3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Valérie Malan, Maria Luigia Cavaliere, Jean-Paul Girod, Christel Thauvin-Robinet, Salima El Chehadeh, Jean-Michel Pinoit, Frederic Huet, Bruno Verges, Jean-Michel Petit, Anne-Laure Mosca-Boidron, Nathalie Marle, Francine Mugneret, Alice Masurel-Paulet, Antonio Novelli, Zeynep TümerBart Loeys, Stanislas Lyonnet, Laurence Faivre

11 Citationer (Scopus)

Abstract

Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind51
Udgave nummer1
Sider (fra-til)21-7
Antal sider7
ISSN0022-2593
DOI
StatusUdgivet - jan. 2014

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