Chromosome Imbalance in Patients with Developmental Delay
Author Information
Author(s): Ahn Joo Wook, Mann Kathy, Docherty Zoe, Mackie Ogilvie Caroline
Primary Institution: Guy's and St Thomas' NHS Foundation Trust, London, UK
Hypothesis
What is the prevalence of submicroscopic chromosome imbalances in patients with developmental delay and/or dysmorphism referred for Fragile X testing?
Conclusion
Karyotype analysis combined with MLPA assays for subtelomeres and microdeletion loci may improve diagnostic yield in this patient group.
Supporting Evidence
- The overall abnormality detection rate was 2.5% for karyotype analysis and 7.2% for MLPA testing.
- 5.5% of subtelomere tests and 2.1% of microdeletion tests gave abnormal results.
- None of the patients was found to have a Fragile X expansion.
Takeaway
Doctors looked at the chromosomes of kids with developmental delays to find hidden problems. They found some issues that regular tests missed.
Methodology
Patients were tested using Multiplex Ligation-dependent Probe Amplification (MLPA) for chromosome imbalances.
Limitations
Parental samples were not available for all cases, limiting inheritance studies.
Participant Demographics
Patients referred for karyotyping and Fragile X testing due to developmental delay and/or dysmorphism.
Digital Object Identifier (DOI)
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