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Case Reports in Genetics
Volume 2012 (2012), Article ID 490408, 4 pages
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes
1Department of Obstetrics and Gynecology, Santa Clara Valley Medical Center, San Jose, CA 95128, USA
2Department of Pediatrics and Genetics, Santa Clara Valley Medical Center, San Jose, CA 95128, USA
Received 10 July 2012; Accepted 31 July 2012
Academic Editors: P. D. Cotter and C. López Ginés
Copyright © 2012 Matthew J. Garabedian 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.
- K. R. Wotton and S. M. Shimeld, “Analysis of lamprey clustered Fox genes: insight into Fox gene evolution and expression in vertebrates,” Gene, vol. 489, no. 1, pp. 30–40, 2011.
- P. Stankiewicz, P. Sen, S. S. Bhatt et al., “Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations,” American Journal of Human Genetics, vol. 84, no. 6, pp. 780–791, 2009.
- S. Boggs, M. C. Harris, D. J. Hoffman et al., “Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression,” Journal of Pediatrics, vol. 124, no. 1, pp. 125–128, 1994.
- H. B. Vassal, M. Malone, A. J. Petros, and R. M. Winter, “Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia),” Journal of Medical Genetics, vol. 35, no. 1, pp. 58–60, 1998.
- G. D'Amours, Z. Kibar, G. Mathonnet et al., “Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype,” Clinical Genetics, vol. 81, pp. 128–141, 2012.
- H. A. Tanriverdi, A. K. Ertan, H. J. Hendrik, K. Remberger, and W. Schmidt, “Outcome of cystic hygroma in fetuses with normal karyotypes depends on associated findings,” European Journal of Obstetrics Gynecology and Reproductive Biology, vol. 118, no. 1, pp. 40–46, 2005.
- H. A. Tanriverdi, H. J. Hendrik, A. K. Ertan, R. Axt, and W. Schmidt, “Hygroma colli cysticum: prenatal diagnosis and prognosis,” American Journal of Perinatology, vol. 18, no. 8, pp. 415–420, 2001.
- E. S. Howarth, E. S. Draper, J. L. S. Budd, J. C. Konje, M. Clarke, and J. J. Kurinczuk, “Population-based study of the outcome following the prenatal diagnosis of cystic hygroma,” Prenatal Diagnosis, vol. 25, no. 4, pp. 286–291, 2005.
- S. C. Hillman, S. Pretlove, A. Coomarasamy et al., “Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis,” Ultrasound in Obstetrics and Gynecology, vol. 37, no. 1, pp. 6–14, 2011.
- F. Fiorentino, F. Caiazzo, S. Napolitano et al., “Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases,” Prenatal Diagnosis, vol. 31, no. 13, pp. 1270–1282, 2011.
- “ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis,” Obstetrics & Gynecology, vol. 114, pp. 1161–1163, 2009.
- M. Manning and L. Hudgins, “Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities,” Genetics in Medicine, vol. 12, no. 11, pp. 742–745, 2010.
- D. T. Miller, M. P. Adam, S. Aradhya et al., “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies,” American Journal of Human Genetics, vol. 86, no. 5, pp. 749–764, 2010.
- K. D. Lichtenbelt, N. V. A. M. Knoers, and G. H. Schuring-Blom, “From karyotyping to array-CGH in prenatal diagnosis,” Cytogenetic and Genome Research, vol. 135, no. 3-4, pp. 241–250, 2011.
- L. G. Shaffer, B. A. Bejjani, B. Torchia, S. Kirkpatrick, J. Coppinger, and B. C. Ballif, “The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future,” American Journal of Medical Genetics, Part C, vol. 145, no. 4, pp. 335–345, 2007.