Il laboratorio TOMA pubblica un paper in collaborazione con gruppi francesi, spagnoli, finlandesi e di Hong-Kong. Esso si concentra sulla caratterizzazione di 24 casi prenatali con duplicazione 22q11.2 e sulle correlazioni genotipo-fenotipo. Il lavoro è stato pubblicato su Prenatal Diagnosis.
Dupont C1, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F.
1Unité de Cytogénétique, Département de Génétique, Hôpital Robert Debré-AP-HP, CHU Paris, Paris, France.
Prenat Diagn. 2015 Jan;35(1):35-43. doi: 10.1002/pd.4478. Epub 2014 Sep 16
Microduplication 22q11.2 is primarily characterized by a highly variable clinical phenotype, which ranges from apparently normal or slightly dysmorphic features (in the presence or absence of learning disorders) to severe malformations with profound mental retardation. Hence, genetic counseling is particularly challenging when microduplication 22q11.2 is identified in a prenatal diagnosis. Here, we report on 24 prenatal cases of microduplication 22q11.2.
We discuss the complexity of genetic counseling for microduplication 22q11.2 and comment on possible explanations for the clinical heterogeneity of this syndrome. In particular, we assessed the co-existence of additional CNVs and their contribution to phenotypic variations in chromosome 22q11.2 microduplication syndrome.
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