Recent studies suggest that a non‐isotopic in situ hybridisation (NISH) approach can be successfully employed to investigate the carrier status of female relatives in families of selected patients with Duchenne muscular dystrophy (DMD) or Hunter syndrome, whose diseases are due to a specific X chromosome deletion.Whilst the majority of metaphase spreads from normal females show specific hybridisation signals on both X chromosomes when tested with either dystrophin or Hunter gene‐derived probes, only one X chromosome in each metaphase spread will show (...) the relevant hybridisation complex in female carriers of deletions involving the dystrophin or Hunter gene.Thus, the NISH method can be a valuable diagnostic tool for the detection of the carrier status of female relatives of patients with X chromosome deletions. (shrink)

This contribution aims at discussing the presentation of the philosophical idea of book in Jacques Derrida, the opposition that Derrida draws between the philosophical idea of book on the one hand and writing on the other, and, above all, the ambiguous placing of Hegel in this opposition. Hegelian philosophical writing is for Derrida (and not only for him) a threshold beyond which the philosophy of the Book in its ‘total’ form is no longer possible. The aim, however, is to suggest (...) that what is “now underway in all domains”can’t be, as Derrida claims, the pure and simple “destruction of the book”, and it is doubtful that this will happen or could happen in favour of the denudation of the “surface of a text”. (shrink)

Selected aneuploidies can be rapidly diagnosed by the analysis of fluorescent polymerase chain reaction (PCR) products of chromosome‐specific and highly polymorphic small tandem repeats (STRs). The quantitative STR patterns obtained from samples of normal individuals are markedly different from those seen when patients with aneuploidies involving chromosome X, or trisomies of chromosomes 21 and 18, are tested. For example, while samples from normal subjects – tested with a chromosome 21‐derived STR (D21S11) – show two fluorescent PCR peaks with similar activities (...) in a 1:1 ratio, the analysis of samples from patients with trisomy 21 reveals the presence of either three peaks (ratio 1:1:1), or two peaks with a ratio of 2:1. The use of an internal non‐polymorphic marker allows identification of trisomic samples with three copies of the same allele. This rapid approach (24 hours) is particularly valuable when applied to prenatal diagnosis of chromosomal abnormalities since it reduces the time of anxiety of the parents waiting for the results of the conventional cytogenetic tests, which require several weeks. (shrink)