Background: Down's syndrome is a genetic disorder caused by abnormal cell division, resulting in extra genetic material from chromosome 21. Non-homologous Robertsonian translocation (RT) between chromosomes 13 and 14 is a common genetic abnormality seen in couples with reproductive failure. The present report highlights the co-occurrence of Down's syndrome with RT of chromosomes 13 and 14. Case Presentation: A 6-month-old male child, born to second-degree consanguineous parents, was referred to our institute for the conventional karyotyping method. Peripheral blood cultures were set up following the standard protocol for karyotype analysis, which revealed Down’s syndrome and non-homologous RT between chromosomes 13 and 14 in the child, inherited from his mother. A normal karyotype was found in the father. Conclusion: The study highlights the importance of cytogenetic analysis in detecting additional chromosomal abnormalities in syndromic children.
Keywords: Developmental delay, Down's syndrome, karyotype, Robertsonian translocation
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Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. JBCGenetics. 2020; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. https://www.jbcgenetics.com//?mno=118320 [Access: January 19, 2021]. doi:10.24911/JBCGenetics/183-1592993055
Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. JBCGenetics. 2020; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. JBCGenetics. (2020), [cited January 19, 2021]; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari, S., Mishra, . N., Madireddy, . S. & Ananthapur, . V. (2020) Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. JBCGenetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. 2020. Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. Journal of Biochemical and Clinical Genetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down's syndrome." Journal of Biochemical and Clinical Genetics 3 (2020), 113-117. doi:10.24911/JBCGenetics/183-1592993055
Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down's syndrome." Journal of Biochemical and Clinical Genetics 3.2 (2020), 113-117. Print. doi:10.24911/JBCGenetics/183-1592993055
Avvari, S., Mishra, . N., Madireddy, . S. & Ananthapur, . V. (2020) Inherited Robertsonian translocation (13;14) in a child with Down's syndrome. Journal of Biochemical and Clinical Genetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055