A Rare Case of XXXXY Syndrome with a (4;19) Translocation from Northeast Iran

Abstract

49, XXXXY syndrome is a rare chromosomal abnormality, often considered a variant of Klinefelter syndrome. Commonly referred to as Fraccaro syndrome, it is characterized by a unique phenotype and more severe clinical features compared to Klinefelter syndrome, including developmental delays, intellectual disabilities, and a range of congenital anomalies. We present the case of a 13-year-old boy from northeastern Iran with a confirmed karyotype of 49, XXXXY. Cytogenetic analysis revealed a unique feature: a concomitant t(4;19)(p16.2;q13.3) translocation, which has not been reported in previous studies. The patient exhibited key clinical features, including intellectual disability, speech difficulties, developmental delays, short stature, and facial abnormalities such as deep-set eyes and a prominent nasal tip. Additional findings included a small penis, testicular atrophy, recurrent severe urinary tract infections, a history of patent ductus arteriosus (PDA), dental
malformations, and hypotonia. The karyotype of 49, XXXXY, along with the observed clinical features, facilitated the diagnosis of Fraccaro syndrome. The identification of the novel t(4;19)(p16.2;q13.3) translocation adds a unique aspect to this case and highlights the need for further research to understand the potential impact of additional chromosomal abnormalities on this rare syndrome.