Abstract
Objective: To determine whether a pediatric patient with a phenotype resembling the 18q deletion syndrome but a normal karyotype had any cryptic genetic aberrations.Methods: High‐resolution G‐band chromosome analysis, array comparative genomic hybridization (aCGH), and telomeric fluorescence in situ hybridization (FISH) were performed on DNA obtained from a peripheral blood sample.Results: FISH and aCGH detected a cryptic unbalanced translocation between 4q and 18q [der(18)t(4;18)(q35;q23)(4qtel+,18qtel‐)].Conclusions: Two other similar patients were identified in the literature. The known genes gained and deleted by this unbalanced translocation are enumerated, including deletion of myelin basic protein. An assessment of candidate genes for particular characteristics, including neurologic and developmental abnormalities (such as abnormal white matter myelination), is also included.Source of support: This data was collected as part of the patient's routine workup; no designated research support was utilized.
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