Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.     

A patient with Graves' disease, thrombocytopenia and chronic hepatitis B

A 22-year-old Chinese man, a HBsAg carrier, presented with relapse of thyrotoxic Graves' disease complicated by thrombocytopenia and hepatitis. Platelet count and liver enzymes gradually improved following successful treatment of the thyrotoxicosis with radioactive iodine. Possible pathogenetic links and therapeutic implications are discussed.     

The demography of limb dominance, body-mass index, and metatarsus adductus deformity

To test the null hypothesis that limb dominance (laterality) and side of complaint are not associated in a diverse population, nearly 400 patients (40% male, 60% female) of varying age and body size from three South Florida podiatric medical teaching facilities were surveyed in 1995-1996. Radiographs of feet were available for 15% of the patients, and the metatarsus adductus angle was measured on each x-ray. The typical patient was a women (median age, 49 years) of average body weight and average body-mass index. No statistical association was found between laterality and side of complaint in the broader sample, although a significant association did appear in the subsample of patients with bilateral x-rays. The prevalence of metatarsus adductus deformity (metatarsus adductus angle > 15 degrees) among patients with x-rays was 62%. No sex-specific, age-specific, or body size-specific associations were found between handedness and metatarsus adductus deformity.     

Exfoliatio areata linguae et mucosae oris: a mucous membrane manifestation of psoriasis pustulosa?

Lesions of the oral mucosa are frequently described in association with psoriasis, particularly in the pustular type. Controversy surrounds the question whether mucosal lesions can be considered as oral manifestation of psoriasis. Two patients presented with concurrent pustular psoriasis and mucosal lesions with the characteristic picture of geographic tongue. Histopathology of the mucosa showed typical features of psoriasis such as marked acanthosis, clubbing of the rete ridges, focal parakeratosis and neutrophilic infiltrates. There was parallel improvement of the skin and the mucosal lesions with systemic retinoid treatment. On the basis of the histopathological features and the clinical course we favour the hypothesis that geographic tongue is an oral manifestation of pustular psoriasis.     

Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.