Case Report
JBCGenetics. 2020; 3(2): 113-117

Inherited Robertsonian translocation (13;14) in a child with Down's syndrome

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

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1592993055

Abstract

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


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2021. All Rights Reserved.

Inherited Robertsonian translocation (13;14) in a child with Down's syndrome


Authors
Srilekha Avvari
Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India
PubMed articlesGoogle scholar articles

Neelu Mishra
Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India
PubMed articlesGoogle scholar articles

Sujatha Madireddy
Institute of Genetics and Hospital for Genetic Diseases,Osmania University, Begumpet, Hyderabad, India
PubMed articlesGoogle scholar articles

Venkateshwari Ananthapur

PubMed articlesGoogle scholar articles


Correspondence to:
. Venkateshwari Ananthapur, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.; venkateshwari@yahoo.com

Publication history
Received 24 Jun 2020
Revised 21 Aug 2020
Accepted 12 Sep 2020
Published online 28 Sep 2020
Published in print 30 Sep 2020

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's 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's syndrome. https://www.jbcgenetics.com//?mno=118320 [Access: January 19, 2021]. 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's 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's syndrome. JBCGenetics. (2020), [cited January 19, 2021]; 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's 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's 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's 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's 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's syndrome. Journal of Biochemical and Clinical Genetics, 3 (2), 113-117. doi:10.24911/JBCGenetics/183-1592993055


Related Records


Click the icon of the social media platform on which you would like to share this article.