Carmela Ardisia

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A 36-year-old patient with a disorder characterized by severe mental retardation, behavioral problems, dysmorphic face, "muscular build," and hand/foot anomalies, is reported. Following a diagnosis of de novo pericentric inversion of chromosome 8 based on standard cytogenetic analysis, a subsequent 75 kb array-CGH investigation disclosed a deletion spanning(More)
We report on a 9-year-old female patient with facial anomalies and developmental delay, heterozygous for three de novo rearrangements: a paracentric inversion of chromosome 7, an apparently balanced translocation between chromosome 1 and 7, involving the same inverted chromosome 7, detected by standard cytogenetic analysis [46,XX, der(7)(More)
The expression of fragile sites induced by aphidicolin (APC) was evaluated on metaphase chromosomes obtained from the peripheral blood lymphocytes of 26 women with breast cancer and 15 sex- and age-matched normal controls. Both the proportion of damaged cells (P < 0.001) and the mean number of gaps and breaks per cell (0.02 < P < 0.05) were significantly(More)
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose MASA syndrome in a male fetus in a primigravida at the 29th week of gestation by sonographic(More)
In this work the authors studied the effects of interleukin-1 alpha on metabolic activities of human osteoblast-like cells in vitro. The bone nature of the cells was established by assaying for specific bone protein, the osteonectin, and the parathormone receptor, an osteoblast marker. Administration of interleukin-1 alpha to cultured osteoblasts produce an(More)
Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a girl with AIS lead us to identify a 6q deletion;12q duplication, derived from a maternal 6q;12q translocation.(More)
We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyotyping and FISH with whole chromosome 1 paint and BAC clone specific for 1q23-32 region were performed.(More)