JBCGenetics |

Case Report

Volume: 3 | Issue: 2 | Published: Sep 28, 2020 | Pages: 113 - 117 | DOI: 10.24911/JBCGenetics/183-1592993055

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

Authors: Srilekha Avvari , Neelu Mishra , Sujatha Madireddy , Venkateshwari Ananthapur

Article Info

Authors

Srilekha Avvari

Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India

Neelu Mishra

Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India

Sujatha Madireddy

Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India

Venkateshwari Ananthapur

Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India

Publication History

Received: June 24, 2020

Revised: August 21, 2020

Accepted: September 12, 2020

Published: September 28, 2020

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.

Keywords: Developmental delay, Down's syndrome, karyotype, Robertsonian translocation

Pubmed Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBC Genetics. 2020; 28 (September 2020): 113-117. doi:10.24911/JBCGenetics/183-1592993055

Web Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. https://www.jbcgenetics.com/index.php/articles/2163 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1592993055

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur. Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBC Genetics. (2020), [cited April 27, 2025]; 28 (September 2020): 113-117. doi:10.24911/JBCGenetics/183-1592993055

Harvard Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur (2020) Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. JBC Genetics, 28 (September 2020): 113-117. doi:10.24911/JBCGenetics/183-1592993055

Chicago Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down Syndrome." 28 (2020), 113-117. doi:10.24911/JBCGenetics/183-1592993055

MLA (The Modern Language Association) Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur. "Inherited Robertsonian translocation (13;14) in a child with Down Syndrome." 28.September 2020 (2020), 113-117. Print. doi:10.24911/JBCGenetics/183-1592993055

APA (American Psychological Association) Style

Srilekha Avvari, Neelu Mishra, Sujatha Madireddy, Venkateshwari Ananthapur (2020) Inherited Robertsonian translocation (13;14) in a child with Down Syndrome. , 28 (September 2020), 113-117. doi:10.24911/JBCGenetics/183-1592993055