De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome

  • Anil Vasudev Israni Maxcure Suyosha Woman & Child Hospital, Hyderabad, Telangana 500081
  • Anirban Mandal Sitaram Bhartia Institute of Science and Research, New Delhi 110016
Keywords: Aneuploidy, pre-conception genetic diagnosis, genetic counselling, trisomy

Abstract

The phenotypic expression in DS is determined by the type of underlying cytogenetic abnormality. Almost 90-95% cases of DS are due to pure trisomy of the 21st chromosome; 6-7% is the result of mosaicism and in only 3-5% of cases it results from Robertsonian translocation (ROB). About 1/3rd cases of unbalanced Robertsonian translocation causing DS are inherited. We report a 1-year-old-boy with DS secondary to rea(21;21) ROB.

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Author Biographies

Anil Vasudev Israni, Maxcure Suyosha Woman & Child Hospital, Hyderabad, Telangana 500081
Consultant Pediatric Neurologist
Anirban Mandal, Sitaram Bhartia Institute of Science and Research, New Delhi 110016
Consultant, Department of Pediatrics
Published
2017-10-04
How to Cite
Israni, A., & Mandal, A. (2017). De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome. Journal of Nepal Paediatric Society, 37(1), 92-94. https://doi.org/10.3126/jnps.v37i1.16184
Section
Case Reports