Mariaconcetta Giambirtone

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In the present study, we analysed a 31bp variable number of tandem repeats (VNTR) of the cystathionine ß-synthase (CBS) gene in 427 subjects: 127 patients with Down syndrome (DS) and in 60 of their mothers; 172 age-and sex-matched controls and in 68 of their mothers. A significant statistical difference in the distribution of the 21 repeat allele was found(More)
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.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with(More)
Mutations in the polymerase gamma-1 (POLG1) gene, encoding the catalytic subunit of the mtDNA-specific polymerase-γ, compromise the stability of mitochondrial DNA (mtDNA) and are responsible for numerous clinical presentations as autosomal dominant or recessive progressive external ophthalmoplegia (PEO), sensory ataxia, neuropathy, dysarthria and(More)
We report here a 6-year-old male child, admitted to Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS) (Troina, Italy), where a diagnosis was made of speech disorder, myoclonic epilepsy, and psychomotor delay. Seizures started at the third month of life and were characterized by myoclonic jerks involving the lower lip and the left(More)
Down’s syndrome (DS) is one of the most common numerical chromosomal aberrations, usually caused by trisomy of chromosome 21, and is the most frequent genetic cause of mental retardation. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without trisomy 21 (Wisniewski et al. 1985). It may be assumed that these(More)
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