Samples for diagnosis

SampleDiagnosisSample typeClinical phenotypeFamily number
251CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
304CHROMOSOME ROBERTSONIAN TRANSLOCATIONLeukocytes 
462CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
476CHROMOSOME ROBERTSONIAN TRANSLOCATIONT-Lymphocytes + IL2Affected
518CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
794CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cell 
851CHROMOSOME ROBERTSONIAN TRANSLOCATIONFibroblastAffected
851CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
859CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
930CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cell 
962CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
999CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1031CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1067CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1148CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1162CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1356CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1436CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1511CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1253CHROMOSOME ROBERTSONIAN TRANSLOCATIONTissueAffected
1695CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
899CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
2143CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
2155CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
2351CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
2388CHROMOSOME ROBERTSONIAN TRANSLOCATIONT-Lymphocytes + IL2Affected
2388CHROMOSOME ROBERTSONIAN TRANSLOCATIONLymphoblast cellsAffected
2755CHROMOSOME ROBERTSONIAN TRANSLOCATIONFibroblastAffected
3016CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
4302CHROMOSOME ROBERTSONIAN TRANSLOCATIONAmniotic cellAffected
6280CHROMOSOME ROBERTSONIAN TRANSLOCATIONDNAAffected
6280CHROMOSOME ROBERTSONIAN TRANSLOCATIONLymphoblast cellsAffected
7018CHROMOSOME ROBERTSONIAN TRANSLOCATIONLymphoblast cellsAffected
7018CHROMOSOME ROBERTSONIAN TRANSLOCATIONDNAAffected
7018CHROMOSOME ROBERTSONIAN TRANSLOCATIONLeukocytesAffected
6280CHROMOSOME ROBERTSONIAN TRANSLOCATIONLeukocytesAffected