
41CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
1618CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
1645CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
1898CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
102CHROMOSOME RECIPROCAL TRANSLOCATIONTissueAffected
1948CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
757CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
757CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
1673CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
1672CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
2227CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2241CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2227CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
138CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Not affected
138CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
2348CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2377CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2 
2383CHROMOSOME RECIPROCAL TRANSLOCATIONDNAAffected
2383CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2387CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2424CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2383CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
2377CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cells 
2387CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
2498CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2241CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
2661CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
2663CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
2667CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
2684CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
2667CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
2692CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2809CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2870CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
2940CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
2870CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
3165CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3183CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
894CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3310CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3355CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cell 
3425CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesAffected
1948CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
3688CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3506CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
3521CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3547CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cell 
3557CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3557CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3440CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
3638CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellNot affected
3592CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
3440CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
591CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
910CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
3655CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cell 
4002CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
4004CHROMOSOME RECIPROCAL TRANSLOCATIONBloodAffected
4002CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
4004CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
4003CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
4002CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONT-Lymphocytes + IL2Affected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastAffected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
4219CHROMOSOME RECIPROCAL TRANSLOCATIONDNAAffected
4030CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4029CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4047CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4044CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4044CHROMOSOME RECIPROCAL TRANSLOCATIONTrophoblast cellsAffected
4058CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
4191CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4263CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
4003CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
4004CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
5630CHROMOSOME RECIPROCAL TRANSLOCATIONDNAAffected
5762CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
5630CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
7101CHROMOSOME RECIPROCAL TRANSLOCATIONDNANot affected
7101CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesNot affected
7101CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
7103CHROMOSOME RECIPROCAL TRANSLOCATIONDNANot affected
7103CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesNot affected
7103CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
7543CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
1189CHROMOSOME RECIPROCAL TRANSLOCATIONLeukocytesNot affected
7773CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsNot affected
7773CHROMOSOME RECIPROCAL TRANSLOCATIONFibroblastNot affected
1189CHROMOSOME RECIPROCAL TRANSLOCATIONDNANot affected
8498CHROMOSOME RECIPROCAL TRANSLOCATIONAmniotic cellAffected
687CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected
685CHROMOSOME RECIPROCAL TRANSLOCATIONLymphoblast cellsAffected