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cytogenetics; satellite chromosome; fluorescence in situ hybridization; marker chromosome; uniparental disomy

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.

MADHAVAN JEEVAN KUMAR^{1 2} KALPANA GOWRISHANKAR² VENKATASUBRAMANIAN HEMAGOWRIK^{1 2} JAYARAMA KADANDALE³

1. Department of Genetic Engineering, SRM Institute of Science and Technology, Kattankulathur 603 203, India
2. Department of Medical Genetics, CHILDS Trust Medical Research Foundation (CTMRF), Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600 034, India
3. Department of Molecular Cytogenetics, Centre for Human Genetics, Bengaluru 560 100, India

Published

12 September 2020

Manuscript received

17 December 2019

Manuscript revised

16 June 2020

Accepted

17 June 2020