Background: The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results: Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions: Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

Parte di uno scenario internazionale e facendo proprie le direzioni globali legate alla selezione e al controllo dei processi migratori, per molti versi l’Italia segue politiche migratorie condivise con altri stati europei o extraeuropei. Per altri, ha sviluppato nel tempo un suo modo di gestire le migrazioni e poi di raccontarle, frutto anche della sua posizione geografica nel centro del Mediterraneo. Senza perdere di vista lo scenario internazionale, questa raccolta raduna saggi sulle migrazioni volontarie e forzate che, guardando al contesto italiano, analizzano forme di governamentalità e di disciplina, violenza strutturale e potere coercitivo con l’intento di svelare gli effetti violenti che il loro esercizio ha sulle soggettività a cui sono rivolte

Pinelli, B., Bellagamba, A., Brivio, A., Ciabarri, L., Ribeiro Corossacz, V., Sorgoni, B. (2013). Antropologia. Migrazioni e asilo politico (B. Pinelli, a cura di). Ledizioni.

Antropologia. Migrazioni e asilo politico

Pinelli, B
2013

Abstract

Background: The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results: Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions: Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.
Pinelli, B; Bellagamba, A; Brivio, A; Ciabarri, L; Ribeiro Corossacz, V; Sorgoni, B
Migrazioni volonrtarie e forzate, soggettività, rifugiati, politiche dell'asilo, storie di vita, metodologia, rotta Libia-Italia, sessismo-razzismo, sofferenza sociale e violenza strutturale
Italian
mag-2013
2013
2013
9788867050963
15
155
Ledizioni
reserved
Pinelli, B., Bellagamba, A., Brivio, A., Ciabarri, L., Ribeiro Corossacz, V., Sorgoni, B. (2013). Antropologia. Migrazioni e asilo politico (B. Pinelli, a cura di). Ledizioni.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/73324
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