Background The 48,XXXY syndrome is a rare sex chromosome aneuploidy, presenting characteristic features such as prominent facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation. Psychological, endocrinological, auxological issues and orthopedic disorders constitute the major problems in this syndrome, which require long term clinical and biochemical follow-up. Materials and Methods In the present investigation, chromosomal analysis (standard chromosomal karyotyping) and fluorescence in situ hybridization (FISH) was performed according to the standard protocols. Results Here, we report a single affected individual (boy) having Saudi origin, suffering from rare sex chromosomal aneuploidy. The main presenting complaint is the obvious dysmorphic features associated with developmental delay, epicanthal folds, short nose, prominent philtrum, low seated ears, and overlapping toes. Chromosomal analysis and fluorescence in situ hybridization (FISH) revealed an extra two X chromosomes thus causing the 48,XXXY syndrome. Conclusion Patients with facial dysmorphism, developmental delay, unexplained hypotonia and accompanying behavioral disturbances must be tested for sex chromosome aneuploidies. Management and proper diagnosis require a multidisciplinary approach involving pediatric endocrinology, pediatric surgery, orthopedics, psychiatry, and clinical genetic evaluations. Considering 48,XXXY syndrome as a highly severe disorder, cytogenetic tests should be performed as the first diagnostic approach.
Keywords: Sex chromosome aneuploidies, 48,XXXY syndrome, XXXY syndrome, Klinefelter syndrome variant
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