15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for the 15q13.3 deletion syndrome's pathogenicity. Patient 1 has cognitive impairment, learning disabilities, hyperactivity and subtle dysmorphic features whereas patient 2 has mild language impairment with speech difficulty, mild dysmorphia, heart defect and interestingly a high IQ that has not been reported in 15q13.3 syndrome patients before. Our study presents first report of such two successive deletions in 15q13.3 syndrome patients and a high IQ in a 15q13.3 syndrome patient. Our study expands the breakpoints and phenotypic features related to 15q13.3 syndrome.
CITATION STYLE
Alsagob, M., Salih, M. A., Hamad, M. H. A., Al-Yafee, Y., Al-Zahrani, J., Al-Bakheet, A., … Kaya, N. (2019). First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: Additional data to 15q13.3 syndrome with a report of high IQ patient. Molecular Cytogenetics, 12(1). https://doi.org/10.1186/s13039-019-0432-6
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