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.
CITATION STYLE
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
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