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

Authors

  • Anil Vasudev Israni Maxcure Suyosha Woman & Child Hospital, Hyderabad, Telangana 500081
  • Anirban Mandal Sitaram Bhartia Institute of Science and Research, New Delhi 110016

DOI:

https://doi.org/10.3126/jnps.v37i1.16184

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

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Published

2017-10-04

How to Cite

Israni, A. V., & 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

Issue

Vol. 37 No. 1 (2017)

Section

Case Reports

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