Search citation statements
Paper Sections
Citation Types
Year Published
Publication Types
Relationship
Authors
Journals
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.
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.
Introduction- Etiology of mental retardation is multi-factorial which include various genetic and environmental factors. Minor physical anomalies are commonly observed in these children. Abnormal palmar creases are one of them. Aim-To compare prevalence of abnormal palmar creases in children with mental retardation and typically developing children. Methodology- Case controlled cross sectional study conducted on children with mental retardation and typically developing normal children. Photographs of palm were clicked using high resolution camera, digitally saved and evaluated later on. Results- The prevalence of abnormal palmar creases is increased in children with mental retardation. Correlation between increasing severity of mental retardation and abnormal palmar creases was noticed only in the right hand. Conclusion- Abnormal palmar creases are one of the minor physical anomalies found in children with mental retardation. Its presence would prompt clinicians for early screening and diagnosis which would increase possibility of early intervention.
Introduction:The study aimed at comparing both the dermatoglyphic and anthropometric features of the strength of palmar prehension people with of Down´s Syndrome, users of the FUNAD in the city of João Pessoa -Paraíba -Brazil. Materials and Methods: Thirty individuals with age between 10 and 30 years-old were assessed (male, n = 18; female, n = 12). Thus, the body mass, the height, the body mass index, the strength of palmar prehension and the palmar fi ngerprint complex were identifi ed. The Shapiro-Wilk test verifi ed the distribution of normality, whereas the non parametric data were verifi ed with the Mann-Whitney test and the parametric data with the Student's "t" test. The signifi cance level (p < 0.05) was used. Results: It was verifi ed that among the three investigated variables there were no signifi cant differences neither in the anthropometry nor in the dermatoglyphics, being the strength statistically different with absolute strength (p=0.00) and relative total strength (p=0.01). There was prevalence of the ulnar loop type in 55% of men and 42% of women, with the Simian line being identifi ed in both hands. Discussion: It was thus concluded that the bearers of Down Syndrome reveal specifi c features in the anthropometrics, muscular strength and dermatoglyphics when observed in terms of sexes.Introducción: El estudio ha tenido como objetivo comparar las características antropométricas, de la fuerza de la presión palmar y dermatoglíficas de los portadores de Síndrome de Down, usuarios de la "Fundação Centro Integrado de Apoio ao Portador de Deficiência" -FUNAD -João Pessoa -PB -Brasil. Materiales y Métodos: Fueron evaluados 30 individuos con edad entre 10 a 30 años (masculino, n = 18; femenino, n = 12). De esa manera se ha identificado la masa corpórea, la estatura, el índice de masa corpórea, la fuerza de prensión palmar y el complejo digito palmar. Se ha utilizado la prueba de Shapiro-Wilk para verificar la distribución de los resultados en cuanto a la normalidad, la prueba U de Mann-Whitney para comparar los datos no paramétricos y la prueba t de Student para los paramétricos, siendo éstos analizados con el nivel de acepción (p<0,05). Resultados: Entre estas variables investigadas, se ha verificado que no hubo diferencias significativas en la antropometría y en la dermatoglifia, siendo la fuerza estadísticamente diferente con fuerza absoluta (p=0,00) y fuerza relativa total (p=0,01). Hubo predominio del diseño presilla del tipo ulnar, con relación a la línea Simiesca su presencia ha sido de 55% en los hombres y 42% en las mujeres, en las dos manos. Discusión: Se concluyó que los portadores de Síndrome de Down presentan características específicas en la antropometría, fuerza muscular y dermatoglifia cuando observados los sexos. PALABRAS CLAVEAntropometría, Fuerza muscular, Dermatoglifi a, Síndrome de Down.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.