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A case with deletion 13q syndrome that born from mother with high risk at 2.trimestr screening test

Year 2010, Volume: 41 Issue: 3, 153 - 156, 01.04.2010

BENİK Dilek Şilfeler Burcu Artunç İbrahim Şilfeler

Abstract

Objective: Chromosome disorders, occurs depending on numerical or structural abnormalities of chromosomes. 13q deletion syndrome is a chromosomal disorder characterized by congenital malformations and mental retardation. At the same time is also known as monosomy 13q syndrome. Triple test is a screening test that recommended to determine chromosomal disorders, some above-average risk for pregnant women at 15-20 weeks of gestation. We report this case because of it is rarely seen. Case: In this article, we report a case with deletion 13q syndrome that arise from mother with high risk at 2. trimester screening test. Result: 2. trimester screening tests, and over 2.5 MoM P-hCG levels may be stimulating for rare chromosomal anomalies is argued by some researchers. Similar cases that not have structural anomalies at ultrasound could be overlooked easily.

Keywords

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References

  • 1. Erdemoglu M, Kale A. Genetik amaçlı amniosentez uygulanan 183 olgunun prospektif analizi. Dicle Tıp dergisi. 2007:34(3):170-5 2. Tunçbilek E, Utine E. Toplumda genetik hastalıklar ve prenatal tanı;In:Kişnişçi H., Temel Kadın Hastalıkları ve Doğum Bilgisi; Güneş Kitabevi, 2008:695-699
  • 3. Hall J. Chromosomal clinical abnormalities. In: Behrman RE, Nelson Textbook of Pediatrics, 17th edition.Saunders, 2004:382-391
  • 4. Buad O, Cormier-Daire V.LyonnetS, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 1999;55:478-482 5. P.A. Benn, Clinica Chimica Acta 2002:323:1-16 6. Madazlı R. Plasenta proteinleri ve klinik kullanım; Plasenta; Nobel Tıp Kitabevi, 2008:159-169 7. Roberts L, Sebire NJ, Fowler D, ve ark. Histomorphological features of chorionic villi at 10-14 weeks in gestation in trisomic and chromosomally normal pregnancies. Placenta; 2000; 21:678-683
  • 8. Rozovski U, Grosmann AJ, Bar-Shira A ve ark. Genome wide expression analysis of cultured trophoblast with trisomy 21 karyotype. Hum Reprod; 2007; 22:2538-2545
  • 9. Reynolds T. The triple test as a screening technique for down syndrome: reliability and relevance. înt J Womens health. 2010:2:83-8 10. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 1987; 7:623 - 30
  • 11. Parrot AM, Sriram G, Liu Y, Mathews MB. Expression of Type II Chorionic Gonadotropin Genes Supports a Role in the Male Reproductive System. 2011 Jan;31(2):287-99 12. Ozturk M, Bellet D, Manil L, Hennen G, Frydman R, Wands J. Physiological studies on human chorionic gonadotropin (hCG), ahCG, and hhCG as measured by specific monoclonal immunoradiometric assays. Endocrinology 1987;120: 549-58
  • 13. Benn PA, Gainey A, Ingardia CJ, Rodis JF, Egan JFX. Second trimester maternal serum analytes in triploidpregnancies: correlation with phenotype and sex chromosome complement. Prenat Diagn 2001;21:680-6
  • 14. Sailer DN, Canick JA, Schwartz S, Blitzner MG. Multiplemarker screening in pregnancies with hydropic and non-hydropic Turner syndrome. Am JObstet Gynecol 1992;67: 1021-4
  • 15. Sailer DN, Canick JA, Oyer CE. The detection of non-immune hydrops through second-trimester maternal serum screening. Prenat Diagn 1996,16:431- 5
  • 16. Chard T. Biochemistry and endocrinology of the Down's syndrome pregnancy. Ann NY Acad Sci 1991;626:580- 96
  • 17. Cicero at al. Sonographic Markers of Fetal Aneuploidy-A Review. Placenta, 2003; 24:88-98
  • 18. Quelin C, Bendavid C, Duborg C at al. Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress. EJMG; 2009:52(l):41-6

2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu

Year 2010, Volume: 41 Issue: 3, 153 - 156, 01.04.2010

BENİK Dilek Şilfeler Burcu Artunç İbrahim Şilfeler

Abstract

Giriş ve Amaç: Kromozom hastalıkları, kromozomların sayısal yada yapısal anomalilerine bağlı olarak ortaya çıkar. 13q delesyon sendromu konjenital malformasyonlar ve zeka geriliği ile karakterize bir kromozomal bozukluktur. Aynı zamanda monozomi 13q sendromu olarak da bilinir. Üçlü test, gebeliğin 15-20 haftaları arasında bazı kromozomal hastalıklar için ortalamanın üzerinde risk taşıyan gebeleri saptamak amacıyla önerilen bir tarama testidir. Nadir bir olgu olması nedeniyle bu vakayı sunmaya değer bulduk. Olgu: Bu yazıda 2. Trimester testi yüksek riskli olarak bulunan bir anneden doğan 13q delesyonlu bir olgu sunulmuştur. Sonuç: 2. trimester tarama testleri ve >2.5 MoM değerinde P-HCG değerleri toplumda ender olarak görülen kromozomal anomaliler için de uyarıcı olabileceği bazı araştırıcılar tarafından savunulmaktadır. Ultrasonografikyapısal anomalisi olmayan benzer olgular rahatlıkla gözden kaçabilmektedir.

Keywords

-

References

  • 1. Erdemoglu M, Kale A. Genetik amaçlı amniosentez uygulanan 183 olgunun prospektif analizi. Dicle Tıp dergisi. 2007:34(3):170-5 2. Tunçbilek E, Utine E. Toplumda genetik hastalıklar ve prenatal tanı;In:Kişnişçi H., Temel Kadın Hastalıkları ve Doğum Bilgisi; Güneş Kitabevi, 2008:695-699
  • 3. Hall J. Chromosomal clinical abnormalities. In: Behrman RE, Nelson Textbook of Pediatrics, 17th edition.Saunders, 2004:382-391
  • 4. Buad O, Cormier-Daire V.LyonnetS, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 1999;55:478-482 5. P.A. Benn, Clinica Chimica Acta 2002:323:1-16 6. Madazlı R. Plasenta proteinleri ve klinik kullanım; Plasenta; Nobel Tıp Kitabevi, 2008:159-169 7. Roberts L, Sebire NJ, Fowler D, ve ark. Histomorphological features of chorionic villi at 10-14 weeks in gestation in trisomic and chromosomally normal pregnancies. Placenta; 2000; 21:678-683
  • 8. Rozovski U, Grosmann AJ, Bar-Shira A ve ark. Genome wide expression analysis of cultured trophoblast with trisomy 21 karyotype. Hum Reprod; 2007; 22:2538-2545
  • 9. Reynolds T. The triple test as a screening technique for down syndrome: reliability and relevance. înt J Womens health. 2010:2:83-8 10. Bogart MH, Pandian MR, Jones OW. Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat Diagn 1987; 7:623 - 30
  • 11. Parrot AM, Sriram G, Liu Y, Mathews MB. Expression of Type II Chorionic Gonadotropin Genes Supports a Role in the Male Reproductive System. 2011 Jan;31(2):287-99 12. Ozturk M, Bellet D, Manil L, Hennen G, Frydman R, Wands J. Physiological studies on human chorionic gonadotropin (hCG), ahCG, and hhCG as measured by specific monoclonal immunoradiometric assays. Endocrinology 1987;120: 549-58
  • 13. Benn PA, Gainey A, Ingardia CJ, Rodis JF, Egan JFX. Second trimester maternal serum analytes in triploidpregnancies: correlation with phenotype and sex chromosome complement. Prenat Diagn 2001;21:680-6
  • 14. Sailer DN, Canick JA, Schwartz S, Blitzner MG. Multiplemarker screening in pregnancies with hydropic and non-hydropic Turner syndrome. Am JObstet Gynecol 1992;67: 1021-4
  • 15. Sailer DN, Canick JA, Oyer CE. The detection of non-immune hydrops through second-trimester maternal serum screening. Prenat Diagn 1996,16:431- 5
  • 16. Chard T. Biochemistry and endocrinology of the Down's syndrome pregnancy. Ann NY Acad Sci 1991;626:580- 96
  • 17. Cicero at al. Sonographic Markers of Fetal Aneuploidy-A Review. Placenta, 2003; 24:88-98
  • 18. Quelin C, Bendavid C, Duborg C at al. Twelve new patients with 13q deletion syndrome: Genotype-phenotype analyses in progress. EJMG; 2009:52(l):41-6
There are 12 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

BENİK Dilek Şilfeler This is me

Burcu Artunç This is me

İbrahim Şilfeler This is me

Publication Date April 1, 2010
Published in Issue Year 2010 Volume: 41 Issue: 3

Cite

APA Şilfeler, B. D., Artunç, B., & Şilfeler, İ. (2010). 2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu. Zeynep Kamil Tıp Bülteni, 41(3), 153-156. https://doi.org/10.16948/zktb.93796
AMA Şilfeler BD, Artunç B, Şilfeler İ. 2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu. Zeynep Kamil Tıp Bülteni. April 2010;41(3):153-156. doi:10.16948/zktb.93796
Chicago Şilfeler, BENİK Dilek, Burcu Artunç, and İbrahim Şilfeler. “2.trimestr Tarama Testi yüksek Riskli çıkan Bir Anneden doğan Delesyon 13q Sendromlu Bir Olgu”. Zeynep Kamil Tıp Bülteni 41, no. 3 (April 2010): 153-56. https://doi.org/10.16948/zktb.93796.
EndNote Şilfeler BD, Artunç B, Şilfeler İ (April 1, 2010) 2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu. Zeynep Kamil Tıp Bülteni 41 3 153–156.
IEEE B. D. Şilfeler, B. Artunç, and İ. Şilfeler, “2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu”, Zeynep Kamil Tıp Bülteni, vol. 41, no. 3, pp. 153–156, 2010, doi: 10.16948/zktb.93796.
ISNAD Şilfeler, BENİK Dilek et al. “2.trimestr Tarama Testi yüksek Riskli çıkan Bir Anneden doğan Delesyon 13q Sendromlu Bir Olgu”. Zeynep Kamil Tıp Bülteni 41/3 (April 2010), 153-156. https://doi.org/10.16948/zktb.93796.
JAMA Şilfeler BD, Artunç B, Şilfeler İ. 2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu. Zeynep Kamil Tıp Bülteni. 2010;41:153–156.
MLA Şilfeler, BENİK Dilek et al. “2.trimestr Tarama Testi yüksek Riskli çıkan Bir Anneden doğan Delesyon 13q Sendromlu Bir Olgu”. Zeynep Kamil Tıp Bülteni, vol. 41, no. 3, 2010, pp. 153-6, doi:10.16948/zktb.93796.
Vancouver Şilfeler BD, Artunç B, Şilfeler İ. 2.trimestr tarama testi yüksek riskli çıkan bir anneden doğan delesyon 13q sendromlu bir olgu. Zeynep Kamil Tıp Bülteni. 2010;41(3):153-6.