The Indian Journal of Pediatrics

, Volume 76, Issue 7, pp 745–746

Clinical manifestations in trisomy 9

  • T. P. Kannan
  • S. Hemlatha
  • R. Ankathil
  • B. A. Zilfalil
Clinical Brief

Abstract

Complete trisomy 9 is a lethal diagnosis and most fetuses diagnosed thus die prenatally or during the early postnatal period and majority of such cases have been known to end in spontaneous abortion in the first trimester itself. One such rare survival of fetus ending in normal delivery and surviving until 20 days is reported here detailing the clinical manifestations of the child during the period of survival. The salient clinical features observed were small face, wide fontanel, prominent occiput, micrognathia, low set ears, upslanting palpebral fissures, high arched palate, short sternum, overlapping fingers, limited hip abduction, rocker bottom feet, heart murmurs and also webbed neck, characteristic of this trisomy 9 syndrome.

Key words

Clinical manifestations Infant Trisomy 9 

References

  1. 1.
    Yeo L, Waldron R, Lashley S, Day-Salvatore D, Vintzileos AM. Prenatal Sonographic Findings Associated With Nonmosaic Trisomy 9 and Literature Review. J Ultrasound Med 2003; 22: 425–430.PubMedGoogle Scholar
  2. 2.
    Nakagawa M, Hashimoto K, Ohira H, Hamanaka T, Ozaki M, Suehara N. Prenatal Diagnosis of Trisomy 9. Fetal Diagn Therap 2006; 21: 68–71.CrossRefGoogle Scholar
  3. 3.
    Feingold M, Atkins L. A case of trisomy 9. J Med Genet 1973; 10: 184–187.PubMedCrossRefGoogle Scholar
  4. 4.
    Pinette MG, Pan Y, Chard R, Pinette SG, Blackstone J. Prenatal diagnosis of nonmosaic trisomy 9 and related ultrasound findings at 11.7 weeks. J Matern Fetal Med 1988; 7: 48–50.CrossRefGoogle Scholar
  5. 5.
    Sandoval R, Sepulveda W, Gutierrez J, Be C, Altieri E. Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease. Gynecol Obstet Invest 1999; 48: 69–72.PubMedCrossRefGoogle Scholar
  6. 6.
    Katayama KP, Wilkinson EJ, Herrmann J et al. Clinical delineation of trisomy 9 syndrome. Obstet Gynecol 1980; 56: 665–668.PubMedGoogle Scholar
  7. 7.
    Kurnick J, Atkins L, Feingold M, Hills J, Dvorak A. Trisomy 9: Predominance of cardiovascular, liver, brain, and skeletal anomalies in the first diagnosed case. Hum Pathol 1974; 5: 223–232.PubMedCrossRefGoogle Scholar
  8. 8.
    Cantú ES, Eicher DJ, Pai GS, Donahue CJ, Harley RA. Mosaic vs nonmosaic trisomy 9: Report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet 1998; 62: 330–335.CrossRefGoogle Scholar
  9. 9.
    McDuffie RS. Complete trisomy 9: case report with ultrasound findings. Am J Perinatol 1994; 11: 80–84.PubMedCrossRefGoogle Scholar
  10. 10.
    Stipoljev F, Kos M, Kos M et al. Antenatal detection of mosaic trisomy 9 by ultrasound: a case report and literature review. J Matern Fetal Neonatal Med 2003; 14: 65–69.PubMedCrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2009

Authors and Affiliations

  • T. P. Kannan
    • 1
    • 3
  • S. Hemlatha
    • 2
  • R. Ankathil
    • 1
  • B. A. Zilfalil
    • 1
  1. 1.Human Genome CentreUniversiti Sains MalaysiaKubang KerianMalaysia
  2. 2.Hospital Raja Perempuan Zainab IIKota BharuMalaysia
  3. 3.Human Genome CentreUniversiti Sains MalaysiaKubang KerianMalaysia

Personalised recommendations