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Partial trisomy 15q: report of a patient and literature review.

K. Chandler, C. T. R. M. Schrander‐Stumpel, J.J.M. Engelen, P. Theunissen, J. P. Fryns

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Abstract

We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.

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What this paper is about

We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.

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OpenAlex reports 18 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.

Key concepts: dup, Partial Trisomy, Karyotype, Gene duplication, Trisomy, Long arm, Scoliosis, Congenital scoliosis

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