Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Background: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular characterization of thrombocytopenia-absent radius syndrome is limited to a handful of patients mostly ascertained in the pediatric age. Case presentation. We report on a fetus with bilateral upper limb deficiency found at standard prenatal ultrasound examination. The fetus had bilateral radial agenesis and humeral hypo/aplasia with intact thumbs, micrognathia and urinary anomalies, indicating thrombocytopenia-absent radius syndrome. Molecular studies demonstrated compound heterozygosity for the 1q21.1 microdeletion and the RBM8A rs139428292 variant at the hemizygous state, inherited from the mother and father, respectively. Conclusion: The molecular information allowed prenatal diagnosis in the following pregnancy resulting in the birth of a healthy carrier female. A review was carried out with the attempt to the trace the fetal ultrasound presentation of thrombocytopenia-absent radius syndrome and discussing opportunities for second-tier molecular studies within a multidisciplinary setting. © 2013 Bottillo et al.; licensee BioMed Central Ltd

A morphometric study of Armeria canescens aggr. (Plumbaginaceae) in the Italian Peninsula

Armeria Willd. is a genus of diploid, self-incompatible plants with weak internal reproductive barriers, in which hybridisation and introgression play a fundamental role and are partly responsible for patterns of variation. One of the most critical groups in Italy comprises Armeria canescens (Host) Ebel and Armeriamajellensis Boiss., species living in grasslands and pastures of central and southern Apennines. The taxonomic status of A. majellensis is not clear: for some authors it must be considered as a species endemic to Italy, but according to others it must be included in A. canescens because of their poor morphological separation. With the aim of clarifying the real status of A. majellensis and its relationship with A. canescens, we performed a morphometric study using materials coming from field collections throughout their Italian distribution area, herbarium specimens and samples coming from the loci classici of the species. The morphometric multivariate analyses showed that there are no significant differences in morphology among the Italian sampled populations referable to A. canescens/A. majellensis and so they should be referred to the same biological entity. The priority name for the A. canescens/A. majellensis complex, at the specific level, is A. canescens

Morphological study of three taxa of the genus Rubus L. sect. Rubus (Rosaceae) in Western Central Italy

The three most frequent taxa of Rubus subgen. Rubus sect. Rubus in Western Central Italy are here examined from a morphological point of view. The study is based mostly on new collections. The morphological variability of each taxon is analyzed at the regional scale, and a complete description for the three entities is provided

Lectotypification of Statice canescens Host and Armeria majellensis Boiss. (Plumbaginaceae)

We designate lectotypes for Statice canescens Host [= Armeria canescens (Host) Ebel] and A. majellensis Boiss. (Plumbaginaceae), selected from the original material stored at the Herbarium of Naturhistorische Museum in Wien (W) and at the Herbarium of the Conservatoire et Jardin Botaniques de la Ville de Geneve (G), respectively

Ruolo e attualità degli erbari nello studio della biodiversità

Dopo un'introduzione su cosa è un erbario e su come si allestisce, si discutono i molteplici ruoli e l'attualità degli erbari. Si presenta in particolare il contributo fornito negli studi sulle entità vulnerabili, endemiche e rare della flora vascolare italiana

Salt glands of Armeria canescens (Host) Boiss. Morphological and functional aspects

The morphology and functionality of salt glands in four Italian Armeria canescens populations were investigated. Microscopic analysis showed that salt glands consist of 16 cells arranged in four quadrants, including four subsidiary cells and 12 gland cells. The main secreted elements are K, Ca and Cl, although qualitative and quantitative differences were observed between gland and subsidiary cells. Soil characteristics like texture, pH and C/N ratio were shown to vary between population sites. The highest number of glands per leaf area was found in plants from Ca-rich sites. Although A. canescens is not a halophilous species, its salt glands were revealed to be active, suggesting that they could represent an ancestral character