An autopsy case of Klinefelter’s syndrome suspected and its DNA analysis

Violent behaviors and Klinefelter syndrome: Two forensic cases from the past to the future

“…2,23 It has been shown that the number of supernumerary X chromosome is negatively correlated with intellectual development and with the height. 1,2,24 In subjects with atypical aneuploidy compared with those with XXY, the verbal scale is reduced, while the performance IQ is less reduced. 2 Language disabilities are also reported in KS patients and they are documented in 70-80% of XXY males, depending on estimates.…”

“…2,26 Language difficulties are associated with a dysfunctional lateralization. 1 Patients with KS shows difficulties in all tasks requiring the use of language skills, especially in the more complex aspects of expressive language, conditioned by the verbal memory, the recovery of words and verbal fluency. Functions, like understanding of grammar, syntactic expression of opinions, use of complex grammatical structures, are deficient in these patients.…”

“…15 "Klinefelter's syndrome is diagnosed by karyotype with more than two X-and one Y-chromosome". 1 At present, the most widely used methods for the determination of the genotypic sex using the detection of the Y chromosome in males. The cytogenetic analysis is considered the conventional method for the identification of sex and for the relief of other chromosomal aberrations.…”

“…Many individuals with KS have no medical issues and are thus underdiagnosed, whereas others have been diagnosed post-mortem. [1][2] Klinefelter, Reinfenstein and Albrigh were the first to describe in nine subjects a syndrome characterized by gynecomastia, azoospermia, hyalinized and small testes, elevated levels of follicle-stimulating hormone (FSH) and hypogonadism. 3 Recent brain imaging studies suggest a reduction in the brain volume including both white and gray matter tissue.…”