Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. At least five complementation groups (FA-A-FA-E) have been identified. The relative prevalence of FA-A has been estimated at an average of approximately 65% but may widely vary according to ethnic background. In Italy, 11 of 12 patients analyzed by cell-fusion studies were assigned to group FA-A, suggesting an unusually high relative prevalence of this FA subtype in patients of Italian ancestry. We have screened the 43 exons of the FAA gene and their flanking intronic sequences in 38 Italian FA patients, using RNA-SSCP. Ten different mutations were detected: three nonsense and one missense substitutions, four putative splice mutations, an insertion, and a duplication. Most of the mutations are expected to cause a premature termination of the FAA protein at various sites throughout the molecule. Four protein variants were also found, three of which were polymorphisms. The missense mutation D1359Y, not found in chromosomes from healthy unrelated individuals, was responsible for a local alteration of hydrophobicity in the FAA protein, and it was likely to be pathogenic. Thus, the mutations so far encountered in the FAA gene are essentially all different. Since screening based on the analysis of single exons by genomic DNA amplification apparently detects only a minority of the mutations, methods designed to detect alterations in the genomic structure of the gene or in the FAA polypeptide may be helpful in the identification of FAA mutations.

We report on a 17 6/12-year-old boy with nephronophthisis, retinitis pigmentosa, left upper eyelid ptosis, enopthalmos, transmissive deafness, GH and TSH deficiency, and mild skeletal dysplasia. A similar case was reported by Bianchi et al. [1988: Helv Paediatr Acta 43:449-455] in another Italian patient. Here we confirm the previous observations and argue that both patients might be affected by a new syndrome.

<p>Sanism is a devastating form of oppression, often leading to negative stereotyping or arguments that individuals with ‘mental health’ histories are not fit to study social work. However, the term sanism is rarely used, understood, or interrogated in the social work academy, even in anti-oppressive spaces. Indeed, social work has been so loyal to the medical model that sanist aggressions, such as pathologizing, labelling, exclusion, and dismissal have become a ‘normal’ part of professional practice and education. We query the moral integrity of a profession that at its foundational core could play a role in such a discriminatory tactic as sanism. We wonder what the effect of this has been on social work and its education. We ask, who has been excluded, what has been silenced or denied because of the privileging of medical conceptualizations of madness, and how can we work toward anti-sanist social work today? In this paper we provide an overview of sanism. We offer a more critical review of the literature on ‘mental health’ and social work. We report on our anti-sanist participatory pilot research, and aligned with current Canadian rights work, we call for action with respect to how social workers theorize, research, and respond to madness now. </p>

<p>Sanism is a devastating form of oppression, often leading to negative stereotyping or arguments that individuals with ‘mental health’ histories are not fit to study social work. However, the term sanism is rarely used, understood, or interrogated in the social work academy, even in anti-oppressive spaces. Indeed, social work has been so loyal to the medical model that sanist aggressions, such as pathologizing, labelling, exclusion, and dismissal have become a ‘normal’ part of professional practice and education. We query the moral integrity of a profession that at its foundational core could play a role in such a discriminatory tactic as sanism. We wonder what the effect of this has been on social work and its education. We ask, who has been excluded, what has been silenced or denied because of the privileging of medical conceptualizations of madness, and how can we work toward anti-sanist social work today? In this paper we provide an overview of sanism. We offer a more critical review of the literature on ‘mental health’ and social work. We report on our anti-sanist participatory pilot research, and aligned with current Canadian rights work, we call for action with respect to how social workers theorize, research, and respond to madness now. </p>

The precise origin of the supernumerary chromosome can be defined in the majority of trisomy 21 cases. This is achieved by evaluating the chromosome 21 short arm polymorphism and analysing restriction fragment length polymorphisms (RFLPs) of multiple chromosome 21 loci. We report a study on 37 Italian families with Down's syndrome. In 35 cases (94.6%) both the parental and the meiotic stage of non-disjunction could be established. Knowledge of the origin of the extra chromosome 21 is a pre-requisite for investigations of genetic or environmental factors that may affect the meiotic process.