Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

Clinical Case Reports

Volumn 2, Issue 2, 2014, Pages 25-32

  Marcato, Livia ^a   Turolla, Licia ^b   Pompilii, Eva ^c,d   Dupont, Celine ^e   Gruchy, Nicolas ^f   De Toffol, Simona ^a   Bracalente, Gabriella ^b   Bacrot, Severine ^e   Troilo, Enzo ^d   Tabet, Anne C ^e   Rossi, Sabrina ^b   Delezoïde, Anne L ^e   Baldo, Demetrio ^b   Leporrier, Nathalie ^f   Maggi, Federico ^a   Molin, Arnaud ^f   Pilu, Gianluigi ^c,d   Simoni, Giuseppe ^a   Vialard, Francois ^g   Grati, Francesca R ^a  

^a Cytogenetics and Molecular Biology   (Italy)

^b ULSS 9 Treviso   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Gynepro Private Clinic   (Italy)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f CHU CÔTE DE NACRE   (France)

^g CENTRE HOSPITALIER INTERCOMMUNAL   (France)

Author keywords

Array CGH; phenotype; prenatal; prenatal BACs on beads; Williams Beuren critical region.

Indexed keywords

EID: 84938568469     PISSN: None     EISSN: 20500904     Source Type: Journal    
DOI: 10.1002/ccr3.48     Document Type: Article

References (35)

1. Strømme, P., P. G. Bjørnstad, and K. Ramstad. 2002. Prevalence estimation of Williams syndrome. J. Child Neurol. 17:269–271.
2. Merla, G., N. Brunetti-Pierri, L. Micale, and C. Fusco. 2010. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum. Genet. 128:3–26.
3. Stankiewicz, P., and J. R. Lupski. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet. 18:74–82.
4. Urbán, Z., C. Helms, G. Fekete, K. Csiszár, D. Bonnet, A. Munnich, et al. 1996. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am. J. Hum. Genet. 59:958–962.
5. Bayés, M., L. F. Magano, N. Rivera, R. Flores, and L. A. Pérez Jurado 2003. Mutational mechanisms of Williams-Beuren syndrome deletions. Am. J. Hum. Genet. 73:131–151.
6. Hillier, L. W., R. S. Fulton, L. A. Fulton, T. A. Graves, K. H. Pepin, C. Wagner-McPherson, et al. 2003. The DNA sequence of human chromosome 7. Nature 424:157–164.
7. Lupski, J. R. 1998. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14:417–422.
8. Li, D. Y., G. Faury, D. G. Taylor, E. C. Davis, W. A. Boyle, R. P. Mecham, et al. 1998. Novel arterial pathology in mice and humans hemizygous for elastin. J. Clin. Invest. 102:1783–1787.
9. Scott, R. W., and M. F. Olson. 2007. LIM kinases: function, regulation and association with human disease. J. Mol. Med. 85:555–568.
10. Sakurai, T., N. P. Dorr, N. Takahashi, L. A. McInnes, G. A. Elder, and J. D. Buxbaum. 2011. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions. Autism Res. 4:28–39.
11. Mervis, C. B., J. Dida, E. Lam, N. A. Crawford-Zelli, E. J. Young, D. R. Henderson, et al. 2012. Duplication of GTF2I results in separation anxiety in mice and humans. Am. J. Hum. Genet. 90:1064–1070.
12. Malenfant, P., X. Liu, M. L. Hudson, Y. Qiao, M. Hrynchak, N. Riendeau, et al. 2012. Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. J. Autism Dev. Disord. 42:1459–1469.
13. Morris, C. A., I. T. Thomas, and F. Greenberg. 1993. Williams syndrome: autosomal dominant inheritance. Am. J. Med. Genet. 47:478–481.
14. Ounap, K., P. Laidre, O. Bartsch, R. Rein, and M. Lipping-Sitska. 1998. Familial Williams-Beuren syndrome. Am. J. Med. Genet. 80:491–493.
15. Pankau, R., R. Siebert, M. Kautza, R. Schneppenheim, A. Gosch, A. Wessel, et al. 2001. Familial Williams-Beuren syndrome showing varying clinical expression. Am. J. Med. Genet. 98:324–329.
16. Sadler, L. S., L. K. Robinson, K. R. Verdaasdonk, and R. Gingell. 1993. The Williams syndrome: evidence for possible autosomal dominant inheritance. Am. J. Med. Genet. 47:468–470.
17. Van der Aa, N., L. Rooms, G. Vandeweyer, J. van den Ende, E. Reyniers, M. Fichera, et al. 2009. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur. J. Med. Genet. 52:94–100.
18. Vialard, F., G. Simoni, D. M. Gomes, A. Abourra, S. De Toffol, F. Bru, et al. 2012. Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat. Diagn. 32:329–335.
19. Dutra, R. L., C. Pieri Pde, A. C. Teixeira, R. S. Honjo, D. R. Bertola, and C. A. Kim. 2011. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers. Clinics 66:959–964.
20. Kontos, H., E. Manolakos, P. Malligiannis, N. Plachouras, N. Ploumis, M. Mihalatos, et al. 2008. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenat. Diagn. 28:556–558.
21. Howald, C., G. Merla, M. C. Digilio, S. Amenta, R. Lyle, S. Deutsch, et al. 2006. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J. Med. Genet. 43:266–273.
22. Schubert, C., and F. Laccone. 2006. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR. Int. J. Mol. Med. 18:799–806.
23. Krzeminska, D., C. Steinfeld, J. L. Cloez, M. Vibert, M. Chery, D. Menzies, et al. 2009. Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenat. Diagn. 29:710–712.
24. Popowski, T., F. Vialard, B. Leroy, J. P. Bault, and D. Molina-Gomes. 2011. Williams-Beuren syndrome: the prenatal phenotype. Am. J. Obstet. Gynecol. 205:e6–e8.
25. von Dadelszen, P., D. Chitayat, E. J. Winsor, H. Cohen, C. MacDonald, G. Taylor, et al. 2000. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am. J. Med. Genet. 90:270–275.
26. Vialard, F., G. Simoni, A. Aboura, S. De Toffol, D. Molina Gomes, L. Marcato, et al. 2011. Prenatal BACs-on-Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis. Prenat. Diagn. 31:500–508.
27. Gruchy, N., M. Decamp, N. Richard, C. Jeanne-Pasquier, G. Benoist, H. Mittre, et al. 2012. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA. Prenat. Diagn. 32:383–388.
28. Hall, J. G., U. G. Froster-Iskenius, and J. E. Allanson. 1989. Handbook of normal physical measurements. Oxford medical publications. Oxford Univ. Press, New York.
29. Salomon, L. J., J. P. Bernard, and Y. Ville. 2007. Estimation of fetal weight: reference range at 20–36 weeks' gestation and comparison with actual birth-weight reference range. Ultrasound Obstet. Gynecol. 29:550–555.
30. Pober, B. R. 2010. Williams-Beuren syndrome. N. Engl. J. Med. 362:239–252.
31. Pankau, R., C. J. Partsch, A. Gosch, H. C. Oppermann, and A. Wessel. 1992. Statural growth in Williams-Beuren syndrome. Eur. J. Pediatr. 151:751–755.
32. Pankau, R., C. J. Partsch, A. Neblung, A. Gosch, and A. Wessel. 1994. Head circumference of children with Williams-Beuren syndrome. Am. J. Med. Genet. 52:285–290.
33. Capossela, S., L. Muzio, A. Bertolo, V. Bianchi, G. Dati, L. Chaabane, et al. 2012. Growth defects and impaired cognitive-behavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the Williams-Beuren syndrome critical region. Am. J. Pathol. 180:1121–1135.
34. Torniero, C., B. Dalla Bernardina, F. Novara, R. Cerini, C. Bonaglia, T. Pramparo, et al. 2008. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. Eur. J. Hum. Genet. 16:880–887.
35. Orellana, C., J. Bernabeu, S. Monfort, M. Roselló, S. Oltra, I. Ferrer, et al. 2008. Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum. J. Med. Genet. 45:187–189.