Search results for "microform"
showing 3 items of 3 documents
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
Geomorphological, chemical and physical study of “calanchi” landforms in NW Sicily (southern Italy)
2012
Abstract This work deals with an integrated geomorphological and chemical–physical study of “calanchi” landforms in two sites (Ottosalme and Catalfimo) of NW Sicily (southern Italy), developed on dominant silty-clay deposits. The calanchi fronts are characterized by different morphological features and dominant geomorphic processes. Sharp knife-edged ridges and concentrated water runoff dominate at Ottosalme, and smoother landforms affected by mass movements (mud flows and translational slides) prevail at Catalfimo. We focused on some geochemical and physical parameters such as pH , total dissolved salts, sodium adsorption ratio ( SAR ), porosity, plastic and liquid limits as possible cause…