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Imprinting-clin 2011.pdf - Università degli Studi di Torino

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3° meccanismo SRS ( raro)<br />

Rearrangements of paternal chromosome 11p15 cause SRS<br />

Gronskov et al. J Med Genet. 2011 May;48(5):308-11<br />

4° meccanismo SRS duplicazione mat, riarrangiamenti 11p (raro)<br />

Eggermann t et al Am J Med Genet 152A 1484-87,2010<br />

5° meccanismo SRS (raro)<br />

Ipometilazione <strong>di</strong> geni multipli materni imprintati<br />

HIL MEST, PLAG1, IGFR2,IGFR2R, KCNQ1OT1, H19<br />

Gnas/NESPAS,GRB1.<br />

4 pazienti SRS su 79 IUGR 2 con HILTurnet Cl<br />

Eur J Hum Genet. 2010 Jun;18(6):648-55

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