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Diagnosi prenatale ed ecografia in gravidanza - Age.Na.S.

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Capitolo 8 • Tecniche genetiche <strong>in</strong> diagnosi <strong>prenatale</strong> 185<br />

9. Burke W. Genetic test<strong>in</strong>g. N.Engl.J M<strong>ed</strong>. 2002;347:1867-75.<br />

10. Liehr T. Cytogenetic contribution to uniparental disomy<br />

(UPD). Mol Cytogenet. 2010 Mar 29;3:8.<br />

11. Mattes J, Whitehead B, Liehr T, et al. Paternal uniparental<br />

isodisomy for chromosome 14 with mosaicism for a<br />

supernumerary marker chromosome 14. Am J M<strong>ed</strong> Genet<br />

A. 2007 Sep 15;143A(18):2165-71.<br />

12. von Beust G, Sauter SM, Liehr T, et al. Molecular<br />

cytogenetic characterization of a de novo supernumerary<br />

r<strong>in</strong>g chromosome 7 result<strong>in</strong>g <strong>in</strong> partial trisomy, tetrasomy,<br />

and hexasomy <strong>in</strong> a child with dysmorphic signs, congenital<br />

heart defect, and developmental delay. Am J M<strong>ed</strong> Genet A.<br />

2005 Aug 15;137(1):59-64. Review.<br />

13. Bartels I, Schlueter G, Liehr T, von Eggel<strong>in</strong>g F, Starke<br />

H, Glaubitz R, Burfe<strong>in</strong>d P. Supernumerary small marker<br />

chromosome (SMC) and uniparental disomy 22 <strong>in</strong> a child<br />

with conf<strong>in</strong><strong>ed</strong> placental mosaicism of trisomy 22: trisomy<br />

rescue due to marker chromosome formation. Cytogenet<br />

Genome Res. 2003;101(2):103-5.<br />

14. Giard<strong>in</strong>a E, Peconi C, Cascella R, et al, Bramanti P,<br />

Novelli A Multiplex molecular assay for the detection<br />

of uniparental disomy for human chromosome 7. G.<br />

Electrophoresis. 2009 Jun;30(11):2008-11.<br />

15. Blancquaert, I and Caron, L. Fragile X Syndrome:The<br />

role of molecular diagnosis and screen<strong>in</strong>g <strong>in</strong> an <strong>in</strong>tegrat<strong>ed</strong><br />

approach to services. 1-176. 2002. Quebec, <strong>Age</strong>nce<br />

d'Evaluation des Technologies et des Modes d' Intervention<br />

en Sante (AETMIS).

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