A Case of Fraccaro Syndrome: Clinical Features, Cytogenetics, Fish and Qf-Pcr Study

Background and aim: 49, xxxxy syndrome is a rare sex chromosome polysomy with an approximate incidence of 1 in 85,000 male births. in 1960, fraccaro and colleagues described this clinical entity. fraccaro aneuploidy maybe emanates from non-disjunction of the x chromosome during meiosis division. these consecutive non-disjunctions will produce an egg with four x chromosomes when fertilized by a y generation sperm, results in an embryo with 49,xxxxy syndrome. the physical manifestations of fraccaro syndrome are often variable. in this study we mentioed clinical features of fraccaro syndrome and reported comparatively clinical presentation of a 19 years old male with fraccaro syndrome.methods: peripheral lymphocytes were cultured and gtg-banded using standard techniques. fifty metaphases were analyzed which showed a 49,xxxxy karyotype. chromosomal investigation of the father showed a normal 46,xy karyotype and the mother had a normal 46,xx karyotype. the karyotype result was confirmed by fish and qf-pcr techniques. fish analysis of 100 interphase nuclei, using cytocell probes for chromosomes x, y and 18 indicated four hybridization signals for chromosome x consistent with fraccaro syndrome. the karyotype and fish results were analyzed using geneasis 7.2 software (applied spectral imaging) and reported based on international system for human cytogenetic nomenclature (iscn)-2016.results: the patient physical examination showed hypogonadism, tall stature, gynecomastia, microcephaly, hypotonia, behavioral issues, speech problems, unusual teeth, small hands, small penis, masturbation and specific anomalies of bone structure. result of fish and qf-pcr were also confirmed 49,xxxxy syndrome in our patient.conclusion: the 49,xxxxy syndrome is a very rare but distinct clinical entity. when the following features are present in an undiagnosed male, a karyotype analysis may be indicated: behavioral issues, tall stature with long legs and arms, speech problems, kidney anomalies, hypogonadism, specific anomalies of bone structure and small penis. an early and open management of all clinical problems is important and long-term follow-up of patients with a klinefelter’s syndrome by the endocrinologist is mandatory. in our case masturbation were present that has been resolved successfully after hormone treatment.