E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
28 / 09 / 2020

 


Inherited Robertsonian translocation (13;14) in a child with Down Syndrome

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur.


Abstract
Background: Down 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 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 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.

Key words: Developmental delay, Down's syndrome, karyotype, Robertsonian translocation


 
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How to Cite this Article
Pubmed Style

Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBCGenetics. 2020; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055


Web Style

Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. https://www.jbcgenetics.com/?mno=118320 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1592993055


AMA (American Medical Association) Style

Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBCGenetics. 2020; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055



Vancouver/ICMJE Style

Avvari S, Mishra N, Madireddy S, Ananthapur V. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBCGenetics. (2020), [cited March 14, 2024]; 3(2): 113-117. doi:10.24911/JBCGenetics/183-1592993055



Harvard Style

Avvari, S., Mishra, . N., Madireddy, . S. & Ananthapur, . V. (2020) Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBCGenetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055



Turabian Style

Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. 2020. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. Journal of Biochemical and Clinical Genetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055



Chicago Style

Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down Syndrome." Journal of Biochemical and Clinical Genetics 3 (2020), 113-117. doi:10.24911/JBCGenetics/183-1592993055



MLA (The Modern Language Association) Style

Avvari, Srilekha, Neelu Mishra, Sujatha Madireddy, and Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down Syndrome." Journal of Biochemical and Clinical Genetics 3.2 (2020), 113-117. Print. doi:10.24911/JBCGenetics/183-1592993055



APA (American Psychological Association) Style

Avvari, S., Mishra, . N., Madireddy, . S. & Ananthapur, . V. (2020) Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. Journal of Biochemical and Clinical Genetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055





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