Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis

Keyphrases

• Preimplantation Genetic Diagnosis 100%
• Autosome Translocation 100%
• Fetus 50%
• Segregation Patterns 50%
• Singleton Pregnancy 25%
• Gestational Age 25%
• Blastomere 25%
• Diagnostic Test 25%
• Fluorescence in Situ Hybridization 25%
• Colocalization 25%
• Reciprocal Translocation 25%
• Mosaicism 25%
• Telomere 25%
• DNA Probe 25%
• Fetal Tissue 25%
• Probing Signal 25%
• Chromosome 5 25%
• Chiasma 25%
• Cytogenetic Study 25%
• Partial Hybridization 25%
• Normal Cell Line 25%
• Derivative Chromosome 25%
• Molecular Cytogenetics 25%
• Diagnostic Probe 25%
• X Chromosome Inactivation 25%
• Diagnosis Strategy 25%
• Failure Localization 25%

INIS

• genetics 100%
• translocation 100%
• chromosomes 57%
• segregation 42%
• probes 42%
• carriers 28%
• embryos 28%
• fetuses 28%
• testing 14%
• fluorescence 14%
• tissues 14%
• females 14%
• sex 14%
• errors 14%
• dna 14%
• failures 14%
• pregnancy 14%
• signals 14%
• offsprings 14%
• hybridization 14%
• inactivation 14%
• in-situ hybridization 14%
• x chromosome 14%
• reciprocal translocations 14%
• mosaicism 14%
• karyotype 14%

Biochemistry, Genetics and Molecular Biology

• Preimplantation Genetic Diagnosis 100%
• Autosome 100%
• Chromosomal Translocation 50%
• Mosaicism 25%
• DNA Probe 25%
• Trisomy 25%
• Blastomere 25%
• Karyotype 25%
• Fluorescence in Situ Hybridization 25%
• Cytogenetics 25%
• Reciprocal Chromosome Translocation 25%
• X-Inactivation 25%
• Chromosome 5 25%
• Subtelomere 25%
• Derivative Chromosome 25%
• Offspring 25%