Abstract

Introduction: Chromosomal Heteromorphisms are the inherited variations at specific chromosomal regions without a proven impact on the phenotype of an individual. Material and Methods: We studied and compared the chromosome Heteromorphisms in the Karyotypes of two groups. The first group consisted of 320 individuals of 160 couples with more than two miscarriages and no live birth and the second group consisted of 412 individuals of 206 normal couples with more than 1 normal child birth. Results and discussion: Twenty Nine individuals (9.06%) with a history of recurrent pregnancy loss were found to have chromosomal heteromorphisms, whereas thirteen individuals (3.1%) from the normal group were having the chromosomal heteromorphism. The difference between the two groups was statistically significant (p<0.0001) Conclusion: These results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphism and recurrent pregnancy loss.

Highlights

  • Chromosomal Heteromorphisms are the inherited variations at specific chromosomal regions without a proven impact on the phenotype of an individual

  • These results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphism and recurrent pregnancy loss

  • Common chromosomal polymorphisms detected by Giemsa banding are considered as heteromorphisms and include heterochromatin regions on short arms of Acrocentric chromosomes and regions of chromosomes 1, 9, 16 and Y

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Summary

Introduction

Chromosomal Heteromorphisms are the inherited variations at specific chromosomal regions without a proven impact on the phenotype of an individual. Chromosomal heteromorphisms are structural chromosomal variants that are widespread in human populations and have no known effect on phenotype [2]. These heteromorphic regions may be identified by several methods; each of these methods reveals a typical staining pattern implying constitutional differences in heterochromatin. Impact of chromosome heteromorphism has been studied previously on infertility and recurrent miscarriages [1,3]. There seems an increased incidence of chromosome heteromorphism in infertility and recurrent miscarriages; the underlined mechanism needs to be clearly defined yet

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