1 of 2 DESCRIPTION Gorlin syndrome (basal cell nevus syndrome or nevoid basal cell carcinoma syndrome) is an uncommon but, well known, autosomal dominant cancer syndrome. 1 This condition affects the hands commonly. 2 However the hand is not the common presenting clinical feature. 2 We wish to present an unusual presentation of Gorlin’s syndrome which has not been noted in the literature previo...

genetically heterogeneous group of neurodegenerative disorders caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansions. Machado Joseph Disease (MJD) or SCA-3 was originally described in the Portuguese Azores islands and currently it is the most common autosomal dominant SCA worldwide. It is caused by CAG repeat expansion in the exon 10 of the MJD gene which codes for the ataxin...

Gliomatosis cerebri is a rare condition in which the brain is infiltrated by an exceptionally diffusely growing glial cell population involving at least 2 lobes, though often more extensive, sometimes even affecting infratentorial regions. The neoplastic proliferation may have a monoclonal origin, or alternatively, reflect progressive neoplastic change of an entire tissue field ("field canceriz...

In the July 15, 1990 issue, Meeker et all described the molecular events underlying the (5;14)(q31;q32) translocation that occurs in acute lymphocytic leukemia (ALL) of B-lineage associated with eosinophilia. Observations of specific chromosomal translocations such as the t(5;14), which are associated with hematopoetic malignancies displaying a unique biologic or clinical characteristic, are im...

12. Ximeri M, Galanopoulos A, Klaus M, Parcharidou A, Giannikou K, Psyllaki M, et al. Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndromes associated with chromosome 5q deletion. Haematologica. 2010;95(3):406-14. 13. Bartlett JB, Dredge K, Dalgleish AG. The evolution of thalidomide and its IMiD derivatives as anticancer agents. Nat Rev Cancer. 2004;4(4):314...

The most common genetic alteration identified to date in bladder cancer is loss of heterozygosity (LOH) of chromosome 9, suggesting the presence of possible tumor suppressor genes on this chromosome. We attempted to map the location of these genes by analyzing 69 primary transitional cell carcinomas of the bladder with a panel of microsatellite markers for LOH on chromosome 9. Monosomy 9 (defin...

Silver-Russell syndrome (SRS) (MIM 180860) is characterised by intrauterine and postnatal growth restriction, in association with dysmorphic features most frequently including a small triangular facies, skeletal asymmetry, and fifth finger clinodactyly. The genetic aetiology of SRS is heterogeneous. Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in 7-10% of patients, 5 with stron...

Choriocarcinoma is a unique neoplasm that can occur after a pregnancy, as a component of germ cell tumors, or follow the trophoblastic differentiation of neoplastic somatic cells that completely lose their normal phenotype and produce hCG. Gestational Choriocarcinoma (GC) and Nongestational Choriocarcinoma (NGC) are pathologically and morphologically similar, but differ in genetic origin, immun...

I diopathic epilepsies have a genetic basis and are characterised by the absence of an overt underlying neurological abnormality. Most idiopathic epilepsies are complex diseases with considerable clinical and genetic heterogeneity and an unclear inheritance pattern because of genetic and environmental factors. Families in which the disease segregates as an autosomal dominant trait with reduced ...