A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach.

Abstract

Trisomy 10p is a rare entity to be diagnosed and so is terminal 14q deletion. The total number of trisomy 10p cases reported to date is estimated to be in double digits. The number of terminal 14q deletion cases that have been reported in the literature is even lesser than that of trisomy 10p. Simultaneous occurrence of these genetic aberrations is, therefore, extremely rare. Herein, we document a case of a 14-month-old female diagnosed with trisomy 10p and terminal 14q deletion, who presented with an inability to sit without support and had difficulty in holding her neck. She had no means of independent indoor mobility, which was further limiting her development by exploration. Clinical features included hypotonia, developmental delay, extraneous movements of the head and tongue, intellectual impairment, and facial dysmorphism. She could maintain tripod sitting for less than a minute. Physiotherapy intervention was based on principles of neurodevelopmental treatment and sensory integration. After nine months of physiotherapy intervention, her total gross motor function measure (GMFM) score improved from 11% to 40%. The functional gains were maintained with a home exercise program, after almost one year of discontinuation of institution-based physiotherapy. To the best of our knowledge, this is the first report on the management of a child with the diagnosis of trisomy 10p along with terminal 14q deletion. Further research on the role of early intervention to maximize functional potential in rare genetic conditions is warranted.