De Novo dengeli 18pter delesyonlu olgu sunumu

Abstract

Bu çalışmamızda, Anabilim dalı laboratuvarımıza gönderilen, öyküsünde kötü obstetrik anemnez bulunan aileye yapılan sitogenetik ve moleküler sitogenetik (FISH) analiz sonuçları sunulmuştur. Erkekte normal karyotip (46,XY), fenotip olarak normal gözüken kadında ise 46,XX,der(18;22)(18pter→p11.1::22p11.1→qter)del(18) (:p11.1→qter) kromozom kuruluşu saptanmıştır. Bu translokasyonun orijinini belirlemek amacıyla probandımızın ulaşılan akrabalarından anne ve babasının sitogenetik incelenmesinde her iki ebeveyninde normal olduğu gözlemlenmiş ve olgunun de novo olduğuna karar verilmiştir. Bu taşıyıcı bireylerin öykülerindeki tekrarlayan anomalilerin, gamet oluşumu sırasındaki translokasyonun dengesiz dağılımı sonucu olabileceği düşünülmüş ve sonraki tüm gebeliklerinde prenatal sitogenetik tanı önerilmiştir.

Keywords

• İn situ hibridizasyon, kromozom analizi, kromozom anomalisi

case with deletion of De Novo balanced 18pter

Abstract

In this study, we are presenting the results of cytogenetic analysis and molecular cytogenetic analysis (FISH) of the couple and their family, who were referred to our genetic diagnostic laboratory and had bad obstetrics history. We found a normal karyotype (46,XY) in male, and A de novo complex chromosome rearrangement found in a phenotypically normal female was characterized by G-bands, FISH with probes. Her chromosome structure was 46,XX,der(18;22)(18pter→p11.1::22p11.1→qter) del(18)(:p11.1→qter). To determine the parental origin of translocation, we examined the individuals of the family, and we found that the translocation was de novo. We concluded that this carrier family might be due to the unbalanced distribution of translocation, during gamete formation and prenatal diagnosis recommended for their future pregnancies.

Keywords

• In situ hybridization, chromosome analysis, chromosome abnormality.

References

1. Patriarca A, Piccıoni V, Gigante V. et al. Recurrent sponta- neous abortion.Etiologic factors. Panminerva Med 2000; 42; 105-108.
2. Ward BE, Henry G P. Cytogenetic studies in 100 couples with recurrent spontaneous abortions, Am J Hum Genet 1980; 32: 549-554.
3. de Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon Ch. Dysmorphia complexe avec oligophrenie: deletion des bras courts dun chromosome 17-18. CR Acad Sci Paris 1963; 256: 1028-1029. (Cited in Jones KL. Smith’s Rec- ognizable Patterns of Human Malformation (5th ed). Philadelphia: WB Saunders; 1997: 64-65).
4. Byrne JL, Ward K. Genetic factors in recurrent abortion. Clin Obstet Gynecol, 1994;37; 693-704.
5. Utine E, Alikaşifoğlu M. Klinik Sitogenetiğin Prensipleri. Nussbaum RL, McInnes RR, Willard HF.Thompson and Thompson Tıbbi Genetik 6. Baskı Saunders, Güneş Kita- bevi, 2005:143.
6. Kim YM, Cho EH, Kim JM, Lee MH, Park SY, Ryu HM.Del(18p) syndrome with increased nuchal translu- cency in prenatal diagnosis. Prenat Diagn 2004;24:161- 164.
7. Rigola MA, Plaja A, Mediano C, Miro R, Egozcue J, Fuster C. Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. Am J Med Genet 2001; 15: 104: 37-41.