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Abstract

July September 2018 | Vol. 11 | Issue 3 | 2-5
Evolution of Diagnosis with Evolving Technology: A Story of 10q Duplication Syndrome
Dr. Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
 
Abstract
Complete or partial trisomy 10q involves a duplication of the long arm of chromosome 10. Distal 10q trisomy is a well-recognized but rare genetic syndrome in which duplication of distal segments of 10q results in a pattern of malformations. Molecular cytogenetic techniques are advantageous not only in identifying submicroscopic chromosomal imbalances, but also in identifying the exact origin of the extra chromosomal material. Many a times, the phenotype of patients also evolves with age. We report a 17-year-old boy, suspected to have Trisomy 21 during infancy, but who on re-evaluation and follow up, was identified by cytogenetic microarray (CMA) to have partial 10q duplication. In this short report, we discuss the overlapping features of 10q duplication with trisomy 21 and utility of CMA in evaluation of chromosomal imbalances.
 
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