论文信息 - De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome

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

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.

A. Mandal | Anil V. Israni

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