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Journals and Conferences
The 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the 8p23.1 duplication syndrome has been described at prenatal diagnosis only once and we report our experience with four further apparent duplications ascertained at… (More)
A discrepancy is reported between the karyotype of both direct and cultured chorionic villus cells (46,XX) and a fetal skin biopsy (47,XX, +18). The significance of this result is discussed and compared with similar discordant findings reported in the literature.
Analysis of hybrid cells containing fragments of human chromosome 2 has resulted in the regional localization of a gene for aryl hydrocarbon hydroxylase (AHH). Hybrids prepared from a human cell line containing an established translocation have shown that AHH can be localized to the region 2q31----2pter.
The diagnosis and management of a heterokaryotypic monochorionic pregnancy, in which one of twins had trisomy 13, is presented. Monozygosity and discordant karyotypes were confirmed by amniocentesis of both the sacs. Radiofrequency ablation of the trisomic twin was successfully performed at 18-weeks gestation and the pregnancy ended at term with the birth… (More)