Cytogenetic Analysis of Referral Cases with Growth Failure and Clinical Suspicion of having Chromosomal Abnormality

Abstract

Background and Objective: Failure to thrive (FTT) is a sign that describes a particular problem rather than a diagnosis and explain growth failure or more advanced failure to gain weight appropriately. The aim of this study was to determine the prevalence and type of chromosomal abnormalities in patients presented with FTT. Materials and Method: One hundred FTT cases with clinical impression of having chromosomal abnormality referred for cytogenetic study during a period of 5 years (2007-2011) with age range from 5 month to 15 years. Chromosomal analysis was carried out for them. The standard protocol for peripheral blood lymphocyte culture was followed by metaphase chromosome preparation and conventional analysis of G-banded chromosomes. All analyses were performed using the SPSS soft ware package, version 18. Result: Fifteen cases showed karyotypic abnormality. The most common karyotype abnormality was aneuploidy resulted from monosomy of the chromosome X in girls. Conclusion: Turner syndrome with various forms of chromosomal complement is the most common chromosomal abnormality causing growth failure in girls.