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Article

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

La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000

Dallapiccola B, Mingarelli R, Zelante L

Abstract excerpt

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...

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PMID: 8415186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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