application of fluorescence in situ hybridization fish：荧光原位杂交技术在杂交育种中的应用.pdfVIP

© Kamla-Raj 2011 Int J Hum Genet, 11(3): 177-182 (2011) Application of Fluorescence in situ Hybridization (FISH) Technique to Discern Complete/Partial Monosomy 21 1 2 1 1* M. Jeevan Kumar , R. Ashok Kumar , T. Jayasudha and Kalpana Gowrishankar 1 Department of Medical Genetics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, Tamil Nadu, India 2 School of Bio Sciences and Technology, VIT University, Vellore, Tamil Nadu, India KEYWORDS Partial Monosomy. GTG. Interphase. Metaphase. FISH ABSTRACT The present study pertains to a 7 month old female infant who showed dysmorphic features and developmental delay. Conventional cytogenetic analysis by GTG banding technique was carried out and this revealed monosomy 21. Interphase FISH and metaphase FISH were employed for better delineation of the observed results. FISH analysis confirmed unbalanced X;21 translocation. This study concludes that FISH technique along with conventional cytogenetic analysis serves for better understanding and interpretation of complete/ partial autosomal monosomies. INTRODUCTION However, translocations involving X chromo- some and an autosome are rare, since most of Autosomal monosomies in humans are gen- such individuals are often infertile (Layman erally more unusual than the sex chromosomal 2002). So far, only about eight known cases of monosomies and are suggested to be incompat- unbalanced X;21 translocations have been re- ible with life as such cases have been occasion- ported worldwide (Cardoso et al. 2008; M