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Case Reports in Genetics
Volume 2015, Article ID 517678, 6 pages
http://dx.doi.org/10.1155/2015/517678
Case Report

A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, 2370 Nicosia, Cyprus
2Department of Genetics and Molecular Biology, General, Maternity, and Pediatric Clinic Mitera, Erythrou Stavrou 6, 15123 Athens, Greece
3Department of Pathology, Medical School, University of Athens, Mikras Assias 75, 11527 Athens, Greece

Received 21 October 2014; Revised 22 December 2014; Accepted 13 January 2015

Academic Editor: Maria Descartes

Copyright © 2015 Carolina Sismani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. S. Rotmensch, M. Liberati, J. S. Luo, G. Tallini, M. J. Mahoney, and J. C. Hobbins, “Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41),” Prenatal Diagnosis, vol. 11, no. 11, pp. 867–873, 1991. View at Publisher · View at Google Scholar · View at Scopus
  2. C. P. Chen, S. R. Chern, F. J. Tsai et al., “Prenatal diagnosis of partial monosomy 1q (1q42.3→ qter) associated with hydrocephalus and corpus callosum agenesis,” Genetic Counseling, vol. 21, no. 4, pp. 451–455, 2010. View at Google Scholar · View at Scopus
  3. N. Wagner, E. Guengoer, U. A. Mau-Holzmann et al., “Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q43) in first-trimester screening: is there a characteristic antenatal 1q deletion phenotype? A case report and review of the literature,” Fetal Diagnosis and Therapy, vol. 29, no. 3, pp. 253–256, 2011. View at Publisher · View at Google Scholar · View at Scopus
  4. Y. van Bever, L. Rooms, A. Laridon et al., “Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype,” American Journal of Medical Genetics Part A, vol. 135A, no. 1, pp. 91–95, 2005. View at Publisher · View at Google Scholar · View at Scopus
  5. B. C. Ballif, J. A. Rosenfeld, R. Traylor et al., “High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44,” Human Genetics, vol. 131, no. 1, pp. 145–156, 2012. View at Publisher · View at Google Scholar · View at Scopus
  6. S. C. S. Nagamani, A. Erez, C. Bay et al., “Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44,” European Journal of Human Genetics, vol. 20, no. 2, pp. 176–179, 2012. View at Publisher · View at Google Scholar · View at Scopus
  7. S. J. Perlman, S. Kulkarni, L. Manwaring, and M. Shinawi, “Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions,” The American Journal of Medical Genetics, Part A, vol. 161, no. 4, pp. 711–716, 2013. View at Publisher · View at Google Scholar · View at Scopus
  8. G. Thierry, C. Bénéteau, O. Pichon et al., “Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures,” American Journal of Medical Genetics, Part A, vol. 158, no. 7, pp. 1633–1640, 2012. View at Publisher · View at Google Scholar · View at Scopus
  9. J. K. Rainger, S. Bhatia, H. Bengani et al., “Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence,” Human Molecular Genetics, vol. 23, no. 10, Article ID ddt647, pp. 2569–2579, 2014. View at Publisher · View at Google Scholar · View at Scopus
  10. S. Benko, J. A. Fantes, J. Amiel et al., “Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence,” Nature Genetics, vol. 41, no. 3, pp. 359–364, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. K. Izumi, L. L. Konczal, A. L. Mitchell, and M. C. Jones, “Underlying genetic diagnosis of pierre robin sequence: retrospective chart review at two children’s Hospitals and a systematic literature review,” Journal of Pediatrics, vol. 160, no. 4, pp. 645.e2–650.e2, 2012. View at Publisher · View at Google Scholar · View at Scopus
  12. E. Bhoj, S. Halbach, D. Mcdonald-Mcginn et al., “Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence,” The American Journal of Medical Genetics—Part A, vol. 161, no. 9, pp. 2327–2333, 2013. View at Publisher · View at Google Scholar · View at Scopus
  13. M. Ansari, J. K. Rainger, J. E. Murray et al., “A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX,” European Journal of Human Genetics, vol. 57, no. 10, pp. 587–595, 2014. View at Google Scholar
  14. M. Sun, H. Zhang, G. Li et al., “16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance,” Molecular Cytogenetics, vol. 7, no. 1, article 76, 2014. View at Publisher · View at Google Scholar