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
