A de novo marker chromosome 15 in a child with isolated developmental delay
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Date
2020-09
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Sciences
Abstract
We report a rare case of a 14-month-old male child who was referred for developmental delay. Clinical examination revealed a hypotonic infant with speech delay and no dysmorphic features. The banding cytogenetics revealed a small supernumerary marker chromosome. Upon silver staining, the marker showed the presence of satellite regions on either ends. Further, analysis using fluorescence in situ hybridization on marker chromosome revealed its origin from chromosome 15.
Description
Keywords
cytogenetics, satellite chromosome, fluorescence in situ hybridization, marker chromosome, uniparental disomy
Citation
Kumar Madhavan Jeevan, Gowrishankar Kalpana, Hemagowri Venkatasubramanian, Kadandale Jayarama. A de novo marker chromosome 15 in a child with isolated developmental delay. Journal of Genetics. 2020 Sep; 99: 1-4