What happens exactly in chromosome translocations?

Written by: Mr Mahantesh Karoshi
Published: | Updated: 13/04/2023
Edited by: Conor Lynch

We recently spoke to esteemed fertility specialist and consultant gynaecologist, Mr Mahantesh Karoshi, to find out about chromosomes, including where they typically come from and what occurs in chromosome translocations. He reveals whether or not the risk of miscarriage is increased when either a mother or father has a balanced chromosome translocation.

Where do chromosomes come from?

Normally, one half of chromosomes come from the mother and the other half from the father. Pieces of the chromosome pairs split so that the baby receives genetic material from each parent.


What happens exactly in chromosome translocations?

In chromosome translocations, some sections of chromosomes change their geographical position without any loss or gain of importance. In translocation, there is no loss of genetic material, as the chromosomes sections are simply joined at the wrong position. When the number of chromosomes is correct, but a portion of one of the chromosomes has attached incorrectly, it is referred to as a balanced translocation.


Roughly how many people suffer from balanced translocation?

Roughly one in 500 people in the general population suffer from this. Most individuals with balanced translocation suffer no ill effects and are often undiagnosed until they experience fertility issues. Ruling out the possibility of translocation will assist to understand the risk of recurrence.


Is the risk of miscarriage higher when a parent has a balanced chromosome translocation?

When one member of a couple carries a balanced chromosome translocation, the risk of having a miscarriage is approximately doubled. In three to five per cent of couples with recurrent miscarriage, one partner has a balanced translocation.


Family history of miscarriages, such as patient’s mother or her sister having had the same problem, should also be taken into consideration. When a balanced translocation is identified and if the affected woman miscarries, it is useful to karyotype the miscarried pregnancy tissue to see if it was the result of translocation.


When either the male or female partner has a balanced translocation, the risk of miscarriage increases to 20 per cent, sometimes 30 per cent, or even 50 per cent.


What are the different fertility options for a woman with balanced translocation?

There are, thankfully, many fertility options for a woman with balanced translocation. The main ones include the following:


  • IVF-PGD (preimplantation genetic diagnosis) – improves the chances for a success pregnancy and live birth and maintains a genetic link to parents.
  • Gamete or embryo donation – eliminates risks associated with balanced translocation but treatment costs are higher, and there is no genetic link to both parents.


Mr Mahantesh Karoshi is a highly experienced London-based consultant gynaecologist who specialises in infertility issues in women. Consult with him today via his Top Doctors profile.

By Mr Mahantesh Karoshi
Obstetrics & gynaecology

Mr Mahantesh Karoshi is a London-based women’s health expert and consultant gynaecologist, with a special interest in ovarian cysts, heavy menstrual bleeding, infertility, fibroids, and adenomyosis. He is currently one of the most highly-rated gynaecologists in London with a very good reputation amongst his patients and peers.

Mr Karoshi's work is recognised internationally, having volunteered in Ethiopia’s Gimbie Hospital, and later receiving the Bernhard Baron Travelling Fellowship from the Royal College of Obstetricians and Gynaecologists which led to his work in the University of Buenos Aires. Here he worked on the techniques needed to surgically manage morbidly adherent placental disorders - a serious condition that can occur in women with multiple caesarean sections.

He believes in an open doctor-patient relationship, being sure to include the patient and educating them so that they understand their condition better and they can be directly involved in their care and management at every stage. Aside from his clinical work, he is actively involved in research, which together with his experience, has given him the opportunity to publish the first stand-alone textbook on postpartum haemorrhage which was launched by HRH Princess Anne.

At the core of Mr Karoshi's practice is a high standard of professionalism where patients are involved in their treatment and where the latest techniques and advancements are used to provide an extremely high level of care.

View Profile

Overall assessment of their patients

  • Related procedures
  • Platelet-rich plasma
    Sexually transmitted infections (STIs)
    Cosmetic Consulting
    Breast reconstruction
    Congenital malformations
    Sexual dysfunction
    Erectile dysfunction
    This website uses our own and third-party Cookies to compile information with the aim of improving our services, to show you advertising related to your preferences as well analysing your browsing habits. You can change your settings HERE.