Publication: De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Israni, Anil Vasudev | |
| dc.contributor.author | Mandal, Anirban | |
| dc.date.accessioned | 2026-02-09T07:10:08Z | |
| dc.date.available | 2026-02-09T07:10:08Z | |
| dc.date.issued | 2017 | |
| dc.description | Anil Vasudev Israni Maxcure Suyosha Woman & Child Hospital, Hyderabad, Telangana 500081 Anirban Mandal Sitaram Bhartia Institute of Science and Research, New Delhi 110016 | |
| dc.description.abstract | 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. | |
| dc.identifier | https://doi.org/10.3126/jnps.v37i1.16184 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/4595 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Aneuploidy | |
| dc.subject | pre-conception genetic diagnosis | |
| dc.subject | genetic counselling | |
| dc.subject | trisomy | |
| dc.title | De Novo Robertsonian Translocation t(21; 21) in a Child with Down Syndrome | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 94 | |
| oaire.citation.startPage | 92 | |
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