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.

Goyal-Naqvi Syndrome (Concurrent Trisomy 10p and Terminal 14q Deletion): A Review of the Literature

“…Despite variation observed over the phenotypic spectrum, trisomy 10p demonstrates discernible multiple congenital anomalies/mental retardation (MCA/MR) syndrome [11,27,28]. In conformation to the case report on GNS, absence of cardiopulmonary malformations has been observed in other previous studies on trisomy 10p [1,[13][14][15]. One of the studies reported features resembling facio-auriculo-vertebral spectrum in a child with trisomy 10p [29].…”

“…Some striking features in the hand that can aid clinical diagnosis are atypical palmar creases like formation of a triangle, camptodactyly and clinodactyly [7,11,14,[18][19][20]24]. The first case report on GNS also reported similar findings in context of hand [1]. It is interesting to note that around 20% of males presenting with duplication of 10p displayed intersex condition [7].…”

“…Although there is rich literature on phenotype and diagnosis of patients with trisomy 10p and terminal 14q deletion, a dearth of studies on the management of these patients is present. However, the female child reported with GNS was found to benefit from physiotherapy intervention [1]. We document a review of presently available literature on trisomy 10p and terminal 14q deletion that form the components of Goyal-Naqvi syndrome that provides a base of what is known to reveal gaps in knowledge that would help in laying recommendations about research in unexplored avenues.…”

“…Goyal-Naqvi syndrome (GNS) is a recently discovered genetic disorder that is a rare combination of two specific aberrations. GNS refers to a concomitant occurrence of an extra copy of genetic material on the short arm of chromosome 10 (trisomy 10p) and deletion of genetic material in the terminal region on the long arm of chromosome 14 (terminal 14q deletion) [1]. Trisomy 10p can be partial or complete and is rare to be diagnosed.…”

“…Other musculoskeletal features included widely abducted hips, bilateral hyperextension of knees and pes planus. Besides, the child displayed frequent extraneous movements of the head and neck [1]. Although there is rich literature on phenotype and diagnosis of patients with trisomy 10p and terminal 14q deletion, a dearth of studies on the management of these patients is present.…”