Balanced chromosome translocation (carrier)

Overview

Carriers usually have no health problems.

Options include testing during pregnancy or IVF with embryo testing.

Symptoms

Common signs:

• Repeated miscarriages

Less common

• Infertility

When to get medical care

Causes

Chromosome swap.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Karyotype:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Genetic counseling
• Talk with a genetic counselor

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Children, pregnancy, and older adults

• Couples with repeated miscarriages: Testing is advised.
• People with repeat miscarriages: Testing helps.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Many carriers have healthy children.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Balanced chromosome translocation (carrier)