Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2013, Article ID 978087, 6 pages
http://dx.doi.org/10.1155/2013/978087
Case Report

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

1Department of Pediatrics, IRCCS Policlinico San Matteo, University of Pavia, Piazzale Golgi 19, 27100 Pavia, Italy
2Department of Molecular Medicine, University of Pavia, Via Forlanini 6, 27100 Pavia, Italy
3IRCCS C. Mondino National Neurological Institute Foundation, Via Mondino 2, 27100 Pavia, Italy

Received 6 June 2013; Accepted 11 July 2013

Academic Editors: D. J. Bunyan, C.-W. Cheng, P. Morrison, and M. Velinov

Copyright © 2013 Mariangela Cisternino 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. A. Rogol and R. M. Blizzard, “Variations and disorders of pubertal development,” in Wilkins' the Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence, M. S. Kappy, R. M. Blizzard, and C. J. Migeon, Eds., pp. 857–917, Charles Thomas, Springfield, Ill, USA, 1994. View at Google Scholar
  2. M. Cisternino, T. Arrigo, A. M. Pasquino et al., “Etiology and age incidence of precocious puberty in girls: a multicentric study,” Journal of Pediatric Endocrinology and Metabolism, vol. 13, supplement 1, pp. 695–701, 2000. View at Google Scholar · View at Scopus
  3. M. Chalumeau, C. G. Hadjiathanasiou, S. M. Ng et al., “Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule,” Journal of Pediatrics, vol. 143, no. 4, pp. 445–450, 2003. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Brauner, L. Adan, F. Malandry, and D. Zantleifer, “Adult height in girls with idiopathic true precocious puberty,” Journal of Clinical Endocrinology and Metabolism, vol. 79, no. 2, pp. 415–420, 1994. View at Publisher · View at Google Scholar · View at Scopus
  5. G. B. Kletter and R. P. Kelch, “Clinical review 60: Effects of gonadotropin-releasing hormone analog therapy on adult stature in precocious puberty,” Journal of Clinical Endocrinology and Metabolism, vol. 79, no. 2, pp. 331–334, 1994. View at Publisher · View at Google Scholar · View at Scopus
  6. O. Alfi, G. N. Donnell, and B. F. Crandall, “Deletion of the short arm of chromosome # 9 (46,9p-). A new deletion syndrome,” Annales de Genetique, vol. 16, no. 1, pp. 17–22, 1973. View at Google Scholar · View at Scopus
  7. R. Onesimo, D. Orteschi, M. Scalzone et al., “Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions,” American Journal of Medical Genetics A, vol. 158, no. 9, pp. 2266–2271, 2012. View at Google Scholar
  8. M. E. M. Swinkels, A. Simons, D. F. Smeets et al., “Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: delineation of the critical region for a consensus phenotype,” American Journal of Medical Genetics A, vol. 146, no. 11, pp. 1430–1438, 2008. View at Publisher · View at Google Scholar · View at Scopus
  9. S. J. Funderburk, R. S. Sparkes, and I. Klisak, “The 9p- syndrome,” Journal of Medical Genetics, vol. 16, no. 1, pp. 75–79, 1979. View at Google Scholar · View at Scopus
  10. G. Eshel, E. Lahat, O. Reish, and J. Barr, “Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p,” Journal of Child Neurology, vol. 17, no. 1, pp. 50–51, 2002. View at Google Scholar · View at Scopus
  11. OMIM, “Online Mendelian Inheritance in Man,” http://www.omim.org/clinicalSynopsis/158170.
  12. W. A. Marshall and J. M. Tanner, “Variations in pattern of pubertal changes in girls,” Archives of Disease in Childhood, vol. 44, no. 235, pp. 291–303, 1969. View at Google Scholar · View at Scopus
  13. W. W. Greulich and S. I. Pyle, Radiographic Atlas of Skeletal Development of the Hand and Wrist, Stanford University Press, Stanford, Calif, USA, 2nd edition, 1959.
  14. N. Resta, R. Giorda, R. Bagnulo et al., “Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects,” Human Genetics, vol. 128, no. 4, pp. 373–382, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. J. L. Huret, C. Leonard, B. Forestier, M. O. Rethore, and J. Lejeune, “Eleven new cases of del(9p) and features from 80 cases,” Journal of Medical Genetics, vol. 25, no. 11, pp. 741–749, 1988. View at Google Scholar · View at Scopus
  16. D. W. Bianchi, “Chromosome 9, partial monosomy 9p,” in Birth Defects Encyclopedia, M. L. Buyse, Ed., pp. 353–354, Blackwell Scientific, Malden, Mass, USA, 1990. View at Google Scholar
  17. K. Sørensen, L. Aksglaede, J. H. Petersen, A. M. Andersson, and A. Juul, “Serum IGF1 and insulin levels in girls with normal and precocious puberty,” European Journal of Endocrinology, vol. 166, no. 5, pp. 903–910, 2012. View at Google Scholar
  18. M. Cisternino, A. Borghesi, L. Bacchella et al., “Increased insulin response to intravenous glucose tolerance test in girls with central precocious puberty,” Hormone Research, vol. 58, no. S2, p. 300, 2002. View at Google Scholar
  19. A. D. Krentz, M. W. Murphy, A. L. Sarver, M. D. Griswold, V. J. Bardwell, and D. Zarkower, “DMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovary,” Developmental Biology, vol. 356, no. 1, pp. 63–70, 2011. View at Publisher · View at Google Scholar · View at Scopus
  20. C. Garcia-Rudaz, F. Luna, V. Tapia et al., “Fxna, a novel gene differentially expressed in the rat ovary at the time of folliculogenesis, is required for normal ovarian histogenesis,” Development, vol. 134, no. 5, pp. 945–957, 2007. View at Publisher · View at Google Scholar · View at Scopus
  21. L. Mutesa, A. C. Hellin, M. Jamar, G. Pierquin, V. Bours, and A. Verloes, “Precocious puberty associated with partial trisomy 18q and monosomy 11q,” Genetic Counseling, vol. 18, no. 2, pp. 201–207, 2007. View at Google Scholar · View at Scopus
  22. K. Buiting, D. Kanber, J. I. Martín-Subero et al., “Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster,” Human Mutation, vol. 29, no. 9, pp. 1141–1146, 2008. View at Publisher · View at Google Scholar · View at Scopus
  23. H. Lybæk, K. H. Ørstavik, T. Prescott et al., “An 8.9Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion,” European Journal of Human Genetics, vol. 17, no. 7, pp. 904–910, 2009. View at Publisher · View at Google Scholar · View at Scopus
  24. T. Kosho, S. Sakazume, H. Kawame et al., “De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment,” Clinical Dysmorphology, vol. 17, no. 1, pp. 31–34, 2008. View at Publisher · View at Google Scholar · View at Scopus