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Kayhan G, Ergün MA, Biri AA, et al. A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation. J Turk Ger Gynecol Assoc. 2011;12(3):183-5doi: 10.5152/jtgga.2011.42.
Kayhan, G., Ergün, M. A., Biri, A. A., & Karaoğuz, M. Y. (2011). A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation. Journal of the Turkish German Gynecological Association, 12(3), 183-5. https://doi.org/10.5152/jtgga.2011.42
Kayhan, Gülsüm, et al. "A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation." Journal of the Turkish German Gynecological Association vol. 12,3 (2011): 183-5. doi: https://doi.org/10.5152/jtgga.2011.42
Kayhan G, Ergün MA, Biri AA, Karaoğuz MY. A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation. J Turk Ger Gynecol Assoc. 2011 Sep 01;12(3):183-5. doi: 10.5152/jtgga.2011.42. eCollection 2011. PMID: 24591989; PMCID: PMC3939278.
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J Turk Ger Gynecol Assoc. 2011 Sep 01;12(3):183-5. doi: 10.5152/jtgga.2011.42. eCollection 2011.

A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation.

Journal of the Turkish German Gynecological Association

Gülsüm Kayhan, Mehmet Ali Ergün, Aydan Asyalı Biri, Meral Yirmibeş Karaoğuz

Affiliations

  1. Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey.
  2. Department of Obstetrics and Gynecology, Faculty of Medicine, Gazi University, Ankara, Turkey.

PMID: 24591989 PMCID: PMC3939278 DOI: 10.5152/jtgga.2011.42

Abstract

An additional derivative chromosome 8 was found in the cytogenetic analyses of the chorionic villus biopsy specimen of a balanced reciprocal translocation carrier mother. This was a 3:1 segregation of the unbalanced product of the balanced maternal 8:9 translocation. The chromosomes of the carrier of the balanced reciprocal translocation pair with their matching homologous segments at meiosis I, a quadrivalent figure is formed and chromosomes segregate from this configuration. Increased nuchal tranaslucency was also determined on fetal sonography at the 13(rd) week of gestation. The final karyotype was 47,X Y,+der(8)t(8;9)(q11.2;p22) mat, and the parents were informed about this tertiary trisomy. After genetic counseling, the parents decided to terminate the pregnancy. The presented case is a reminder of the probability of the unbalanced products of the 3:1 segregation, rather than the common 2:2 segregation.

Keywords: 3:1 segregation; Derivative chromosome 8; nuchal translucency; reciprocal translocation; tertiary trisomy

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