49,XXXXY syndrome is a very rare condition that is associated with a considerable more severe phenotype than classic 47,XXY Klinefelter syndrome. We present a patient with 49,XXXXY syndrome, who was first presented to an endocrinological unit at the age of 12.5 years with prepubertal genitalia.
View Article and Find Full Text PDFA girl with mild psychomotoric retardation, dysmorphic stigmata, feeding difficulties and recurrent infections is described, who has been observed from the age of 7 months to 3 2/12 years. Chromosomal analysis revealed an unbalanced X-autosomal translocation between the greater parts of the long arm of an X-chromosome and the long arm of an chromosome 8 resulting in a partial trisomy 8q and partial monosomy Xq.
View Article and Find Full Text PDFA newborn male with multiple malformations and an extrachromosome is presented. The cytogenetic study of peripheral blood lymphocytes revealed tetrasomy 9p: 47,XY, + t(9;9)(pter----q13::p11----pter). The C-banding pattern provided evidence for maternal origin of the extrachromosome.
View Article and Find Full Text PDFDtsch Z Mund Kiefer Gesichtschir
June 1985
Reversed phase HPLC has been applied to the isolation and quantitative distribution of valepotriates in roots and aerial parts of species and subspecies of the North American Genus PLECTRITIS (Valerianaceae) and in VALERIANA SITCHENSIS ssp. SCOULERI (Valerianaceae). A semipreparative Ultrasphere ODS column was used for separation and detection of small quantities of valepotriates in crude plant extracts.
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