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

Yıl 2003, Cilt: 16 Sayı: 1, 41 - 44, 03.12.2016

Rıza Madazlı Burak Erzik Begüm Körbeyli Seyfettin Uludağ Vildan Ocak

Öz

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

Kaynakça

  • 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.

Yıl 2003, Cilt: 16 Sayı: 1, 41 - 44, 03.12.2016

Rıza Madazlı Burak Erzik Begüm Körbeyli Seyfettin Uludağ Vildan Ocak

Öz

Kaynakça

  • 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.
Toplam 15 adet kaynakça vardır.

Ayrıntılar

Bölüm Case Reports
Yazarlar

Rıza Madazlı Bu kişi benim

Burak Erzik Bu kişi benim

Begüm Körbeyli Bu kişi benim

Seyfettin Uludağ Bu kişi benim

Vildan Ocak Bu kişi benim

Yayımlanma Tarihi 3 Aralık 2016
Yayımlandığı Sayı Yıl 2003 Cilt: 16 Sayı: 1

Kaynak Göster

APA Madazlı, R., Erzik, B., Körbeyli, B., Uludağ, S., vd. (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. Mart 2016;16(1):41-44.
Chicago Madazlı, Rıza, Burak Erzik, Begüm Körbeyli, Seyfettin Uludağ, ve Vildan Ocak. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal 16, sy. 1 (Mart 2016): 41-44.
EndNote Madazlı R, Erzik B, Körbeyli B, Uludağ S, Ocak V (01 Mart 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, ve V. Ocak, “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”, Marmara Med J, c. 16, sy. 1, ss. 41–44, 2016.
ISNAD Madazlı, Rıza vd. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal 16/1 (Mart 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 vd. “PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS”. Marmara Medical Journal, c. 16, sy. 1, 2016, ss. 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.