DNA Testing of Klinefelter's Syndrome in a Criminal Case Using XY Chromosomal STR Multiplex-PCR

Abstract

We report genetic typing of Klinefelter's syndrome applied to casework in forensic DNA testing. In this case, by using extracted DNA from body samples (muscle and bones), we could identify two distinct X alleles in two out of three X-STR loci (HPRTB and ARA), in addition to Y alleles (DYS390, DYS393). The extra X was found to have originated from father, and the victim turned out to have 47XXY Klinefelter's syndrome. The victim was a 30-year-old male, born from relatively elderly parents as a second child. His father was a severe alcoholic and had been malnourished for more than 20 years at the moment of his birth. He exhibited slight mental retardation as a child, and belonged to a criminal group as an adult. The method presented here was useful to accurately diagnose sex chromosomal abnormality instead of conventional chromosomal analysis and Xg blood group typing. A subtype of this syndrome, 48 XXXY or mosaic, for example, could be identified if the intensity of the overlapped X bands were calculated.

Sex identification of normal persons and sex reverse cases from bloodstains using FISH and PCR

“…Klinefelter males may be encountered in the crime scene as victims 26 or offenders 27 as these males are more prone to psychiatric disorders due to their hypogonadism. 28 The same applies to persons with sex anomalies as they are subjected to individual and societal attitudes and ideologies that lead to intimidation, bullying, teasing, physical assault, rape, and murder.…”

Applications of X-Chromosome Short Tandem Repeats for Human Identification: A Review

“…The X-STRs results revealed that the presence of two X chromosomes (6 heterozygotes and 6 homozygotes) instead of a single haplotype (typical male) which concluded that the victim had the Klinefelter syndrome (XXY) [21]. In another case, Honda et al [89] reported on the utilization of X-STRs in identifying the victim (from muscle and bones) of a murder case. The identification of two distinct X alleles in two X-STRs loci confirmed that the victim was suffering from Klinefelter's syndrome.…”

Allele frequency present within the DYS635, DYS437, DYS448, DYS456, DYS458, YGATA H4, DYS389I, DYS389II, DYS19, DYS391, DYS438, DYS390, DYS439, DYS392, DYS393, DYS385a and DYS385b of unrelated individuals in Iraq

“…Allelic genotyping of STRs does not require the use of complex molecular techniques, since amplifications and visualization of PCR products make it easy. Ychromosome specific STRs (Y-STRs) are chosen as more informative in paternity testing, forensic applications and the study of population histories due to the haploid state of Y chromosome which ensures both the transmittance by the paternal lineages and the lack of recombination in NRY, excluding pseudoautosomal regions (PARs) (Betz et al, 2001;Corach et al, 2001;Dekairelle and Hoste, 2001;Honda et al, 2001;Gill et al, 2004). Allelic and haplotypic distributions of Y-STRs have shown significant differences in different geographical regions, ethnical groups and communities (Alaves et al, 2003;Gusmao et al, 2003;Rustamov et al, 2004;Yan et al, 2007).…”