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PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS

Year 2003, Volume: 16 Issue: 1, 41 - 44, 03.12.2016

Rıza Madazlı Burak Erzik Begüm Körbeyli Seyfettin Uludağ Vildan Ocak

Abstract

We present a fetus with multiple ultrasonographic abnormalities in which prenatal diagnosis revealed trisomy 9 mosaicism in the fetal blood and complete trisomy 9 in the amniotic fluid and chorionic villi. Ultrasonographic abnormalities included micrognathia, overlapping fingers, horseshoe kidneys located at pelvis showing mild pelvicalyectasia, hypoplastic left ventricle with an echogenic foci, ventricular septal defect, pulmonary artery stenosis, diffuse perihepatic calcifications and single umbilical artery.
Key Words: Trisomy 9 Mosaicism, Prenatal diagnosis, Ultrasonography

References

  • Saneto RP, Applegate RE, Frankel DG. Atypical manifestations of two cases of trisomy 9 syndrome: Rethinking development delay. Am J Med Genet 1998; 80: 42-45.
  • Merino A, De Perdigo A, Hombalais F, Yvinec M, Le Roux MG, Bellec V. Prenatal diagnosis of trisomy 9 mosaicism: Two new cases. Prenat Diagn 1993; 13: 1001- 1007.
  • Van Der Berg C, Ramlakhan SR, Van Opstal D, Branderburg FI, Halley DJJ, Los FJ. Prenatal
  • diagnosis of trisomy 9: Cytogenetic, FISH, and DIT A studies. Prenat Diagn 1997; 17: 933- 940.
  • Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat Diagn 2000; 20:930-932.
  • Appelman Z, Rosensaft J, Chemke J, Caspi B, Ashkenazi M, Mogilner MB. Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up. Am J Med Genet 1991; 40: 461-466.
  • Pfeiffer RA, Ulmer R, Rniewald A, Wagner- Thiessen E. Prenatal diagnosis trisomy 9 mosaicism possibly limited to fetal membranes. Prenat Diagn 1984; 4:387-389.
  • Sherer DM, Wang IT, Thompson HO, et al. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis. Prenat Diagn 1992; 12: 31-37.
  • Chitty LS, Altman DG. Appendix: Charts of
  • fetal measurements. In: Rodeck CH, Whittle MJ, eds. Fetal Medicine, Basic Science and Clinical Practice. London: Churchill
  • Livingstone, 1999; 1095-1140.
  • Cantu FS, Eicher DJ, Pai S, Donahue CJ, Harley RA. Mosaic vs Honmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet 1996; 62:330-335.
  • Schwartz S, Ash ai S, Meijboom EJ, Schwartz MF, Sun CCJ, Cohen, MM. Prenatal detection of trisomy 9 mosaicism. Prenat Diagn 1989; 9: 549-554.
  • Bronshtein M, Blazer S. Prenatal diagnosis of liver calcifications. Obstet Gynecol 1995; 86: 739-743.
  • Jay A, Rilby MD, Roberts E, et al. Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology. Prenat Diagn 1999; 19: 976-979.

Year 2003, Volume: 16 Issue: 1, 41 - 44, 03.12.2016

Rıza Madazlı Burak Erzik Begüm Körbeyli Seyfettin Uludağ Vildan Ocak

Abstract

References

  • Saneto RP, Applegate RE, Frankel DG. Atypical manifestations of two cases of trisomy 9 syndrome: Rethinking development delay. Am J Med Genet 1998; 80: 42-45.
  • Merino A, De Perdigo A, Hombalais F, Yvinec M, Le Roux MG, Bellec V. Prenatal diagnosis of trisomy 9 mosaicism: Two new cases. Prenat Diagn 1993; 13: 1001- 1007.
  • Van Der Berg C, Ramlakhan SR, Van Opstal D, Branderburg FI, Halley DJJ, Los FJ. Prenatal
  • diagnosis of trisomy 9: Cytogenetic, FISH, and DIT A studies. Prenat Diagn 1997; 17: 933- 940.
  • Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat Diagn 2000; 20:930-932.
  • Appelman Z, Rosensaft J, Chemke J, Caspi B, Ashkenazi M, Mogilner MB. Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up. Am J Med Genet 1991; 40: 461-466.
  • Pfeiffer RA, Ulmer R, Rniewald A, Wagner- Thiessen E. Prenatal diagnosis trisomy 9 mosaicism possibly limited to fetal membranes. Prenat Diagn 1984; 4:387-389.
  • Sherer DM, Wang IT, Thompson HO, et al. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis. Prenat Diagn 1992; 12: 31-37.
  • Chitty LS, Altman DG. Appendix: Charts of
  • fetal measurements. In: Rodeck CH, Whittle MJ, eds. Fetal Medicine, Basic Science and Clinical Practice. London: Churchill
  • Livingstone, 1999; 1095-1140.
  • Cantu FS, Eicher DJ, Pai S, Donahue CJ, Harley RA. Mosaic vs Honmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet 1996; 62:330-335.
  • Schwartz S, Ash ai S, Meijboom EJ, Schwartz MF, Sun CCJ, Cohen, MM. Prenatal detection of trisomy 9 mosaicism. Prenat Diagn 1989; 9: 549-554.
  • Bronshtein M, Blazer S. Prenatal diagnosis of liver calcifications. Obstet Gynecol 1995; 86: 739-743.
  • Jay A, Rilby MD, Roberts E, et al. Prenatal diagnosis of mosaicism for partial trisomy 8: a case report including fetal pathology. Prenat Diagn 1999; 19: 976-979.
There are 15 citations in total.

Details

Journal Section Case Reports
Authors

Rıza Madazlı This is me

Burak Erzik This is me

Begüm Körbeyli This is me

Seyfettin Uludağ This is me

Vildan Ocak This is me

Publication Date December 3, 2016
Published in Issue Year 2003 Volume: 16 Issue: 1

Cite

APA Madazlı, R., Erzik, B., Körbeyli, B., Uludağ, S., et al. (2016). PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS. Marmara Medical Journal, 16(1), 41-44.
AMA Madazlı R, Erzik B, Körbeyli B, Uludağ S, Ocak V. PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS. Marmara Med J. March 2016;16(1):41-44.
Chicago Madazlı, Rıza, Burak Erzik, Begüm Körbeyli, Seyfettin Uludağ, and Vildan Ocak. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal 16, no. 1 (March 2016): 41-44.
EndNote Madazlı R, Erzik B, Körbeyli B, Uludağ S, Ocak V (March 1, 2016) PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS. Marmara Medical Journal 16 1 41–44.
IEEE R. Madazlı, B. Erzik, B. Körbeyli, S. Uludağ, and V. Ocak, “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”, Marmara Med J, vol. 16, no. 1, pp. 41–44, 2016.
ISNAD Madazlı, Rıza et al. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal 16/1 (March 2016), 41-44.
JAMA Madazlı R, Erzik B, Körbeyli B, Uludağ S, Ocak V. PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS. Marmara Med J. 2016;16:41–44.
MLA Madazlı, Rıza et al. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal, vol. 16, no. 1, 2016, pp. 41-44.
Vancouver Madazlı R, Erzik B, Körbeyli B, Uludağ S, Ocak V. PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS. Marmara Med J. 2016;16(1):41-4.