De novo robertsonian translocation t(21; 21) in a child with down syndrome

1Citations
Citations of this article
11Readers
Mendeley users who have this article in their library.

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.

Cite

CITATION STYLE

APA

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

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free