Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8. Issue 1 (January 2017)

• Record Type: Journal Article
• Authors: Ismail, Samira; Kamel, Alaa K.; Eid, Maha M.; Elruby, Mona O.; Aglan, Mona S.; Mekkawy, Mona K.; Zaki, Maha S.; Mohamed, Amal M.; Helmy, Nivine A.; Temtamy, Samia A.
• Is Part Of: Middle East journal of medical genetics. Volume 6:Issue 1(2017:Jan.)
• Publication Date: 2017-01
• Subjects: fluorescence in situ hybridization -- malignancy -- mosaic trisomy 8 -- tissue mosaicism; Medical genetics -- Periodicals; Medical genetics -- Middle East -- Periodicals; Genetic disorders -- Periodicals; Genetic disorders -- Middle East -- Periodicals; Genetic Diseases, Inborn -- Middle East -- Periodicals; Genetics, Medical -- Middle East -- Periodicals; 616.042
• DOI: 10.1097/01.MXE.0000511080.21083.0a
• Languages: English
• ISSNs: 2090-8571

Abstract

Abstract : Background: Constitutional mosaic trisomy 8 causes a well-described syndrome with an extremely variable phenotype. Patients with this syndrome have characteristic facial features. In addition, they may have anomalies affecting limbs, the heart, the central nervous system, and kidneys. They may have developmental delay that varies from mild to severe. Moreover, they have an increased tendency to develop hematologic malignancies and solid tumors. Aim: In this study we describe three patients with a phenotype consistent with mosaic trisomy 8 of variable severity. Patients and methods: Patients were subjected to detailed history taking and thorough clinical examination. Cytogenetic studies including fluorescence in situ hybridization of peripheral blood lymphocytes and buccal mucosal swab were conducted. Results: Peripheral blood kayotyping was performed for all patients. It revealed trisomy 8 in 80–100% of peripheral blood lymphocytes. However, using fluorescence in situ hybridization on buccal swab cells obtained from one patient detected trisomy 8 cell line in only 10% of cells. Conclusion: The difference in the percentages of the trisomic cell line between different tissues may influence the apparent variability in the clinical severity.