A polymorphism (rs1042522) in TP53 gene is a risk factor for Down Syndrome in Sicilian mothers.

Objective: Trisomy 21 is the most frequent genetic cause of intellectual disability. Tumor Protein 53 (TP53) gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.

Genetic alteration in gastrointestinal cancer. A molecular and cytogenetic study.

We examined 16 cases of gastrointestinal cancer, of which 11 were from the colon, 1 from the rectum, and 4 of gastric origin, cytogenetically for expression and for loss of heterozygosity (LOH) on chromosome 18 using Deleted Colon Cancer (DCC) gene. LOH on chromosome 18 with DCC probe was detected in 7 out of 11 cases of colon, in 4 out of 4 cases of gastric and in 1 case of rectum cancer. In all gastrointestinal tumors the expression of DCC gene was absent, while it was present in normal tissue.

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.

Segregation analysis of autosomal fragile sites in three families with the fragile X chromosome.

Fragile sites on chromosomes 9, at 9p21, 10, at 10q25 and 12, at 12q24, were found in the lymphocytes of some members of three families during the study for detection of a fragile X chromosome. The sites were found to be heritable and folato-sensitive. The genetic implications of these results are discussed.

Fragile X expression in normal and mentally retarded subjects: effect of treatment with an antifolic agent.

Expression of the fragile site fra(X) (q27.3) in peripheral lymphocytes was evaluated in mentally retarded patients and in normal control individuals before and after administration of the antifolic agent trimethoprim for 7 days. This treatment was effective in converting the status of some individuals from fra(X)-negative to fra(X)-positive.