A 12 Year Old Boy With 49 Xxxxy Karyotype; A Case Report From Pakistan

49, XXXXY syndrome is a rare 1; 85,000-100,000 aneuploidic sex chromosome disorders. Back-ground: Our study comprises of a male patient born to a non-consanguineous family aged 12 years but the mental age is of 6 years. Low birth weight was reported with difficulty swallowing. He has moderately low IQ and has several behavioural problems like aggression, shyness and social awkwardness. He has a history of expressive receptive communication disorder. His developmental milestones were delayed. He has a history of fits leading to collapse. Methods: Karyotyping using peripheral blood was carried out to check for any possible chromosomal abnormality. Results: Chromosomal analysis revealed three extra copies of X chromosome in all cells along with an intact Y chromosome i.e. 49, XXXXY. Conclusion: presence of extra copies of X chromosomes is linked to multiple disorders in the present case. Prenatal amniocentesis would be of great help for early detection of such syndromes in future Keywords : 49, XXXXY Syndrome, aneuploidy, sex chromosome, Klinefilter syndrome variant.