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

Abstract

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… (More)

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@article{Dallapiccola1993CurrentAI, title={[Current advances in the cytogenetics and molecular biology of the diagnosis of malformation syndromes].}, author={Bruno Dallapiccola and Rita Mingarelli and Leopoldo Zelante}, journal={La Pediatria medica e chirurgica : Medical and surgical pediatrics}, year={1993}, volume={15 Suppl 1}, pages={10-3} }