New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception

Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100 patients have been reported. Clinical manifestatio...

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Bibliographic Details
Main Authors: Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Italian Journal of Pediatrics
Subjects:
Chromosome 3
Contiguous gene syndrome
Prenatal diagnosis
ART
a-CGH
Case report
Online Access:https://doi.org/10.1186/s13052-023-01421-y

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