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Biomedical subjects

B Dallapiccola

Publications and source records attributed to B Dallapiccola.

468 records · Page 26Linked to original sources
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Fanconi's anemia.

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Anemia, Aplastic↗
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[Fanconi's anemia: in vitro tests for the individualization of heterozygotes].

Fanconi's anaemia (FA) is an autosomal recessive mutation associated with constitutional chromosome aberrations. Patient's cells show increased susceptibility to different mutagens, especially bifunctional alkylating agents. Asymptomatic heterozygotes have a population prevalence of 1 in 300, and have been considered at risk for cancers. It has also been shown that their cells are especially sensitive to some chemicals in vitro. Laboratory tests are presented and discussed which are adequate for FA heterozygotes identification and for understandings the basic defect of this mutation.

Anemia, Aplastic↗
PubMedDate not supplied

[Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes].

Consistent progress has been obtained in recent years in the diagnosis and understanding of genetic disease. High resolution chromosome analysis has narrowed the gap between cytogenetics and Mendelism by proving that some diseases considered to be due to monogenic inheritance result in fact from deletion of contiguous genes or breakage of a specific gene. Gene "imprinting" has been found to be the cause of some syndromes, such as the Prader-Willi, Angelman, and Beckwith-Wiedemann. Molecular cytogenetics has become a tool for analysing small rearrangements not easily seen using traditional chromosome analysis, for detecting mosaicisms, and narrowing the "critical" regions of chromosomal syndromes. "Positional cloning" techniques have improved our ability to map disease-genes. Linkage studies and direct analysis of cloned genes are now having a large impact on the analysis of genetic diseases segregating in families, and in testing for healthy heterozygotes and presymptomatic patients. Discovery of mutations in the mitochondrial genome has widened our understanding of disease inheritance. A few disorders have been shown to be due to tandem amplification of GC-rich intragenic triplets. Genetic counseling has taken advantage of these improvements which have a large impact on our knowledge of genetic heterogeneity and variability.

Chromosome Aberrations↗
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The search for hemizygosity at 22qll in patients with isolated cleft palate.

The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate. (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hydridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP.

Adolescent↗