A Retrospective Study of Balanced Chromosomal Translocations in a Turkish Population

Karakus N., Kara N., Tural Ş., Kocak I., Elbistan M.

INTERNATIONAL JOURNAL OF HUMAN GENETICS, vol.12, no.4, pp.319-323, 2012 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.1080/09723757.2012.11886186
  • Journal Name: INTERNATIONAL JOURNAL OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.319-323
  • Keywords: Balanced Translocation, Karyotyping, Phenotypic Features, Chromosomal Rearrangements, Cytogenetic Analyses, Recurrent Miscarriage, RECIPROCAL TRANSLOCATION, DE-NOVO, REARRANGEMENTS, COUPLES
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

The balanced translocations are accepted as chromosomal rearrangements that do not generally reflect any phenotypic evidence. However, phenotypical influences can be seen in children of balanced translocation carriers due to the formation of partial monosomy and partial trisomy of any related chromosome. In this study, 25 cases that detected to have balanced translocation by cytogenetic analyses were evaluated with regard to their phenotypic features. Karyotype analyses-of cases were taken out by using conventional peripheral-blood culture method. It is estimated that 14 (56%) of these balanced translocation carriers had recurrent miscarriage, 5 (20%) had children with mental retardation, 3 (16%) had infertility, 2(8%) had amenorrhea and 1(4%) had mental retardation. When the cases were examined, it is understood that the increase in the frequency of miscarriage is the most frequent phenotypic feature in balanced translocation carriers as a result of the formation of unbalanced gametes.