Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
161CRI-DU-CHAT SYNDROMEBloodAffected
193CRI-DU-CHAT SYNDROMEAmniotic cellAffected
751CRI-DU-CHAT SYNDROMELeukocytesAffected
752CRI-DU-CHAT SYNDROMELeukocytesAffected
752CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
774CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
815CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
970CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
971CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
973CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
975CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
977CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
978CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
979CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
980CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
981CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1009CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1011CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1012CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1014CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1016CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1017CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1019CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1020CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1021CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1040CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1104CRI-DU-CHAT SYNDROMELeukocytesAffected
1106CRI-DU-CHAT SYNDROMELeukocytesAffected
1110CRI-DU-CHAT SYNDROMELeukocytesAffected
1111CRI-DU-CHAT SYNDROMELeukocytesAffected
1112CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1113CRI-DU-CHAT SYNDROMELeukocytesAffected
1114CRI-DU-CHAT SYNDROMELeukocytesAffected
1115CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1118CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1119CRI-DU-CHAT SYNDROMELeukocytesAffected
1125CRI-DU-CHAT SYNDROMELeukocytesAffected
1126CRI-DU-CHAT SYNDROMELeukocytesAffected
1129CRI-DU-CHAT SYNDROMELeukocytesAffected
1132CRI-DU-CHAT SYNDROMELeukocytesAffected
1135CRI-DU-CHAT SYNDROMELeukocytesAffected
1138CRI-DU-CHAT SYNDROMELeukocytesAffected
1144CRI-DU-CHAT SYNDROMELeukocytesAffected
1146CRI-DU-CHAT SYNDROMELeukocytesAffected
1153CRI-DU-CHAT SYNDROMELeukocytesAffected
981CRI-DU-CHAT SYNDROMELeukocytesAffected
1203CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1208CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1213CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1153CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1226CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1227CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1228CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1229CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1230CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1231CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1232CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
1243CRI-DU-CHAT SYNDROMEAmniotic cellAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1270CRI-DU-CHAT SYNDROMELeukocytesAffected
1272CRI-DU-CHAT SYNDROMEBloodAffected
1284CRI-DU-CHAT SYNDROMEBloodAffected
1396CRI-DU-CHAT SYNDROMEBloodAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1243CRI-DU-CHAT SYNDROMETissueAffected
1190CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
140CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2304CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2306CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Not affected
2310CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2304CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2306CRI-DU-CHAT SYNDROMELymphoblast cellsNot affected
2310CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2304CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2306CRI-DU-CHAT SYNDROMELymphoblast cellsNot affected
140CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2543CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2777CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2784CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2790CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2793CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2820CRI-DU-CHAT SYNDROMET-Lymphocytes + IL2Affected
2793CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2820CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2777CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2908CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2790CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
2784CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4507CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1003CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1144CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4505CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4499CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1015CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4500CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4508CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1272CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1138CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1237CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1125CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4509CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4504CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
974CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4506CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1146CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4502CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
973CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1104CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1203CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4503CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1276CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4501CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
5296CRI-DU-CHAT SYNDROMEAmniotic cellAffected
976CRI-DU-CHAT SYNDROMEDNAAffected
4504CRI-DU-CHAT SYNDROMEBloodAffected
7589CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
976CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1199CRI-DU-CHAT SYNDROMEDNAAffected
1199CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1013CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1013CRI-DU-CHAT SYNDROMEDNAAffected
972CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
972CRI-DU-CHAT SYNDROMEDNAAffected
1276CRI-DU-CHAT SYNDROMEDNAAffected
1206CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1206CRI-DU-CHAT SYNDROMEDNAAffected
2543CRI-DU-CHAT SYNDROMELeukocytesAffected
2543CRI-DU-CHAT SYNDROMEDNAAffected
1018CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1018CRI-DU-CHAT SYNDROMEDNAAffected
1330CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1330CRI-DU-CHAT SYNDROMEDNAAffected
4503CRI-DU-CHAT SYNDROMELeukocytesAffected
4503CRI-DU-CHAT SYNDROMEDNAAffected
1015CRI-DU-CHAT SYNDROMELeukocytesAffected
1015CRI-DU-CHAT SYNDROMEDNAAffected
1221CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1221CRI-DU-CHAT SYNDROMEDNAAffected
1223CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1223CRI-DU-CHAT SYNDROMEDNAAffected
1141CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1141CRI-DU-CHAT SYNDROMEDNAAffected
7705CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
7705CRI-DU-CHAT SYNDROMEDNAAffected
7711CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
7711CRI-DU-CHAT SYNDROMEDNAAffected
7716CRI-DU-CHAT SYNDROMEDNAAffected
7716CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1190CRI-DU-CHAT SYNDROMELeukocytesAffected
1190CRI-DU-CHAT SYNDROMEDNAAffected
7723CRI-DU-CHAT SYNDROMEDNAAffected
7723CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
7729CRI-DU-CHAT SYNDROMEDNAAffected
7729CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
7731CRI-DU-CHAT SYNDROMEDNAAffected
7731CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4499CRI-DU-CHAT SYNDROMEDNAAffected
4501CRI-DU-CHAT SYNDROMELeukocytesAffected
1125CRI-DU-CHAT SYNDROMEDNAAffected
973CRI-DU-CHAT SYNDROMEDNAAffected
974CRI-DU-CHAT SYNDROMEDNAAffected
1104CRI-DU-CHAT SYNDROMEDNAAffected
1237CRI-DU-CHAT SYNDROMEDNAAffected
4507CRI-DU-CHAT SYNDROMEDNAAffected
4502CRI-DU-CHAT SYNDROMEDNAAffected
1144CRI-DU-CHAT SYNDROMEDNAAffected
4505CRI-DU-CHAT SYNDROMEDNAAffected
4500CRI-DU-CHAT SYNDROMEDNAAffected
4504CRI-DU-CHAT SYNDROMEDNAAffected
1146CRI-DU-CHAT SYNDROMEDNAAffected
1003CRI-DU-CHAT SYNDROMEDNAAffected
1272CRI-DU-CHAT SYNDROMEDNAAffected
4506CRI-DU-CHAT SYNDROMEDNAAffected
4508CRI-DU-CHAT SYNDROMEDNAAffected
1138CRI-DU-CHAT SYNDROMEDNAAffected
1203CRI-DU-CHAT SYNDROMEDNAAffected
4501CRI-DU-CHAT SYNDROMEDNAAffected
7586CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
1276CRI-DU-CHAT SYNDROMELeukocytesAffected
8091CRI-DU-CHAT SYNDROMEDNAAffected
4506CRI-DU-CHAT SYNDROMEDNAAffected
8095CRI-DU-CHAT SYNDROMEDNAAffected
7871CRI-DU-CHAT SYNDROMEDNAAffected
2304CRI-DU-CHAT SYNDROMEDNAAffected
8306CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8306CRI-DU-CHAT SYNDROMEDNAAffected
8307CRI-DU-CHAT SYNDROMEDNAAffected
8307CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8308CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8308CRI-DU-CHAT SYNDROMEDNAAffected
8311CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8311CRI-DU-CHAT SYNDROMEDNAAffected
8450CRI-DU-CHAT SYNDROMEDNAAffected
8450CRI-DU-CHAT SYNDROMEBloodAffected
8450CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8453CRI-DU-CHAT SYNDROMEDNAAffected
8453CRI-DU-CHAT SYNDROMEBloodAffected
8453CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4504CRI-DU-CHAT SYNDROMELeukocytesAffected
8456CRI-DU-CHAT SYNDROMEDNAAffected
8456CRI-DU-CHAT SYNDROMEBloodAffected
8456CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8459CRI-DU-CHAT SYNDROMEDNAAffected
8459CRI-DU-CHAT SYNDROMEBloodAffected
8459CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
4509CRI-DU-CHAT SYNDROMEDNAAffected
4509CRI-DU-CHAT SYNDROMELeukocytesAffected
4509CRI-DU-CHAT SYNDROMEBloodAffected
972CRI-DU-CHAT SYNDROMEBloodAffected
8916CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8916CRI-DU-CHAT SYNDROMEBloodAffected
8916CRI-DU-CHAT SYNDROMEDNAAffected
8900CRI-DU-CHAT SYNDROMEDNAAffected
8900CRI-DU-CHAT SYNDROMEBloodAffected
8903CRI-DU-CHAT SYNDROMEDNAAffected
8903CRI-DU-CHAT SYNDROMEBloodAffected
8906CRI-DU-CHAT SYNDROMEDNAAffected
8906CRI-DU-CHAT SYNDROMEBloodAffected
8906CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8912CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8912CRI-DU-CHAT SYNDROMEDNAAffected
8912CRI-DU-CHAT SYNDROMEBloodAffected
8900CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8903CRI-DU-CHAT SYNDROMELymphoblast cellsAffected
8969CRI-DU-CHAT SYNDROMELeukocytesAffected
8969CRI-DU-CHAT SYNDROMEDNAAffected
8969CRI-DU-CHAT SYNDROMEBloodAffected
8972CRI-DU-CHAT SYNDROMELeukocytesAffected
8972CRI-DU-CHAT SYNDROMEDNAAffected
8972CRI-DU-CHAT SYNDROMEBloodAffected