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Arch Iran Med. 2012;15(4): 0.
PMID: 22424046
Scopus ID: 84862257529
  Abstract View: 5801
  PDF Download: 1442

Case Report

Two Novel Familial Balanced Translocations t(8;11)(p23;q21) and t(6;16)(q26;p12) Implicated in Recurrent Spontaneous Abortion

Fatemeh Keify, Narges Zhiyan, Farzaneh Mirzaei, Semiramis Tootian, Saeedeh Ghazaey, Mohammad R Abbaszadegan*
*Corresponding Author: Email: abbaszadeganmr@mums.ac.ir

Abstract

Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separatenon-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis.

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ePublished: 01 Apr 2012
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