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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Conventional karyotyping meets molecular cytogenet ...
Conventional karyotyping meets molecular cytogenetics: Case series of joint chromosomal analysis in two reference laboratories in Colombia
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This document discusses the importance of using karyotyping as a complement to molecular technologies in evaluating patients with developmental disorders. The revised recommendations from the ACMG highlight the use of microarrays as a first-tier test, but karyotyping is often overlooked. Karyotyping is a lower-resolution method that can provide additional information and confirm the results of molecular testing.<br /><br />The document describes a case series in which patients referred for chromosomal or SNP microarrays were also subjected to high-resolution karyotyping. Any copy number abnormalities causing doubt or needing confirmation, as well as cases with inconsistent results between karyotyping and array testing, were re-evaluated by conventional cytogenetics. The final reports were discussed between the two laboratories involved to provide robust reports for treating physicians.<br /><br />The authors emphasize that while molecular technologies have advanced genetic testing and provided more accurate diagnoses, conventional methods like karyotyping still have a role in the clinical setting. Molecular biology technologies have limitations and often require confirmation or validation through other techniques. Understanding the mechanisms behind genetic abnormalities is important for recurrence counseling, and karyotyping can provide answers that molecular testing may not.<br /><br />The document includes several case examples illustrating the benefits of combining karyotyping with molecular testing. These cases involve patients with various developmental disorders and highlight the additional information obtained through karyotyping.<br /><br />In conclusion, the document stresses the importance of considering karyotyping alongside molecular technologies for a comprehensive evaluation of patients with developmental disorders. While molecular testing has its strengths, karyotyping can provide valuable insights and confirmation of results. Genetic testing should continue to evolve to integrate both approaches for better patient care.
Asset Subtitle
Presenting Author - Silvia Maradei, MD MS; Co-Author - SHIRLEY NATALI IZA, MD; Co-Author - PAULA SIAUCHO, BS MS; Co-Author - CLADELIS RUBIO, MD MS; Co-Author - LINA TORRES, BS; Co-Author - KATHERINE CORDÓN, BS ESP; Co-Author - DIANA RAMÍREZ, MD MS;
Meta Tag
array CGH
Chromosomal Abnormalities
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Cytogenetics
Etiology
Genetic Testing
Microarray
Molecular Cytogenetics
Co-Author
SHIRLEY NATALI IZA, MD
Co-Author
PAULA SIAUCHO, BS MS
Co-Author
CLADELIS RUBIO, MD MS
Co-Author
LINA TORRES, BS
Co-Author
KATHERINE CORDÓN, BS ESP
Co-Author
DIANA RAMÍREZ, MD MS
Presenting Author
Silvia Maradei, MD MS
Keywords
karyotyping
molecular technologies
evaluating patients
developmental disorders
ACMG recommendations
microarrays
copy number abnormalities
conventional cytogenetics
genetic testing
recurrence counseling
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