Article: De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome
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.
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
Identifier
https://doi.org/10.3126/jnps.v37i1.16184
Citation
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