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Down syndrome caused by 21; 21 robertsonian translocation

Authors:

D. U. A. Kollurage ,

Teaching Hospital, Peradeniya, LK
About D. U. A.
Professorial Paediatric Unit
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S. T. Kudagammana

Teaching Hospital, Peradeniya, LK
About S. T.

Professorial Paediatric Unit

 

Department of Paediatrics, Faculty of Medicine, University of Peradeniya

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Abstract

Down syndrome, also known as Trisomy-21, is the most common viable aneuploidy in humans. It was first described as a syndrome by John Langdon Down in 1866 and later Jerome Lejeune and Patricia Jacobs explained the association between the third copy of the 21st chromosome and syndromic manifestations. The usual incidence of Down syndrome is 1 in 700 live births. Of all cases of Down syndrome, 95% are caused by non-disjunction. Robertsonian translocation of 21; 21 is extremely rare. To the best of our knowledge, we are reporting the first case of 21;21 translocation causing Down syndrome from Sri Lanka.

How to Cite: Kollurage, D.U.A. and Kudagammana, S.T., 2018. Down syndrome caused by 21; 21 robertsonian translocation. Sri Lanka Journal of Medicine, 27(2), pp.43–45. DOI: http://doi.org/10.4038/sljm.v27i2.85
Published on 26 Dec 2018.
Peer Reviewed

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