Mahjoubi, FTotian, SKareeme, SShafegatee, Y2012-11-262012-11-262005-05Mahjoubi F, Totian S, Kareeme S, Shafegatee Y. Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features. Indian Journal of Human Genetics. 2005 May; 11(2): 111-113.http://imsear.searo.who.int/handle/123456789/143341Here we present a phenotypic description of a male child with trisomy 8p resulting from a maternal balanced reciprocal translocation. The patient presented with dysmorphic face, aplasia of the corpus callosum, and atrophy of cortex, congenital heart defect and marked hypotonia. The father had a normal karyotype. The mother had an apparently balanced translocation involving chromosomes 8 and 13 [46, XX, t(8;13)(p11.2;p12)]. The karyotype of the child was ascertained as 46, XY, der(13)t(8;13)(p11.2;p12). This is the second reported case of trisomy 8p resulting from a translocation between chromosomes 8 and 13. The chromosomal breakpoints in the two cases differed.enCardiac defectdevelopmental delaytranslocationtrisomy 8pArticle