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Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis

Authors
Journal
Molecular Cytogenetics
1755-8166
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Volume
1
Issue
1
Identifiers
DOI: 10.1186/1755-8166-1-2
Keywords
  • Research
Disciplines
  • Medicine

Abstract

1755-8166-1-2.fm ral ss BioMed CentMolecular Cytogenetics Open AcceResearch Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis Joo Wook Ahn*, Kathy Mann, Zoe Docherty and Caroline Mackie Ogilvie Address: Cytogenetics Department, Guy's and St Thomas' NHS Foundation Trust, London, UK Email: Joo Wook Ahn* - [email protected]; Kathy Mann - [email protected]; Zoe Docherty - [email protected]; Caroline Mackie Ogilvie - [email protected] * Corresponding author Abstract Background: Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtelomeric deletions are also becoming recognised. However, reciprocal duplication events at these loci are less easily recognised and identified, as they may give rise to milder phenotypic features, and the individuals carrying them may not therefore be referred for appropriate testing. 403 patients with developmental delay and/or dysmorphism, referred to our Genetics Centre for karyotyping and Fragile X expansion testing, were assessed for chromosome imbalance by Multiplex Ligation-dependent Probe Amplification (MLPA). Two MLPA kits were used, one containing probes for the subtelomere regions, and one containing probes for common microdeletion loci. 321 patients were tested with both kits, 75 with the subtelomere kit alone, and 7 with the microdeletion kit alone. Results: 32 patients had abnormal results; 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. Of the abnormal MLPA results, 5 were in cases with cytogenetically visible abnormalities; of the remaining, submicroscopic, changes, 3 results were established as de novo and 8

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