Old and new syndromes

Giovanni Corsello

Abstract


What is a genetic syndrome? For a long time this definition was reserved to those patients with a set of features recurrent together, in which a genetic origin was certain or highly presuntive. Dysmorphic features, multiple malformations and mental retardations (MCA/MR) were main clinical elements in most of the patients. The authors of the first description frequently gave the eponimic name to these syndromes.The application of new molecular and cytogenetics technologies, such as FISH and array-CGH, has amplified in the last two decades the opportunity to identify new genetic conditions in patients with a clinical spectrum MCA/MR. Microdeletions and microduplications syndromes, telomeric rearrangements defects, genomic imprinting abnormalities, uniparental disomies,  are some examples of the so called “new genetic” syndromes.

 

Proceedings of the 11th International Workshop on Neonatology and Satellite Meetings · Cagliari (Italy) · October 26th-31st, 2015 · From the womb to the adult
Guest Editors: Vassilios Fanos (Cagliari, Italy), Michele Mussap (Genoa, Italy), Antonio Del Vecchio (Bari, Italy), Bo Sun (Shanghai, China), Dorret I. Boomsma (Amsterdam, the Netherlands), Gavino Faa (Cagliari, Italy), Antonio Giordano (Philadelphia, USA)


Keywords


genetic syndromes; multiple congenital anomalies; mental retardations; genomic imprinting

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