- the case definition for the syndrome of idiopathic cd4+ t-hymphocytopenia (1cl) includes a heterogeneity of disorders. as yet there have been very few published reports of chiulren who meet the whojcdc criteria and it is unclear whether icl is an acquired or inherited disorder. chiulren referred to a pacdiatric immunodeficiency unit between 1991 and 1993 for investigation of immunodeficiency ...

There is increasing information on the importance of genetic polymorphisms in human genes. Polymorphisms occur on average once every 500-1000 base pairs in the human genome and are useful in the identification of genes involved in human disease. Some genetic polymorphisms have functionally significant effects on the gene product and are the most useful type of polymorphism in disease associatio...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

investigation of inheritance, mode of gene action and determination of effective breeding strategy for improvement of physiological and morpho-physiological traits specifically in drought stress conditions is very important. to determine the inheritance pattern and genetic parameters of quantitative characters in bread wheat (triticum aestivum), p1, p2, bc1, bc2, f1, f2 generations derived from...

Recently multiple cutaneous leiomyomas, uterine leiomyoimatosis and renal cancer have been described as a cancer syndrome with autosomal dominant pattern of inheritance.We report a 79-year-old man who presented with multiple hyperkertotic erythematous nodules on his right leg with histological diagnosis of pilar leiomyoma. In his past medical history several systemic co...