Clinical profile and cytogenetics of siblings with Jacobsen syndrome

Abstract

The clinical care of patients has greatly benefited from the advancement of genetic testing. Over time, a gradual move toward a “genotype-first” strategy and growing use of genome-wide testing techniques such as chromosomal microarray analysis and next-generation sequencing have been noted to facilitate arriving at the diagnosis. However, the cost of these genetic tests is too high which people from low socioeconomic status cannot afford. Our case report was about one such affected family, in which both siblings were diagnosed with Jacobsen syndrome. We describe about a 2-year-old male child who has dysmorphic facial features, cardiac and renal defects, and developmental delay without thrombocytopenia. Segmental duplication (22.2 Mb) on the long arm of chromosome 14 and deletion of 5.9 Mb on 11q24 were revealed by chromosomal microarray analysis.

Keywords

• 11q deletion
• 14q duplication
• jacobsen syndrome