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Goyal C, Goyal V, Naqvi WM. A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach. Cureus. 2021;13(6):e15459doi: 10.7759/cureus.15459.
Goyal, C., Goyal, V., & Naqvi, W. M. (2021). A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach. Cureus, 13(6), e15459. https://doi.org/10.7759/cureus.15459
Goyal, Chanan, et al. "A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach." Cureus vol. 13,6 (2021): e15459. doi: https://doi.org/10.7759/cureus.15459
Goyal C, Goyal V, Naqvi WM. A Rare and Unusual Case of Trisomy 10p with Terminal 14q Deletion: A Multidisciplinary Approach. Cureus. 2021 Jun 05;13(6):e15459. doi: 10.7759/cureus.15459. eCollection 2021 Jun. PMID: 34258121; PMCID: PMC8256636.
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Cureus. 2021 Jun 05;13(6):e15459. doi: 10.7759/cureus.15459. eCollection 2021 Jun.

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

Cureus

Chanan Goyal, Vivek Goyal, Waqar M Naqvi

Affiliations

  1. Community Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
  2. Paediatric Physiotherapy, Government Physiotherapy College, Raipur, IND.
  3. Anaesthesiology, Shri Balaji Institute of Medical Science, Raipur, IND.

PMID: 34258121 PMCID: PMC8256636 DOI: 10.7759/cureus.15459

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.

Copyright © 2021, Goyal et al.

Keywords: goyal-naqvi syndrome; neurodevelopmental treatment; rare genetic disorder; sensory integration; terminal 14q deletion; trisomy 10p

Conflict of interest statement

The authors have declared that no competing interests exist.

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